Enfermedad de Parkinson espordica y familiar: estudio comparativo
Identifieur interne : 000097 ( Main/Corpus ); précédent : 000096; suivant : 000098Enfermedad de Parkinson espordica y familiar: estudio comparativo
Auteurs : Esteban Muoz ; Pau Pastor ; Mara Jos Mart ; Francesc Valldeoriola ; Eduardo Tolosa ; Rafael OlivaSource :
- Medicina Clinica [ 0025-7753 ] ; 2001.
English descriptors
Abstract
Diversos estudios han constatado que entre el 13 y el 33% de los pacientes conenfermedad de Parkinson (EP) presentan antecedentes familiares de la enfermedad. Los objetivos de este trabajo fueron identificar casos de EP familiar y analizar la existencia de rasgos distintivos entre los casos espordicos y familiaresPacientes y mtodoSe evalu prospectivamente a 402 pacientes con EP controlados en el Hospital Clnic i Universitari de Barcelona. Se realiz un examen clnico a 169 pacientes utilizando diversas escalas. La EP se subclasific como predominantemente tremorgena, rgida o mixta en funcin de los sntomas que predominabanResultadosLa frecuencia de EP familiar fue del 13%. La edad de inicio no fue diferente en los casos familiares y espordicos, pero fue significativamente mayor en las mujeres (57,4 [13] aos) que en los varones (54,8 [11,4] aos) (p < 0,05). La forma tremorgena de EP fue ms frecuente en los casos familiares (35,5%; p < 0,05). En los casos de EP familiar, la edad de inicio fue menor en los hijos (53 [13] aos) que en los padres (68 [7,8] aos) (p 0,001)ConclusionesLos factores genticos pueden desempear un papel importante en el desarrollo de la EP, y pueden existir factores ligados al sexo que modulen la edad de inicio de la enfermedad. Los casos familiares slo se diferencian de los espordicos en una mayor frecuencia de las formas predominantemente tremorgenas. La menor edad de inicio en los hijos que en los padres apunta a la existencia de un fenmeno de anticipacin gentica en la EP familiar
Url:
DOI: 10.1016/S0025-7753(01)71919-7
Links to Exploration step
ISTEX:EC4070FAFB9A74C3D3A087E336BD481FFF69FB66Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="es">Enfermedad de Parkinson espordica y familiar: estudio comparativo</title><author><name sortKey="Muoz, Esteban" sort="Muoz, Esteban" uniqKey="Muoz E" first="Esteban" last="Muoz">Esteban Muoz</name><affiliation><mods:affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: jemunoz@clinic.ub.es</mods:affiliation></affiliation></author><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><affiliation><mods:affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</mods:affiliation></affiliation></author><author><name sortKey="Mart, Mara Jos" sort="Mart, Mara Jos" uniqKey="Mart M" first="Mara Jos" last="Mart">Mara Jos Mart</name><affiliation><mods:affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</mods:affiliation></affiliation></author><author><name sortKey="Valldeoriola, Francesc" sort="Valldeoriola, Francesc" uniqKey="Valldeoriola F" first="Francesc" last="Valldeoriola">Francesc Valldeoriola</name><affiliation><mods:affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</mods:affiliation></affiliation></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><affiliation><mods:affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</mods:affiliation></affiliation></author><author><name sortKey="Oliva, Rafael" sort="Oliva, Rafael" uniqKey="Oliva R" first="Rafael" last="Oliva">Rafael Oliva</name><affiliation><mods:affiliation>Gentica. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:EC4070FAFB9A74C3D3A087E336BD481FFF69FB66</idno><date when="2001" year="2001">2001</date><idno type="doi">10.1016/S0025-7753(01)71919-7</idno><idno type="url">https://api.istex.fr/document/EC4070FAFB9A74C3D3A087E336BD481FFF69FB66/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">000097</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="es">Enfermedad de Parkinson espordica y familiar: estudio comparativo</title><author><name sortKey="Muoz, Esteban" sort="Muoz, Esteban" uniqKey="Muoz E" first="Esteban" last="Muoz">Esteban Muoz</name><affiliation><mods:affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: jemunoz@clinic.ub.es</mods:affiliation></affiliation></author><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><affiliation><mods:affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</mods:affiliation></affiliation></author><author><name sortKey="Mart, Mara Jos" sort="Mart, Mara Jos" uniqKey="Mart M" first="Mara Jos" last="Mart">Mara Jos Mart</name><affiliation><mods:affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</mods:affiliation></affiliation></author><author><name sortKey="Valldeoriola, Francesc" sort="Valldeoriola, Francesc" uniqKey="Valldeoriola F" first="Francesc" last="Valldeoriola">Francesc Valldeoriola</name><affiliation><mods:affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</mods:affiliation></affiliation></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><affiliation><mods:affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</mods:affiliation></affiliation></author><author><name sortKey="Oliva, Rafael" sort="Oliva, Rafael" uniqKey="Oliva R" first="Rafael" last="Oliva">Rafael Oliva</name><affiliation><mods:affiliation>Gentica. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Medicina Clinica</title><title level="j" type="abbrev">MEDCLI</title><idno type="ISSN">0025-7753</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="2001">2001</date><biblScope unit="volume">116</biblScope><biblScope unit="issue">16</biblScope><biblScope unit="page" from="601">601</biblScope><biblScope unit="page" to="604">604</biblScope></imprint><idno type="ISSN">0025-7753</idno></series><idno type="istex">EC4070FAFB9A74C3D3A087E336BD481FFF69FB66</idno><idno type="DOI">10.1016/S0025-7753(01)71919-7</idno><idno type="PII">S0025-7753(01)71919-7</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0025-7753</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Familial Parkinsons disease</term><term>Genetic anticipation</term><term>Pattern of inheritance</term></keywords></textClass><langUsage><language ident="es">es</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="es">Diversos estudios han constatado que entre el 13 y el 33% de los pacientes conenfermedad de Parkinson (EP) presentan antecedentes familiares de la enfermedad. Los objetivos de este trabajo fueron identificar casos de EP familiar y analizar la existencia de rasgos distintivos entre los casos espordicos y familiaresPacientes y mtodoSe evalu prospectivamente a 402 pacientes con EP controlados en el Hospital Clnic i Universitari de Barcelona. Se realiz un examen clnico a 169 pacientes utilizando diversas escalas. La EP se subclasific como predominantemente tremorgena, rgida o mixta en funcin de los sntomas que predominabanResultadosLa frecuencia de EP familiar fue del 13%. La edad de inicio no fue diferente en los casos familiares y espordicos, pero fue significativamente mayor en las mujeres (57,4 [13] aos) que en los varones (54,8 [11,4] aos) (p < 0,05). La forma tremorgena de EP fue ms frecuente en los casos familiares (35,5%; p < 0,05). En los casos de EP familiar, la edad de inicio fue menor en los hijos (53 [13] aos) que en los padres (68 [7,8] aos) (p 0,001)ConclusionesLos factores genticos pueden desempear un papel importante en el desarrollo de