Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study.
Identifieur interne : 002942 ( PubMed/Curation ); précédent : 002941; suivant : 002943Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study.
Auteurs : Maria Teresa Pellecchia [Italie] ; Andrea Varrone ; Grazia Annesi ; Marianna Amboni ; Giulio Cicarelli ; Valeria Sansone ; Ferdinanda Annesi ; Francesca Emanuela Rocca ; Carmine Vitale ; Sabina Pappatà ; Aldo Quattrone ; Paolo BaroneSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Corpus Striatum (metabolism), Corpus Striatum (physiopathology), Diagnosis, Differential, Essential Tremor (diagnosis), Essential Tremor (genetics), Essential Tremor (physiopathology), Genes, Dominant (genetics), Humans, Iodine Radioisotopes (diagnostic use), Iodine Radioisotopes (pharmacokinetics), Mutation, Missense (genetics), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Parkinsonian Disorders (physiopathology), Pedigree, Phenotype, Point Mutation (genetics), Polymerase Chain Reaction, Substantia Nigra (metabolism), Substantia Nigra (physiopathology), Tomography, Emission-Computed, Single-Photon, Tropanes (diagnostic use), Tropanes (pharmacokinetics), Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , diagnostic use : Iodine Radioisotopes, Tropanes.
- diagnosis : Essential Tremor, Parkinsonian Disorders.
- genetics : Essential Tremor, Genes, Dominant, Mutation, Missense, Parkinsonian Disorders, Point Mutation, Ubiquitin-Protein Ligases.
- metabolism : Corpus Striatum, Substantia Nigra.
- chemical , pharmacokinetics : Iodine Radioisotopes, Tropanes.
- physiopathology : Corpus Striatum, Essential Tremor, Parkinsonian Disorders, Substantia Nigra.
- Diagnosis, Differential, Humans, Pedigree, Phenotype, Polymerase Chain Reaction, Tomography, Emission-Computed, Single-Photon.
Abstract
We report a family with 5 affected individuals manifesting either essential tremor (ET), Parkinsonism, or both, consistent with pseudo-dominant inheritance of PARK2. Two homozygotes presented postural and kinetic tremor several years before the onset of Parkinsonism. Postural and kinetic tremor mimicking ET was the only feature in 1 homozygous and 2 heterozygous carriers of the mutation. Striatal dopamine transporter density was reduced in accordance with phenotype and number of mutated alleles. In 3 homozygotes and 1 heterozygote, a 2-year follow-up single photon emission computed tomography suggested no progression of nigrostriatal deficit.
DOI: 10.1002/mds.21262
PubMed: 17149727
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uniqKey="Sansone V" first="Valeria" last="Sansone">Valeria Sansone</name></author><author><name sortKey="Annesi, Ferdinanda" sort="Annesi, Ferdinanda" uniqKey="Annesi F" first="Ferdinanda" last="Annesi">Ferdinanda Annesi</name></author><author><name sortKey="Rocca, Francesca Emanuela" sort="Rocca, Francesca Emanuela" uniqKey="Rocca F" first="Francesca Emanuela" last="Rocca">Francesca Emanuela Rocca</name></author><author><name sortKey="Vitale, Carmine" sort="Vitale, Carmine" uniqKey="Vitale C" first="Carmine" last="Vitale">Carmine Vitale</name></author><author><name sortKey="Pappata, Sabina" sort="Pappata, Sabina" uniqKey="Pappata S" first="Sabina" last="Pappatà">Sabina Pappatà</name></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name></author><author><name sortKey="Barone, Paolo" sort="Barone, Paolo" uniqKey="Barone P" first="Paolo" last="Barone">Paolo Barone</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Corpus Striatum (metabolism)</term><term>Corpus Striatum (physiopathology)</term><term>Diagnosis, Differential</term><term>Essential Tremor (diagnosis)</term><term>Essential Tremor (genetics)</term><term>Essential Tremor (physiopathology)</term><term>Genes, Dominant (genetics)</term><term>Humans</term><term>Iodine Radioisotopes (diagnostic use)</term><term>Iodine Radioisotopes (pharmacokinetics)</term><term>Mutation, Missense (genetics)</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonian Disorders (physiopathology)</term><term>Pedigree</term><term>Phenotype</term><term>Point Mutation (genetics)</term><term>Polymerase Chain Reaction</term><term>Substantia Nigra (metabolism)</term><term>Substantia Nigra (physiopathology)</term><term>Tomography, Emission-Computed, Single-Photon</term><term>Tropanes (diagnostic use)</term><term>Tropanes (pharmacokinetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Iodine Radioisotopes</term><term>Tropanes</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Essential Tremor</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term><term>Genes, Dominant</term><term>Mutation, Missense</term><term>Parkinsonian Disorders</term><term>Point Mutation</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Corpus Striatum</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" type="chemical" qualifier="pharmacokinetics" xml:lang="en"><term>Iodine Radioisotopes</term><term>Tropanes</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Corpus Striatum</term><term>Essential Tremor</term><term>Parkinsonian