Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1
Identifieur interne : 002B15 ( Main/Exploration ); précédent : 002B14; suivant : 002B16Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1
Auteurs : Anne-Louise Leutenegger [France] ; Mustafa A. M. Salih [Arabie saoudite] ; Pablo Ibanez [France] ; Maowia M. Mukhtar [Soudan] ; Suzanne Lesage [France] ; All Arabi [Soudan] ; Ebba Lohmann [France] ; Alexandra Dürr [France] ; Ammar E. M. Ahmed [Soudan] ; Alexis Brice [France]Source :
- Archives of neurology : (Chicago) [ 0003-9942 ] ; 2006.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Soudan.
English descriptors
- KwdEn :
- Adenosine, Adenosine Triphosphate (metabolism), Adolescent, Adult, Age of Onset, Alanine (genetics), Amino Acid Sequence, Aspartic Acid (genetics), DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Nervous system diseases, Orientation, Parkinsonian Disorders (genetics), Parkinsonism, Protein Kinases (genetics), Sudan.
- MESH :
- chemical , genetics : Alanine, Aspartic Acid, Protein Kinases.
- chemical , metabolism : Adenosine Triphosphate.
- geographic : Sudan.
- genetics : Parkinsonian Disorders.
- Adolescent, Adult, Age of Onset, Amino Acid Sequence, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation.
Abstract
Background: Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at lp36 have been involved in autosomal recessive early-onset parkinsonism. Objective: To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene. Design: Clinical and genetic study. Setting: Collaborative study. Patients: Eight patients from Sudan with particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive dystonia-like to typical early-onset parkinsonism. Main Outcome Measures: The PINK1 genotype and Parkinson disease status of all available family members. Results: The disease was caused by a novel mutation, p.A217D, located in the highly conserved adenosine triphosphate orientation site of the PINK1 kinase domain. Conclusion: This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.
Affiliations:
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Le document en format XML
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<country>France</country>
<wicri:noRegion>Hôpitaux de Paris (AP-HP)</wicri:noRegion>
<wicri:noRegion>Assistance Publique, Hôpitaux de Paris (AP-HP)</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</s1>
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<wicri:noRegion>Université Paris 6-Pierre et Marie Curie</wicri:noRegion>
<wicri:noRegion>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A. M." last="Salih">Mustafa A. M. Salih</name>
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<s2>Riyadh</s2>
<s3>SAU</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Arabie saoudite</country>
<wicri:noRegion>Riyadh</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ibanez, Pablo" sort="Ibanez, Pablo" uniqKey="Ibanez P" first="Pablo" last="Ibanez">Pablo Ibanez</name>
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<wicri:noRegion>Assistance Publique, Hôpitaux de Paris (AP-HP)</wicri:noRegion>
</affiliation>
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</affiliation>
</author>
<author><name sortKey="Mukhtar, Maowia M" sort="Mukhtar, Maowia M" uniqKey="Mukhtar M" first="Maowia M." last="Mukhtar">Maowia M. Mukhtar</name>
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<s3>SDN</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Soudan</country>
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</affiliation>
</author>
<author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
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</author>
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<s2>Khartoum</s2>
<s3>SDN</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Soudan</country>
<wicri:noRegion>Khartoum</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</s1>
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<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Assistance Publique, Hôpitaux de Paris (AP-HP)</s1>
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<wicri:noRegion>Hôpitaux de Paris (AP-HP)</wicri:noRegion>
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</affiliation>
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</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</s1>
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</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Département de Génétique, Cytogénétique et Embryologie</s1>
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<sZ>8 aut.</sZ>
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<country>France</country>
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<wicri:noRegion>Département de Génétique, Cytogénétique et Embryologie</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ahmed, Ammar E M" sort="Ahmed, Ammar E M" uniqKey="Ahmed A" first="Ammar E. M." last="Ahmed">Ammar E. M. Ahmed</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Physiology, Faculty of Medicine, University of Khartoum</s1>
<s2>Khartoum</s2>
<s3>SDN</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Soudan</country>
<wicri:noRegion>Khartoum</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</s1>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
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<sZ>8 aut.</sZ>
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<country>France</country>
<wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion>
<wicri:noRegion>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Assistance Publique, Hôpitaux de Paris (AP-HP)</s1>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
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<country>France</country>
<wicri:noRegion>Hôpitaux de Paris (AP-HP)</wicri:noRegion>
<wicri:noRegion>Assistance Publique, Hôpitaux de Paris (AP-HP)</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</s1>
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<wicri:noRegion>Université Paris 6-Pierre et Marie Curie</wicri:noRegion>
<wicri:noRegion>Faculté de Médecine, Université Paris 6-Pierre et Marie Curie</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Département de Génétique, Cytogénétique et Embryologie</s1>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>Cytogénétique et Embryologie</wicri:noRegion>
<wicri:noRegion>Département de Génétique, Cytogénétique et Embryologie</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Fédération de Neurologie, Hôpital de la Pitié-Salpêtrière, AP-HP</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Archives of neurology : (Chicago)</title>
<title level="j" type="abbreviated">Arch. neurol. : (Chic.)</title>
<idno type="ISSN">0003-9942</idno>
<imprint><date when="2006">2006</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Archives of neurology : (Chicago)</title>
<title level="j" type="abbreviated">Arch. neurol. : (Chic.)</title>
<idno type="ISSN">0003-9942</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adenosine</term>
<term>Adenosine Triphosphate (metabolism)</term>
<term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Alanine (genetics)</term>
<term>Amino Acid Sequence</term>
<term>Aspartic Acid (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Orientation</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Parkinsonism</term>
<term>Protein Kinases (genetics)</term>
<term>Sudan</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Alanine</term>
<term>Aspartic Acid</term>
<term>Protein Kinases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Adenosine Triphosphate</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Sudan</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Amino Acid Sequence</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinsonisme</term>
<term>Mutation</term>
<term>Adénosine</term>
<term>Orientation</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Soudan</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Background: Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at lp36 have been involved in autosomal recessive early-onset parkinsonism. Objective: To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene. Design: Clinical and genetic study. Setting: Collaborative study. Patients: Eight patients from Sudan with particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive dystonia-like to typical early-onset parkinsonism. Main Outcome Measures: The PINK1 genotype and Parkinson disease status of all available family members. Results: The disease was caused by a novel mutation, p.A217D, located in the highly conserved adenosine triphosphate orientation site of the PINK1 kinase domain. Conclusion: This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.</div>
</front>
</TEI>
<affiliations><list><country><li>Arabie saoudite</li>
<li>France</li>
<li>Soudan</li>
</country>
<region><li>Île-de-France</li>
</region>
<settlement><li>Paris</li>
</settlement>
</list>
<tree><country name="France"><noRegion><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name>
</noRegion>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<name sortKey="Ibanez, Pablo" sort="Ibanez, Pablo" uniqKey="Ibanez P" first="Pablo" last="Ibanez">Pablo Ibanez</name>
<name sortKey="Ibanez, Pablo" sort="Ibanez, Pablo" uniqKey="Ibanez P" first="Pablo" last="Ibanez">Pablo Ibanez</name>
<name sortKey="Ibanez, Pablo" sort="Ibanez, Pablo" uniqKey="Ibanez P" first="Pablo" last="Ibanez">Pablo Ibanez</name>
<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name>
<name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name>
<name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
<name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
<name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name>
</country>
<country name="Arabie saoudite"><noRegion><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A. M." last="Salih">Mustafa A. M. Salih</name>
</noRegion>
</country>
<country name="Soudan"><noRegion><name sortKey="Mukhtar, Maowia M" sort="Mukhtar, Maowia M" uniqKey="Mukhtar M" first="Maowia M." last="Mukhtar">Maowia M. Mukhtar</name>
</noRegion>
<name sortKey="Ahmed, Ammar E M" sort="Ahmed, Ammar E M" uniqKey="Ahmed A" first="Ammar E. M." last="Ahmed">Ammar E. M. Ahmed</name>
<name sortKey="Arabi, All" sort="Arabi, All" uniqKey="Arabi A" first="All" last="Arabi">All Arabi</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonFranceV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002B15 | SxmlIndent | more
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HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002B15 | SxmlIndent | more
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{{Explor lien |wiki= Wicri/Sante |area= ParkinsonFranceV1 |flux= Main |étape= Exploration |type= RBID |clé= Pascal:06-0451706 |texte= Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1 }}
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