la EP, y pueden existir factores ligados al sexo que modulen la edad de inicio de la enfermedad. Los casos familiares slo se diferencian de los espordicos en una mayor frecuencia de las formas predominantemente tremorgenas. La menor edad de inicio en los hijos que en los padres apunta a la existencia de un fenmeno de anticipacin gentica en la EP familiar</div></front></TEI><istex><corpusName>elsevier</corpusName><author><json:item><name>Esteban Muoz</name><affiliations><json:string>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</json:string><json:string>E-mail: jemunoz@clinic.ub.es</json:string></affiliations></json:item><json:item><name>Pau Pastor</name><affiliations><json:string>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</json:string></affiliations></json:item><json:item><name>Mara Jos Mart</name><affiliations><json:string>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</json:string></affiliations></json:item><json:item><name>Francesc Valldeoriola</name><affiliations><json:string>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</json:string></affiliations></json:item><json:item><name>Eduardo Tolosa</name><affiliations><json:string>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</json:string></affiliations></json:item><json:item><name>Rafael Oliva</name><affiliations><json:string>Gentica. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>spa</json:string></lang><value>Enfermedad de Parkinson familiar</value></json:item><json:item><lang><json:string>spa</json:string></lang><value>Patrn de herencia</value></json:item><json:item><lang><json:string>spa</json:string></lang><value>Anticipacin gentica</value></json:item><json:item><lang><json:string>spa</json:string></lang><value>Familial Parkinsons disease</value></json:item><json:item><lang><json:string>spa</json:string></lang><value>Pattern of inheritance</value></json:item><json:item><lang><json:string>spa</json:string></lang><value>Genetic anticipation</value></json:item></subject><language><json:string>spa</json:string></language><qualityIndicators><score>8.456</score><pdfVersion>1.7</pdfVersion><pdfPageSize>595 x 842 pts (A4)</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>6</keywordCount><abstractCharCount>1524</abstractCharCount><pdfWordCount>3456</pdfWordCount><pdfCharCount>20527</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>250</abstractWordCount></qualityIndicators><title>Enfermedad de Parkinson espordica y familiar: estudio comparativo</title><pii><json:string>S0025-7753(01)71919-7</json:string></pii><genre><json:string>research-article</json:string></genre><host><volume>116</volume><pii><json:string>S0025-7753(01)X7176-5</json:string></pii><pages><last>604</last><first>601</first></pages><issn><json:string>0025-7753</json:string></issn><issue>16</issue><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><title>Medicina Clinica</title><publicationDate>2001</publicationDate></host><categories><wos><json:string>MEDICINE, GENERAL & INTERNAL</json:string></wos></categories><publicationDate>2001</publicationDate><copyrightDate>2001</copyrightDate><doi><json:string>10.1016/S0025-7753(01)71919-7</json:string></doi><id>EC4070FAFB9A74C3D3A087E336BD481FFF69FB66</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/EC4070FAFB9A74C3D3A087E336BD481FFF69FB66/fulltext/pdf</uri></json:item><json:item><original>true</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/EC4070FAFB9A74C3D3A087E336BD481FFF69FB66/fulltext/txt</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/EC4070FAFB9A74C3D3A087E336BD481FFF69FB66/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/EC4070FAFB9A74C3D3A087E336BD481FFF69FB66/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="es">Enfermedad de Parkinson espordica y familiar: estudio comparativo</title><title level="a" type="alt" xml:lang="en">Sporadic and familial Parkinson's disease: comparative study</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>ELSEVIER</publisher><availability><p>ELSEVIER</p></availability><date>2001</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="es">Enfermedad de Parkinson espordica y familiar: estudio comparativo</title><title level="a" type="alt" xml:lang="en">Sporadic and familial Parkinson's disease: comparative study</title><author><persName><forename type="first">Esteban</forename><surname>Muoz</surname></persName><email>jemunoz@clinic.ub.es</email><affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</affiliation></author><author><persName><forename type="first">Pau</forename><surname>Pastor</surname></persName><affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</affiliation></author><author><persName><forename type="first">Mara Jos</forename><surname>Mart</surname></persName><affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</affiliation></author><author><persName><forename type="first">Francesc</forename><surname>Valldeoriola</surname></persName><affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</affiliation></author><author><persName><forename type="first">Eduardo</forename><surname>Tolosa</surname></persName><affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</affiliation></author><author><persName><forename type="first">Rafael</forename><surname>Oliva</surname></persName><affiliation>Gentica. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</affiliation></author></analytic><monogr><title level="j">Medicina Clinica</title><title level="j" type="abbrev">MEDCLI</title><idno type="pISSN">0025-7753</idno><idno type="PII">S0025-7753(01)X7176-5</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="2001"></date><biblScope unit="volume">116</biblScope><biblScope unit="issue">16</biblScope><biblScope unit="page" from="601">601</biblScope><biblScope unit="page" to="604">604</biblScope></imprint></monogr><idno type="istex">EC4070FAFB9A74C3D3A087E336BD481FFF69FB66</idno><idno type="DOI">10.1016/S0025-7753(01)71919-7</idno><idno type="PII">S0025-7753(01)71919-7</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2001</date></creation><langUsage><language ident="es">es</language></langUsage><abstract xml:lang="es"><p>Diversos estudios han constatado que entre el 13 y el 33% de los pacientes conenfermedad de Parkinson (EP) presentan antecedentes familiares de la enfermedad. Los objetivos de este trabajo fueron identificar casos de EP familiar y analizar la existencia de rasgos distintivos entre los casos espordicos y familiaresPacientes y mtodoSe evalu prospectivamente a 402 pacientes con EP controlados en el Hospital Clnic i Universitari de Barcelona. Se realiz un examen clnico a 169 pacientes utilizando diversas escalas. La EP se subclasific como predominantemente tremorgena, rgida o mixta en funcin de los sntomas que predominabanResultadosLa frecuencia de EP familiar fue del 13%. La edad de inicio no fue diferente en los casos familiares y espordicos, pero fue significativamente mayor en las mujeres (57,4 [13] aos) que en los varones (54,8 [11,4] aos) (p < 0,05). La forma tremorgena de EP fue ms frecuente en los casos familiares (35,5%; p < 0,05). En los casos de EP familiar, la edad de inicio fue menor en los hijos (53 [13] aos) que en los padres (68 [7,8] aos) (p 0,001)ConclusionesLos factores genticos pueden desempear un papel importante en el desarrollo de la EP, y pueden existir