Disorders</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Diagnosis, Differential</term><term>Humans</term><term>Pedigree</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Tomography, Emission-Computed, Single-Photon</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report a family with 5 affected individuals manifesting either essential tremor (ET), Parkinsonism, or both, consistent with pseudo-dominant inheritance of PARK2. Two homozygotes presented postural and kinetic tremor several years before the onset of Parkinsonism. Postural and kinetic tremor mimicking ET was the only feature in 1 homozygous and 2 heterozygous carriers of the mutation. Striatal dopamine transporter density was reduced in accordance with phenotype and number of mutated alleles. In 3 homozygotes and 1 heterozygote, a 2-year follow-up single photon emission computed tomography suggested no progression of nigrostriatal deficit.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17149727</PMID><DateCreated><Year>2007</Year><Month>04</Month><Day>03</Day></DateCreated><DateCompleted><Year>2007</Year><Month>06</Month><Day>22</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>4</Issue><PubDate><Year>2007</Year><Month>Mar</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study.</ArticleTitle><Pagination><MedlinePgn>559-63</MedlinePgn></Pagination><Abstract><AbstractText>We report a family with 5 affected individuals manifesting either essential tremor (ET), Parkinsonism, or both, consistent with pseudo-dominant inheritance of PARK2. Two homozygotes presented postural and kinetic tremor several years before the onset of Parkinsonism. Postural and kinetic tremor mimicking ET was the only feature in 1 homozygous and 2 heterozygous carriers of the mutation. Striatal dopamine transporter density was reduced in accordance with phenotype and number of mutated alleles. In 3 homozygotes and 1 heterozygote, a 2-year follow-up single photon emission computed tomography suggested no progression of nigrostriatal deficit.</AbstractText><CopyrightInformation>(c) 2006 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Pellecchia</LastName><ForeName>Maria Teresa</ForeName><Initials>MT</Initials><AffiliationInfo><Affiliation>Department of Neurological Sciences, University Federico II, Napoli, Italy. pellec3@hotmail.com</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Varrone</LastName><ForeName>Andrea</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Annesi</LastName><ForeName>Grazia</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Amboni</LastName><ForeName>Marianna</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Cicarelli</LastName><ForeName>Giulio</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Sansone</LastName><ForeName>Valeria</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Annesi</LastName><ForeName>Ferdinanda</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Rocca</LastName><ForeName>Francesca Emanuela</ForeName><Initials>FE</Initials></Author><Author ValidYN="Y"><LastName>Vitale</LastName><ForeName>Carmine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Pappatà</LastName><ForeName>Sabina</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Quattrone</LastName><ForeName>Aldo</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Barone</LastName><ForeName>Paolo</ForeName><Initials>P</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D007457">Iodine Radioisotopes</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D014326">Tropanes</NameOfSubstance></Chemical><Chemical><RegistryNumber>155797-99-2</RegistryNumber><NameOfSubstance UI="C087552">2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="C111567">parkin protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003342">Corpus Striatum</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003937">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020329">Essential Tremor</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005799">Genes, Dominant</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007457">Iodine Radioisotopes</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000176">diagnostic use</QualifierName><QualifierName MajorTopicYN="N" UI="Q000493">pharmacokinetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020125">Mutation, Missense</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016133">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013378">Substantia Nigra</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D015899">Tomography, Emission-Computed, Single-Photon</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014326">Tropanes</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000176">diagnostic use</QualifierName><QualifierName MajorTopicYN="N" UI="Q000493">pharmacokinetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>12</Month><Day>7</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>6</Month><Day>23</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>12</Month><Day>7</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21262</ArticleId><ArticleId IdType="pubmed">17149727</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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