factores ligados al sexo que modulen la edad de inicio de la enfermedad. Los casos familiares slo se diferencian de los espordicos en una mayor frecuencia de las formas predominantemente tremorgenas. La menor edad de inicio en los hijos que en los padres apunta a la existencia de un fenmeno de anticipacin gentica en la EP familiar</p></abstract><abstract xml:lang="en"><p>Several studies have shown that 13 to 33% of patients with Parkinsons disease (PD) exhibit a positive familial history. The goals of this work were to identify patients with familial PD and to analyse whether there existed distinctive features between familial and sporadic casesPatients and method402 patients with PD from the Hospital Clnic i Universitari of Barcelona were evaluated prospectively. Clinical assessment was done using different scales in 169 patients. The disease was classified as tremorigenic, rigid or mixed according to the predominant symptomsResultsThe frequency of familial PD was 13%. The age at onset was not different between familial and sporadic cases but it was significantly higher in females (57.4 [13] years) than in males (54.8 [11.4] years) (p < 0.05). The tremorigenic type of PD was more common in familial cases (35.5%) (p < 0.05). In familial PD cases, the age at onset was lower in descendents (53 [13] years) than in parents (68 [7.8] years) (p 0.001)ConclusionsGenetic factors may play an important role in the development of PD and gender-associated factors may modulate the age at onset. Familial PD cases differ from sporadic cases in the higher frequency of predominantly tremorigenic forms. The lower age at onset in descendents than in parents suggests the existence of a genetic anticipation phenomenon in familial PD</p></abstract><textClass xml:lang="es"><keywords scheme="keyword"><list><head>Palabras clave</head><item><term>Enfermedad de Parkinson familiar</term></item><item><term>Patrn de herencia</term></item><item><term>Anticipacin gentica</term></item></list></keywords></textClass><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Key words</head><item><term>Familial Parkinsons disease</term></item><item><term>Pattern of inheritance</term></item><item><term>Genetic anticipation</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2001-01-18">Registration</change><change when="2001">Published</change></revisionDesc></teiHeader></istex:fulltextTEI></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier doc found" wicri:toSee="Elsevier, no converted or simple article"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 5.1.0//EN//XML" URI="art510.dtd" name="istex:docType"></istex:docType><istex:document><article version="5.1" xml:lang="es" docsubtype="fla"><item-info><jid>MEDCLI</jid><aid>71919</aid><ce:pii>S0025-7753(01)71919-7</ce:pii><ce:doi>10.1016/S0025-7753(01)71919-7</ce:doi><ce:copyright type="full-transfer" year="2001">Elsevier España, S.L.</ce:copyright></item-info><head><ce:title>Enfermedad de Parkinson esporádica y familiar: estudio comparativo</ce:title><ce:alt-title xml:lang="en">Sporadic and familial Parkinson's disease: comparative study</ce:alt-title><ce:author-group><ce:author><ce:given-name>Esteban</ce:given-name><ce:surname>Muñoz</ce:surname><ce:cross-ref refid="cor0005"><ce:sup>*</ce:sup></ce:cross-ref><ce:e-address type="email">jemunoz@clinic.ub.es</ce:e-address></ce:author><ce:author><ce:given-name>Pau</ce:given-name><ce:surname>Pastor</ce:surname></ce:author><ce:author><ce:given-name>María José</ce:given-name><ce:surname>Martí</ce:surname></ce:author><ce:author><ce:given-name>Francesc</ce:given-name><ce:surname>Valldeoriola</ce:surname></ce:author><ce:author><ce:given-name>Eduardo</ce:given-name><ce:surname>Tolosa</ce:surname></ce:author><ce:affiliation><ce:textfn>Unidad de Movimientos Anormales. Servicios de Neurología. Hospital Clínic i Universitari de Barcelona. Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS). Barcelona.</ce:textfn></ce:affiliation><ce:correspondence id="cor0005"><ce:label>*</ce:label><ce:text>Correspondencia: Dr. E. Muñoz.Servicio de Neurología. Hospital Clínic i Universitari de Barcelona.Villarroel, 170. 08036 Barcelona.</ce:text></ce:correspondence></ce:author-group><ce:author-group><ce:author><ce:given-name>Rafael</ce:given-name><ce:surname>Oliva</ce:surname><ce:cross-ref refid="aff0005"><ce:sup>a</ce:sup></ce:cross-ref></ce:author><ce:affiliation id="aff0005"><ce:label>a</ce:label><ce:textfn>Genética. Hospital Clínic i Universitari de Barcelona. Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS). Barcelona.</ce:textfn></ce:affiliation></ce:author-group><ce:date-received day="20" month="9" year="2000"></ce:date-received><ce:date-accepted day="18" month="1" year="2001"></ce:date-accepted><ce:abstract xml:lang="es"><ce:section-title>Fundamento</ce:section-title><ce:abstract-sec><ce:simple-para id="spar0005">Diversos estudios han constatado que entre el 13 y el 33% de los pacientes conenfermedad de Parkinson (EP) presentan antecedentes familiares de la enfermedad. Los objetivos de este trabajo fueron identificar casos de EP familiar y analizar la existencia de rasgos distintivos entre los casos esporádicos y familiares</ce:simple-para></ce:abstract-sec><ce:abstract-sec><ce:section-title>Pacientes y método</ce:section-title><ce:simple-para id="spar0010">Se evaluó prospectivamente a 402 pacientes con EP controlados en el Hospital Clínic i Universitari de Barcelona. Se realizó un examen clínico a 169 pacientes utilizando diversas escalas. La EP se subclasificó como predominantemente tremorígena, rígida o mixta en función de los síntomas que predominaban</ce:simple-para></ce:abstract-sec><ce:abstract-sec><ce:section-title>Resultados</ce:section-title><ce:simple-para id="spar0015">La frecuencia de EP familiar fue del 13%. La edad de inicio no fue diferente en los casos familiares y esporádicos, pero fue significativamente mayor en las mujeres (57,4 [13] años) que en los varones (54,8 [11,4] años) (p < 0,05). La forma tremorígena de EP fue más frecuente en los casos familiares (35,5%; p < 0,05). En los casos de EP familiar, la edad de inicio fue menor en los hijos (53 [13] años) que en los padres (68 [7,8] años) (p = 0,001)</ce:simple-para></ce:abstract-sec><ce:abstract-sec><ce:section-title>Conclusiones</ce:section-title><ce:simple-para id="spar0020">Los factores genéticos pueden desempeñar un papel importante en el desarrollo de la EP, y pueden existir factores ligados al sexo que modulen la edad de inicio de la enfermedad. Los casos familiares sólo se diferencian de los esporádicos en una mayor frecuencia de las formas predominantemente tremorígenas. La menor edad de inicio en los hijos que en los padres apunta a la existencia de un fenómeno de anticipación genética en la EP familiar</ce:simple-para></ce:abstract-sec></ce:abstract><ce:abstract xml:lang="en"><ce:section-title>Background</ce:section-title><ce:abstract-sec><ce:simple-para id="spar0025">Several studies have shown that 13 to 33% of patients with Parkinson’s disease (PD) exhibit a positive familial history. The goals of this work were to identify patients with familial PD and to analyse whether there existed distinctive features between familial and sporadic cases</ce:simple-para></ce:abstract-sec><ce:abstract-sec><ce:section-title>Patients and method</ce:section-title><ce:simple-para id="spar0030">402 patients with PD from the Hospital Clínic i Universitari of Barcelona were evaluated prospectively. Clinical assessment was done using different scales in 169 patients. The disease was classified as tremorigenic, rigid or mixed according to the predominant symptoms</ce:simple-para></ce:abstract-sec><ce:abstract-sec><ce:section-title>Results</ce:section-title><ce:simple-para id="spar0035">The frequency of familial PD was 13%. The age at onset was not different between familial and sporadic cases but it was significantly higher in females (57.4 [13] years) than in males (54.8 [11.4] years) (p < 0.05). The tremorigenic type of PD was more common in familial cases (35.5%) (p < 0.05). In familial PD cases, the age at onset was lower in descendents (53 [13] years) than in parents (68 [7.8] years) (p = 0.001)</ce:simple-para></ce:abstract-sec><ce:abstract-sec><ce:section-title>Conclusions</ce:section-title><ce:simple-para id="spar0040">Genetic factors may play an important role in the development of PD and gender-associated factors may modulate the age at onset. Familial PD cases differ from sporadic cases in the higher frequency of predominantly tremorigenic forms. The lower age at onset in descendents than in parents suggests the existence of a genetic anticipation phenomenon in familial PD</ce:simple-para></ce:abstract-sec></ce:abstract><ce:keywords class="keyword" xml:lang="es"><ce:section-title>Palabras clave</ce:section-title><ce:keyword><ce:text>Enfermedad de Parkinson familiar</ce:text></ce:keyword><ce:keyword><ce:text>Patrón de herencia</ce:text></ce:keyword><ce:keyword><ce:text>Anticipación genética</ce:text></ce:keyword></ce:keywords><ce:keywords class="keyword" xml:lang="en"><ce:section-title>Key words</ce:section-title><ce:keyword><ce:text>Familial Parkinson’s disease</ce:text></ce:keyword><ce:keyword><ce:text>Pattern of inheritance</ce:text></ce:keyword><ce:keyword><ce:text>Genetic anticipation</ce:text></ce:keyword></ce:keywords></head><tail><ce:bibliography id="bibl0005"><ce:section-title>Referencias Bibliográficas</ce:section-title><ce:bibliography-sec id="bibs0005"><ce:bib-reference id="bib0005"><ce:label>1.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>M.C.</ce:given-name><ce:surname>De Rijk</ce:surname></sb:author><sb:author><ce:given-name>M.M.B.</ce:given-name><ce:surname>Breteler</ce:surname></sb:author><sb:author><ce:given-name>G.A.</ce:given-name><ce:surname>Graveland</ce:surname></sb:author><sb:author><ce:given-name>A.</ce:given-name><ce:surname>Ott</ce:surname></sb:author><sb:author><ce:given-name>D.E.</ce:given-name><ce:surname>Grobbee</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Van der Meché FGA et al. Prevalence of Parkinson’s disease in the elderly: the Rotterdam study</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Neurology</sb:maintitle></sb:title><sb:volume-nr>45</sb:volume-nr></sb:series><sb:date>1995</sb:date></sb:issue><sb:pages><sb:first-page>2143</sb:first-page><sb:last-page>2146</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0010"><ce:label>2.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>G.</ce:given-name><ce:surname>De Michele</ce:surname></sb:author><sb:author><ce:given-name>A.</ce:given-name><ce:surname>Filla</ce:surname></sb:author><sb:author><ce:given-name>G.</ce:given-name><ce:surname>Volpe</ce:surname></sb:author><sb:author><ce:given-name>V.</ce:given-name><ce:surname>De Marco</ce:surname></sb:author><sb:author><ce:given-name>A.</ce:given-name><ce:surname>Gogliettino</ce:surname></sb:author><sb:author><ce:given-name>G.</ce:given-name><ce:surname>Ambrosio</ce:surname></sb:author><sb:et-al></sb:et-al></sb:authors><sb:title><sb:maintitle>Environmental and genetic risk factors in Parkinson’s disease: a case-control study in southern Italy</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Mov Disord</sb:maintitle></sb:title><sb:volume-nr>11</sb:volume-nr></sb:series><sb:date>1996</sb:date></sb:issue><sb:pages><sb:first-page>17</sb:first-page><sb:last-page>23</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0015"><ce:label>3.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>H.</ce:given-name><ce:surname>Payami</ce:surname></sb:author><sb:author><ce:given-name>K.</ce:given-name><ce:surname>Larsen</ce:surname></sb:author><sb:author><ce:given-name>S.</ce:given-name><ce:surname>Bernard</ce:surname></sb:author><sb:author><ce:given-name>J.</ce:given-name><ce:surname>Nutt</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Increased risk of Parkinson’s disease in parents and siblings of patients</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Ann Neurol</sb:maintitle></sb:title><sb:volume-nr>36</sb:volume-nr></sb:series><sb:date>1994</sb:date></sb:issue><sb:pages><sb:first-page>659</sb:first-page><sb:last-page>661</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0020"><ce:label>4.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>K.</ce:given-name><ce:surname>Marder</ce:surname></sb:author><sb:author><ce:given-name>M.X.</ce:given-name><ce:surname>Tang</ce:surname></sb:author><sb:author><ce:given-name>H.</ce:given-name><ce:surname>Mejía</ce:surname></sb:author><sb:author><ce:given-name>B.</ce:given-name><ce:surname>Alfaro</ce:surname></sb:author><sb:author><ce:given-name>L.</ce:given-name><ce:surname>Coté</ce:surname></sb:author><sb:author><ce:given-name>E.</ce:given-name><ce:surname>Louis</ce:surname></sb:author><sb:et-al></sb:et-al></sb:authors><sb:title><sb:maintitle>Risk of Parkinson’s disease among first-degree relatives: a community-based study</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Neurology</sb:maintitle></sb:title><sb:volume-nr>47</sb:volume-nr></sb:series><sb:date>1996</sb:date></sb:issue><sb:pages><sb:first-page>155</sb:first-page><sb:last-page>160</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0025"><ce:label>5.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>C.H.</ce:given-name><ce:surname>Waters</ce:surname></sb:author><sb:author><ce:given-name>C.A.</ce:given-name><ce:surname>Miller</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Autosomal dominant Lewy body parkinsonism in a four-generation family</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Ann Neurol</sb:maintitle></sb:title><sb:volume-nr>35</sb:volume-nr></sb:series><sb:date>1994</sb:date></sb:issue><sb:pages><sb:first-page>59</sb:first-page><sb:last-page>64</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0030"><ce:label>6.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>T.</ce:given-name><ce:surname>Gasser</ce:surname></sb:author><sb:author><ce:given-name>Z.K.</ce:given-name><ce:surname>Wszolek</ce:surname></sb:author><sb:author><ce:given-name>J.</ce:given-name><ce:surname>Trofatter</ce:surname></sb:author><sb:author><ce:given-name>L.</ce:given-name><ce:surname>Ozelius</ce:surname></sb:author><sb:author><ce:given-name>R.J.</ce:given-name><ce:surname>Uitti</ce:surname></sb:author><sb:author><ce:given-name>C.S.</ce:given-name><ce:surname>Lee</ce:surname></sb:author><sb:et-al></sb:et-al></sb:authors><sb:title><sb:maintitle>Genetic linkage studies in autosomal dominant parkinsonism: evaluation on seven candidate genes</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Ann Neurol</sb:maintitle></sb:title><sb:volume-nr>36</sb:volume-nr></sb:series><sb:date>1994</sb:date></sb:issue><sb:pages><sb:first-page>387</sb:first-page><sb:last-page>396</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0035"><ce:label>7.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>M.H.</ce:given-name><ce:surname>Polymeropoulos</ce:surname></sb:author><sb:author><ce:given-name>C.</ce:given-name><ce:surname>Lavedan</ce:surname></sb:author><sb:author><ce:given-name>E.</ce:given-name><ce:surname>Leroy</ce:surname></sb:author><sb:author><ce:given-name>S.E.</ce:given-name><ce:surname>Ide</ce:surname></sb:author><sb:author><ce:given-name>A.</ce:given-name><ce:surname>Dehejia</ce:surname></sb:author><sb:author><ce:given-name>A.</ce:given-name><ce:surname>Dutra</ce:surname></sb:author><sb:et-al></sb:et-al></sb:authors><sb:title><sb:maintitle>Mutation in the a- synuclein gene identified in families with Parkinson’s disease</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Science</sb:maintitle></sb:title><sb:volume-nr>276</sb:volume-nr></sb:series><sb:date>1997</sb:date></sb:issue><sb:pages><sb:first-page>2045</sb:first-page><sb:last-page>2047</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0040"><ce:label>8.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>R.</ce:given-name><ce:surname>Krüger</ce:surname></sb:author><sb:author><ce:given-name>W.</ce:given-name><ce:surname>Kuhn</ce:surname></sb:author><sb:author><ce:given-name>T.</ce:given-name><ce:surname>Muller</ce:surname></sb:author><sb:author><ce:given-name>D.</ce:given-name><ce:surname>Woitalla</ce:surname></sb:author><sb:author><ce:given-name>M.</ce:given-name><ce:surname>Graeber</ce:surname></sb:author><sb:author><ce:given-name>S.</ce:given-name><ce:surname>Kösel</ce:surname></sb:author><sb:et-al></sb:et-al></sb:authors><sb:title><sb:maintitle>Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson’s disease</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Nat Genet</sb:maintitle></sb:title><sb:volume-nr>18</sb:volume-nr></sb:series><sb:date>1998</sb:date></sb:issue><sb:pages><sb:first-page>106</sb:first-page><sb:last-page>108</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0045"><ce:label>9.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>H.</ce:given-name><ce:surname>Matsumine</ce:surname></sb:author><sb:author><ce:given-name>M.</ce:given-name><ce:surname>Saito</ce:surname></sb:author><sb:author><ce:given-name>S.</ce:given-name><ce:surname>Shimoda-Matsubayashi</ce:surname></sb:author><sb:author><ce:given-name>H.</ce:given-name><ce:surname>Tanaka</ce:surname></sb:author><sb:author><ce:given-name>A.</ce:given-name><ce:surname>Ishikawa</ce:surname></sb:author><sb:author><ce:given-name>Y.</ce:given-name><ce:surname>Nakagawa-Hattori</ce:surname></sb:author><sb:et-al></sb:et-al></sb:authors><sb:title><sb:maintitle>Localization of a gene for an autosomal recessive form of juvenile parkinsonism of chromosome 6q25.2-27</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Am J Hum Genet</sb:maintitle></sb:title><sb:volume-nr>60</sb:volume-nr></sb:series><sb:date>1997</sb:date></sb:issue><sb:pages><sb:first-page>588</sb:first-page><sb:last-page>596</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0050"><ce:label>10.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>C.B.</ce:given-name><ce:surname>Lucking</ce:surname></sb:author><sb:author><ce:given-name>A.</ce:given-name><ce:surname>Durr</ce:surname></sb:author><sb:author><ce:given-name>V.</ce:given-name><ce:surname>Bonifati</ce:surname></sb:author><sb:author><ce:given-name>J.</ce:given-name><ce:surname>Vaughan</ce:surname></sb:author><sb:author><ce:given-name>G.</ce:given-name><ce:surname>De Michele</ce:surname></sb:author><sb:author><ce:given-name>T.</ce:given-name><ce:surname>Gasser</ce:surname></sb:author><sb:et-al></sb:et-al></sb:authors><sb:title><sb:maintitle>Association between early-onset Parkinson’s disease and mutations in the parkin gene. French Parkinson’s Disease Genetics Study Group</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>N Engl J Med</sb:maintitle></sb:title><sb:volume-nr>342</sb:volume-nr></sb:series><sb:date>2000</sb:date></sb:issue><sb:pages><sb:first-page>1560</sb:first-page><sb:last-page>1567</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0055"><ce:label>11.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>E.</ce:given-name><ce:surname>Muñoz</ce:surname></sb:author><sb:author><ce:given-name>P.</ce:given-name><ce:surname>Pastor</ce:surname></sb:author><sb:author><ce:given-name>M.J.</ce:given-name><ce:surname>Martí</ce:surname></sb:author><sb:author><ce:given-name>R.</ce:given-name><ce:surname>Oliva</ce:surname></sb:author><sb:author><ce:given-name>E.</ce:given-name><ce:surname>Tolosa</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Neurosci Lett</sb:maintitle></sb:title><sb:volume-nr>289</sb:volume-nr></sb:series><sb:date>2000</sb:date></sb:issue><sb:pages><sb:first-page>66</sb:first-page><sb:last-page>68</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0060"><ce:label>12.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>A.J.</ce:given-name><ce:surname>Hughes</ce:surname></sb:author><sb:author><ce:given-name>S.E.</ce:given-name><ce:surname>Daniel</ce:surname></sb:author><sb:author><ce:given-name>L.</ce:given-name><ce:surname>Kilford</ce:surname></sb:author><sb:author><ce:given-name>A.J.</ce:given-name><ce:surname>Lees</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Accuracy of clinical diagnosis of idiopathic Parkinson’s disease: a clinico-pathological study of 100 cases</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>J Neurol Neurosurg Psychiatry</sb:maintitle></sb:title><sb:volume-nr>55</sb:volume-nr></sb:series><sb:date>1992</sb:date></sb:issue><sb:pages><sb:first-page>181</sb:first-page><sb:last-page>184</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0065"><ce:label>13.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>K.</ce:given-name><ce:surname>Semchuk</ce:surname></sb:author><sb:author><ce:given-name>E.</ce:given-name><ce:surname>Love</ce:surname></sb:author><sb:author><ce:given-name>R.</ce:given-name><ce:surname>Lee</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Parkinson’s disease: a test of the multifactorial etiologic hypothesis</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Neurology</sb:maintitle></sb:title><sb:volume-nr>43</sb:volume-nr></sb:series><sb:date>1993</sb:date></sb:issue><sb:pages><sb:first-page>1173</sb:first-page><sb:last-page>1180</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0070"><ce:label>14.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>V.</ce:given-name><ce:surname>Bonifati</ce:surname></sb:author><sb:author><ce:given-name>E.</ce:given-name><ce:surname>Fabrizio</ce:surname></sb:author><sb:author><ce:given-name>N.</ce:given-name><ce:surname>Vanacore</ce:surname></sb:author><sb:author><ce:given-name>M.</ce:given-name><ce:surname>De Mari</ce:surname></sb:author><sb:author><ce:given-name>G.</ce:given-name><ce:surname>Meco</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Familial Parkinson’s disease: a clinical genetic analysis</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Can J Neurol Sci</sb:maintitle></sb:title><sb:volume-nr>22</sb:volume-nr></sb:series><sb:date>1995</sb:date></sb:issue><sb:pages><sb:first-page>272</sb:first-page><sb:last-page>279</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0075"><ce:label>15.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>E.</ce:given-name><ce:surname>Muñoz</ce:surname></sb:author><sb:author><ce:given-name>V.</ce:given-name><ce:surname>Obach</ce:surname></sb:author><sb:author><ce:given-name>R.</ce:given-name><ce:surname>Oliva</ce:surname></sb:author><sb:author><ce:given-name>M.J.</ce:given-name><ce:surname>Martí</ce:surname></sb:author><sb:author><ce:given-name>M.</ce:given-name><ce:surname>Ezquerra</ce:surname></sb:author><sb:author><ce:given-name>P.</ce:given-name><ce:surname>Pastor</ce:surname></sb:author><sb:et-al></sb:et-al></sb:authors><sb:title><sb:maintitle>a1-antichymotrypsin gene polymorphism and susceptibility to Parkinson’s disease</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Neurology</sb:maintitle></sb:title><sb:volume-nr>52</sb:volume-nr></sb:series><sb:date>1999</sb:date></sb:issue><sb:pages><sb:first-page>297</sb:first-page><sb:last-page>301</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0080"><ce:label>16.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>E.</ce:given-name><ce:surname>Muñoz</ce:surname></sb:author><sb:author><ce:given-name>R.</ce:given-name><ce:surname>Oliva</ce:surname></sb:author><sb:author><ce:given-name>V.</ce:given-name><ce:surname>Obach</ce:surname></sb:author><sb:author><ce:given-name>M.J.</ce:given-name><ce:surname>Martí</ce:surname></sb:author><sb:author><ce:given-name>P.</ce:given-name><ce:surname>Pastor</ce:surname></sb:author><sb:author><ce:given-name>F.</ce:given-name><ce:surname>Ballesta</ce:surname></sb:author><sb:et-al></sb:et-al></sb:authors><sb:title><sb:maintitle>Identification of Spanish familial Parkinson’s disease and screening for the Ala53Thr mutation of the a-synuclein gene in early onset patients</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Neurosci Lett</sb:maintitle></sb:title><sb:volume-nr>235</sb:volume-nr></sb:series><sb:date>1997</sb:date></sb:issue><sb:pages><sb:first-page>57</sb:first-page><sb:last-page>60</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0085"><ce:label>17.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>J.R.</ce:given-name><ce:surname>Vaughan</ce:surname></sb:author><sb:author><ce:given-name>M.J.</ce:given-name><ce:surname>Farrer</ce:surname></sb:author><sb:author><ce:given-name>Z.K.</ce:given-name><ce:surname>Wszolek</ce:surname></sb:author><sb:author><ce:given-name>T.</ce:given-name><ce:surname>Gasser</ce:surname></sb:author><sb:author><ce:given-name>A.</ce:given-name><ce:surname>Durr</ce:surname></sb:author><sb:author><ce:given-name>Y.</ce:given-name><ce:surname>Agid</ce:surname></sb:author><sb:et-al></sb:et-al></sb:authors><sb:title><sb:maintitle>Sequencing of the a-synuclein gene in a large series of cases of familial Parkinson’s disease fails to reveal any further mutations</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Hum Mol Genet</sb:maintitle></sb:title><sb:volume-nr>7</sb:volume-nr></sb:series><sb:date>1998</sb:date></sb:issue><sb:pages><sb:first-page>751</sb:first-page><sb:last-page>753</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0090"><ce:label>18.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>S.G.</ce:given-name><ce:surname>Diamond</ce:surname></sb:author><sb:author><ce:given-name>C.H.</ce:given-name><ce:surname>Markham</ce:surname></sb:author><sb:author><ce:given-name>M.M.</ce:given-name><ce:surname>Hoenh</ce:surname></sb:author><sb:author><ce:given-name>F.H.</ce:given-name><ce:surname>McDowell</ce:surname></sb:author><sb:author><ce:given-name>M.D.</ce:given-name><ce:surname>Muenter</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>An examination of malefemale differences in progression and mortality of Parkinson’s disease</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Neurology</sb:maintitle></sb:title><sb:volume-nr>40</sb:volume-nr></sb:series><sb:date>1990</sb:date></sb:issue><sb:pages><sb:first-page>763</sb:first-page><sb:last-page>766</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0095"><ce:label>19.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>K.E.</ce:given-name><ce:surname>Lyons</ce:surname></sb:author><sb:author><ce:given-name>J.P.</ce:given-name><ce:surname>Hubble</ce:surname></sb:author><sb:author><ce:given-name>A.I.</ce:given-name><ce:surname>Tröster</ce:surname></sb:author><sb:author><ce:given-name>R.</ce:given-name><ce:surname>Pahwa</ce:surname></sb:author><sb:author><ce:given-name>W.C.</ce:given-name><ce:surname>Koller</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Gender differences in Parkinson’s disease</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Clin Neuropharmacol</sb:maintitle></sb:title><sb:volume-nr>21</sb:volume-nr></sb:series><sb:date>1998</sb:date></sb:issue><sb:pages><sb:first-page>118</sb:first-page><sb:last-page>121</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0100"><ce:label>20.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>K.A.</ce:given-name><ce:surname>Disshon</ce:surname></sb:author><sb:author><ce:given-name>D.E.</ce:given-name><ce:surname>Dluzen</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Estrogen as a neuromodulador of MPTP-induced neurotoxicity: effects upon striatal dopamine release</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Brain Res</sb:maintitle></sb:title><sb:volume-nr>764</sb:volume-nr></sb:series><sb:date>1997</sb:date></sb:issue><sb:pages><sb:first-page>9</sb:first-page><sb:last-page>16</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0105"><ce:label>21.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>D.B.</ce:given-name><ce:surname>Miller</ce:surname></sb:author><sb:author><ce:given-name>S.F.</ce:given-name><ce:surname>Ali</ce:surname></sb:author><sb:author><ce:given-name>J.P.</ce:given-name><ce:surname>O’Callaghan</ce:surname></sb:author><sb:author><ce:given-name>S.C.</ce:given-name><ce:surname>Laws</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>The impact of gender and estrogen on striatal dopaminergic neurotoxicity</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Ann NY Acad Sci</sb:maintitle></sb:title><sb:volume-nr>844</sb:volume-nr></sb:series><sb:date>1988</sb:date></sb:issue><sb:pages><sb:first-page>153</sb:first-page><sb:last-page>165</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0110"><ce:label>22.</ce:label><sb:reference><sb:contribution><sb:title><sb:maintitle>DATATOP. A multicenter controlled clinical trial in early Parkinson’s disease. Parkinson Study Group</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Arch Neurol</sb:maintitle></sb:title><sb:volume-nr>46</sb:volume-nr></sb:series><sb:date>1989</sb:date></sb:issue><sb:pages><sb:first-page>1052</sb:first-page><sb:last-page>1060</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0115"><ce:label>23.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>M.</ce:given-name><ce:surname>Roy</ce:surname></sb:author><sb:author><ce:given-name>L.</ce:given-name><ce:surname>Boyer</ce:surname></sb:author><sb:author><ce:given-name>A.</ce:given-name><ce:surname>Barbeau</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>A prospective study of 50 cases of familial Parkinson’s disease</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Can J Neurol Sci</sb:maintitle></sb:title><sb:volume-nr>10</sb:volume-nr></sb:series><sb:date>1983</sb:date></sb:issue><sb:pages><sb:first-page>37</sb:first-page><sb:last-page>42</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0120"><ce:label>24.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>D.M.</ce:given-name><ce:surname>Maraganore</ce:surname></sb:author><sb:author><ce:given-name>A.E.</ce:given-name><ce:surname>Harding</ce:surname></sb:author><sb:author><ce:given-name>C.D.</ce:given-name><ce:surname>Marsden</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>A clinical and genetic study of familial Parkinson’s disease</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Mov Disord</sb:maintitle></sb:title><sb:volume-nr>6</sb:volume-nr></sb:series><sb:date>1991</sb:date></sb:issue><sb:pages><sb:first-page>205</sb:first-page><sb:last-page>211</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0125"><ce:label>25.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>V.</ce:given-name><ce:surname>Planté Bordeneuve</ce:surname></sb:author><sb:author><ce:given-name>D.</ce:given-name><ce:surname>Taussig</ce:surname></sb:author><sb:author><ce:given-name>F.</ce:given-name><ce:surname>Thomas</ce:surname></sb:author><sb:author><ce:given-name>M.</ce:given-name><ce:surname>Ziegler</ce:surname></sb:author><sb:author><ce:given-name>G.</ce:given-name><ce:surname>Said</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>A clinical and genetic study of familial cases of Parkinson’s disease</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>J Neurol Sci</sb:maintitle></sb:title><sb:volume-nr>133</sb:volume-nr></sb:series><sb:date>1995</sb:date></sb:issue><sb:pages><sb:first-page>164</sb:first-page><sb:last-page>172</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0130"><ce:label>26.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>D.M.</ce:given-name><ce:surname>Maraganore</ce:surname></sb:author><sb:author><ce:given-name>D.J.</ce:given-name><ce:surname>Schaid</ce:surname></sb:author><sb:author><ce:given-name>W.A.</ce:given-name><ce:surname>Rocca</ce:surname></sb:author><sb:author><ce:given-name>A.E.</ce:given-name><ce:surname>Harding</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Anticipation in familial Parkinson’s disease: a reanalysis of 13 United Kingdom kindreds</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Neurology</sb:maintitle></sb:title><sb:volume-nr>17</sb:volume-nr></sb:series><sb:date>1996</sb:date></sb:issue><sb:pages><sb:first-page>1512</sb:first-page><sb:last-page>1517</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0135"><ce:label>27.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>F.</ce:given-name><ce:surname>Cardellach</ce:surname></sb:author><sb:author><ce:given-name>M.J.</ce:given-name><ce:surname>Martí</ce:surname></sb:author><sb:author><ce:given-name>J.</ce:given-name><ce:surname>Fernández-Sola</ce:surname></sb:author><sb:author><ce:given-name>C.</ce:given-name><ce:surname>Marín</ce:surname></sb:author><sb:author><ce:given-name>J.B.</ce:given-name><ce:surname>Hoek</ce:surname></sb:author><sb:author><ce:given-name>E.</ce:given-name><ce:surname>Tolosa</ce:surname></sb:author><sb:et-al></sb:et-al></sb:authors><sb:title><sb:maintitle>Mitochondrial respiratory chain activity in skeletal muscle from patients with Parkinson’s disease</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Neurology</sb:maintitle></sb:title><sb:volume-nr>43</sb:volume-nr></sb:series><sb:date>1993</sb:date></sb:issue><sb:pages><sb:first-page>2258</sb:first-page><sb:last-page>2262</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0140"><ce:label>28.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>G.F.</ce:given-name><ce:surname>Wooten</ce:surname></sb:author><sb:author><ce:given-name>L.J.</ce:given-name><ce:surname>Currie</ce:surname></sb:author><sb:author><ce:given-name>J.P.</ce:given-name><ce:surname>Bennett</ce:surname></sb:author><sb:author><ce:given-name>M.B.</ce:given-name><ce:surname>Harrison</ce:surname></sb:author><sb:author><ce:given-name>J.M.</ce:given-name><ce:surname>Trugman</ce:surname></sb:author><sb:author><ce:given-name>W.D.</ce:given-name><ce:surname>Parker</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Maternal inheritance in Parkinson’s disease</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Ann Neurol</sb:maintitle></sb:title><sb:volume-nr>41</sb:volume-nr></sb:series><sb:date>1997</sb:date></sb:issue><sb:pages><sb:first-page>265</sb:first-page><sb:last-page>268</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0145"><ce:label>29.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>R.M.</ce:given-name><ce:surname>Zweig</ce:surname></sb:author><sb:author><ce:given-name>A.</ce:given-name><ce:surname>Singh</ce:surname></sb:author><sb:author><ce:given-name>J.E.</ce:given-name><ce:surname>Cardillo</ce:surname></sb:author><sb:author><ce:given-name>J.W.</ce:given-name><ce:surname>Langston</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>The familial occurrence of Parkinson’s disease. Lack of evidence for maternal inheritance</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Arch Neurol</sb:maintitle></sb:title><sb:volume-nr>49</sb:volume-nr></sb:series><sb:date>1992</sb:date></sb:issue><sb:pages><sb:first-page>1205</sb:first-page><sb:last-page>1207</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0150"><ce:label>30.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>S.</ce:given-name><ce:surname>Przedborski</ce:surname></sb:author><sb:author><ce:given-name>V.</ce:given-name><ce:surname>Jackson-Lewis</ce:surname></sb:author><sb:author><ce:given-name>U.</ce:given-name><ce:surname>Muthane</ce:surname></sb:author><sb:author><ce:given-name>H.</ce:given-name><ce:surname>Jiang</ce:surname></sb:author><sb:author><ce:given-name>M.</ce:given-name><ce:surname>ferreira</ce:surname></sb:author><sb:author><ce:given-name>A.B.</ce:given-name><ce:surname>Naini</ce:surname></sb:author><sb:et-al></sb:et-al></sb:authors><sb:title><sb:maintitle>Chronic levodopa administration alters cerebral mitochondrial respiratory chain activity</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Ann Neurol</sb:maintitle></sb:title><sb:volume-nr>34</sb:volume-nr></sb:series><sb:date>1993</sb:date></sb:issue><sb:pages><sb:first-page>715</sb:first-page><sb:last-page>723</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0155"><ce:label>31.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>T.P.</ce:given-name><ce:surname>Singer</ce:surname></sb:author><sb:author><ce:given-name>N.</ce:given-name><ce:surname>Castagnoli</ce:surname><ce:suffix>Jr.</ce:suffix></sb:author><sb:author><ce:given-name>R.R.</ce:given-name><ce:surname>Ramsay</ce:surname></sb:author><sb:author><ce:given-name>A.J.</ce:given-name><ce:surname>Trevor</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Biochemical events in the development of parkinsonism induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>J Neurochem</sb:maintitle></sb:title><sb:volume-nr>49</sb:volume-nr></sb:series><sb:date>1987</sb:date></sb:issue><sb:pages><sb:first-page>1</sb:first-page><sb:last-page>8</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference><ce:bib-reference id="bib0160"><ce:label>32.</ce:label><sb:reference><sb:contribution><sb:authors><sb:author><ce:given-name>A.</ce:given-name><ce:surname>López de Munain</ce:surname></sb:author></sb:authors><sb:title><sb:maintitle>Clasificación de las enfermedades mitocondriales</sb:maintitle></sb:title></sb:contribution><sb:host><sb:issue><sb:series><sb:title><sb:maintitle>Rev Neurol</sb:maintitle></sb:title><sb:volume-nr>26</sb:volume-nr></sb:series><sb:issue-nr>Supl 1</sb:issue-nr><sb:date>1998</sb:date></sb:issue><sb:pages><sb:first-page>9</sb:first-page><sb:last-page>14</sb:last-page></sb:pages></sb:host></sb:reference></ce:bib-reference></ce:bibliography-sec></ce:bibliography></tail></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="es"><title>Enfermedad de Parkinson espordica y familiar: estudio comparativo</title></titleInfo><titleInfo type="alternative" lang="es" contentType="CDATA"><title>Enfermedad de Parkinson espor</title></titleInfo><titleInfo type="translated" lang="en"><title>Sporadic and familial Parkinson's disease: comparative study</title></titleInfo><name type="personal"><namePart type="given">Esteban</namePart><namePart type="family">Muoz</namePart><affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</affiliation><affiliation>E-mail: jemunoz@clinic.ub.es</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pau</namePart><namePart type="family">Pastor</namePart><affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mara Jos</namePart><namePart type="family">Mart</namePart><affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Francesc</namePart><namePart type="family">Valldeoriola</namePart><affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Eduardo</namePart><namePart type="family">Tolosa</namePart><affiliation>Unidad de Movimientos Anormales. Servicios de Neurologa. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rafael</namePart><namePart type="family">Oliva</namePart><affiliation>Gentica. Hospital Clnic i Universitari de Barcelona. Institut dInvestigacions Biomdiques August Pi i Sunyer (IDIBAPS). Barcelona.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article"></genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">2001</dateIssued><dateValid encoding="w3cdtf">2001-01-18</dateValid><copyrightDate encoding="w3cdtf">2001</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">spa</languageTerm><languageTerm type="code" authority="rfc3066">es</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="es">Diversos estudios han constatado que entre el 13 y el 33% de los pacientes conenfermedad de Parkinson (EP) presentan antecedentes familiares de la enfermedad. Los objetivos de este trabajo fueron identificar casos de EP familiar y analizar la existencia de rasgos distintivos entre los casos espordicos y familiaresPacientes y mtodoSe evalu prospectivamente a 402 pacientes con EP controlados en el Hospital Clnic i Universitari de Barcelona. Se realiz un examen clnico a 169 pacientes utilizando diversas escalas. La EP se subclasific como predominantemente tremorgena, rgida o mixta en funcin de los sntomas que predominabanResultadosLa frecuencia de EP familiar fue del 13%. La edad de inicio no fue diferente en los casos familiares y espordicos, pero fue significativamente mayor en las mujeres (57,4 [13] aos) que en los varones (54,8 [11,4] aos) (p < 0,05). La forma tremorgena de EP fue ms frecuente en los casos familiares (35,5%; p < 0,05). En los casos de EP familiar, la edad de inicio fue menor en los hijos (53 [13] aos) que en los padres (68 [7,8] aos) (p 0,001)ConclusionesLos factores genticos pueden desempear un papel importante en el desarrollo de la EP, y pueden existir factores ligados al sexo que modulen la edad de inicio de la enfermedad. Los casos familiares slo se diferencian de los espordicos en una mayor frecuencia de las formas predominantemente tremorgenas. La menor edad de inicio en los hijos que en los padres apunta a la existencia de un fenmeno de anticipacin gentica en la EP familiar</abstract><abstract lang="en">Several studies have shown that 13 to 33% of patients with Parkinsons disease (PD) exhibit a positive familial history. The goals of this work were to identify patients with familial PD and to analyse whether there existed distinctive features between familial and sporadic casesPatients and method402 patients with PD from the Hospital Clnic i Universitari of Barcelona were evaluated prospectively. Clinical assessment was done using different scales in 169 patients. The disease was classified as tremorigenic, rigid or mixed according to the predominant symptomsResultsThe frequency of familial PD was 13%. The age at onset was not different between familial and sporadic cases but it was significantly higher in females (57.4 [13] years) than in males (54.8 [11.4] years) (p < 0.05). The tremorigenic type of PD was more common in familial cases (35.5%) (p < 0.05). In familial PD cases, the age at onset was lower in descendents (53 [13] years) than in parents (68 [7.8] years) (p 0.001)ConclusionsGenetic factors may play an important role in the development of PD and gender-associated factors may modulate the age at onset. Familial PD cases differ from sporadic cases in the higher frequency of predominantly tremorigenic forms. The lower age at onset in descendents than in parents suggests the existence of a genetic anticipation phenomenon in familial PD</abstract><subject lang="es"><genre>Palabras clave</genre><topic>Enfermedad de Parkinson familiar</topic><topic>Patrn de herencia</topic><topic>Anticipacin gentica</topic></subject><subject lang="en"><genre>Key words</genre><topic>Familial Parkinsons disease</topic><topic>Pattern of inheritance</topic><topic>Genetic anticipation</topic></subject><relatedItem type="host"><titleInfo><title>Medicina Clinica</title></titleInfo><titleInfo type="abbreviated"><title>MEDCLI</title></titleInfo><genre type="Journal">journal</genre><originInfo><dateIssued encoding="w3cdtf">2001</dateIssued></originInfo><identifier type="ISSN">0025-7753</identifier><identifier type="PII">S0025-7753(01)X7176-5</identifier><part><date>2001</date><detail type="volume"><number>116</number><caption>vol.</caption></detail><detail type="issue"><number>16</number><caption>no.</caption></detail><extent unit="issue pages"><start>601</start><end>640</end></extent><extent unit="pages"><start>601</start><end>604</end></extent></part></relatedItem><identifier type="istex">EC4070FAFB9A74C3D3A087E336BD481FFF69FB66</identifier><identifier type="DOI">10.1016/S0025-7753(01)71919-7</identifier><identifier type="PII">S0025-7753(01)71919-7</identifier><accessCondition type="use and reproduction" contentType="">© 2001Elsevier Espaa, S.L.</accessCondition><recordInfo><recordContentSource>ELSEVIER</recordContentSource><recordOrigin>Elsevier Espaa, S.L., ©2001</recordOrigin></recordInfo></mods></metadata><enrichments><istex:catWosTEI uri="https://api.istex.fr/document/EC4070FAFB9A74C3D3A087E336BD481FFF69FB66/enrichments/catWos"><teiHeader><profileDesc><textClass><classCode scheme="WOS">MEDICINE, GENERAL & INTERNAL</classCode></textClass></profileDesc></teiHeader></istex:catWosTEI></enrichments><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000097 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Corpus/biblio.hfd -nk 000097 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Corpus
|type= RBID
|clé= ISTEX:EC4070FAFB9A74C3D3A087E336BD481FFF69FB66
|texte= Enfermedad de Parkinson espordica y familiar: estudio comparativo
}}
| This area was generated with Dilib version V0.6.23. |  |