Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.
Identifieur interne : 006537 ( Main/Merge ); précédent : 006536; suivant : 006538Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.
Auteurs : P. Ibá Ez [France] ; A-M Bonnet ; B. Débarges ; E. Lohmann ; F. Tison ; P. Pollak ; Yves Agid ; A. Dürr ; A. BriceSource :
- Lancet (London, England) [ 1474-547X ]
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Disease Progression, Female, Gene Duplication, Humans, Lewy Body Disease (genetics), Male, Microsatellite Repeats, Middle Aged, Mutation, Missense, Nerve Tissue Proteins (genetics), Parkinson Disease (genetics), Phenotype, Polymerase Chain Reaction, Synucleins, alpha-Synuclein.
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- genetics : Lewy Body Disease, Parkinson Disease.
- Adult, Age of Onset, Aged, Aged, 80 and over, Disease Progression, Female, Gene Duplication, Humans, Male, Microsatellite Repeats, Middle Aged, Mutation, Missense, Phenotype, Polymerase Chain Reaction, Synucleins, alpha-Synuclein.
Abstract
The alpha-synuclein gene (SNCA) has been implicated in autosomal dominant forms of Parkinson's disease. We screened 119 individuals from families with this rare form of the disease for SNCA duplications by semiquantitative multiplex PCR. Two patients had duplications, which were confirmed by analysis of intragenic and flanking microsatellite markers. The phenotype in both patients was indistinguishable from idiopathic Parkinson's disease and no atypical features were present, by contrast with reports of families with triplication of the same gene. These results indicate that SNCA is more frequently associated with familial Parkinson's disease than previously thought, and that there is a clear dosage effect according to the number of supernumerary copies of this gene.
DOI: 10.1016/S0140-6736(04)17104-3
PubMed: 15451225
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Ibá Ez</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U289, Neurologie et Thérapeutique Expérimentale, Hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U289, Neurologie et Thérapeutique Expérimentale, Hôpital de la Pitié-Salpêtrière, AP-HP, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Bonnet, A M" sort="Bonnet, A M" uniqKey="Bonnet A" first="A-M" last="Bonnet">A-M Bonnet</name></author><author><name sortKey="Debarges, B" sort="Debarges, B" uniqKey="Debarges B" first="B" last="Débarges">B. Débarges</name></author><author><name sortKey="Lohmann, E" sort="Lohmann, E" uniqKey="Lohmann E" first="E" last="Lohmann">E. Lohmann</name></author><author><name sortKey="Tison, F" sort="Tison, F" uniqKey="Tison F" first="F" last="Tison">F. Tison</name></author><author><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P" last="Pollak">P. Pollak</name></author><author><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y" last="Agid">Yves Agid</name><affiliation></affiliation></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. 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Ibá Ez</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U289, Neurologie et Thérapeutique Expérimentale, Hôpital de la Pitié-Salpêtrière, AP-HP, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U289, Neurologie et Thérapeutique Expérimentale, Hôpital de la Pitié-Salpêtrière, AP-HP, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Bonnet, A M" sort="Bonnet, A M" uniqKey="Bonnet A" first="A-M" last="Bonnet">A-M Bonnet</name></author><author><name sortKey="Debarges, B" sort="Debarges, B" uniqKey="Debarges B" first="B" last="Débarges">B. Débarges</name></author><author><name sortKey="Lohmann, E" sort="Lohmann, E" uniqKey="Lohmann E" first="E" last="Lohmann">E. Lohmann</name></author><author><name sortKey="Tison, F" sort="Tison, F" uniqKey="Tison F" first="F" last="Tison">F. Tison</name></author><author><name sortKey="Pollak, P" sort="Pollak, P" uniqKey="Pollak P" first="P" last="Pollak">P. Pollak</name></author><author><name sortKey="Agid, Y" sort="Agid, Y" uniqKey="Agid Y" first="Y" last="Agid">Yves Agid</name><affiliation></affiliation></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name></author></analytic><series><title level="j">Lancet (London, England)</title><idno type="eISSN">1474-547X</idno></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Disease Progression</term><term>Female</term><term>Gene Duplication</term><term>Humans</term><term>Lewy Body Disease (genetics)</term><term>Male</term><term>Microsatellite Repeats</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Nerve Tissue Proteins (genetics)</term><term>Parkinson Disease (genetics)</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Synucleins</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lewy Body Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Disease Progression</term><term>Female</term><term>Gene Duplication</term><term>Humans</term><term>Male</term><term>Microsatellite Repeats</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Synucleins</term><term>alpha-Synuclein</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The alpha-synuclein gene (SNCA) has been implicated in autosomal dominant forms of Parkinson's disease. We screened 119 individuals from families with this rare form of the disease for SNCA duplications by semiquantitative multiplex PCR. Two patients had duplications, which were confirmed by analysis of intragenic and flanking microsatellite markers. The phenotype in both patients was indistinguishable from idiopathic Parkinson's disease and no atypical features were present, by contrast with reports of families with triplication of the same gene. These results indicate that SNCA is more frequently associated with familial Parkinson's disease than previously thought, and that there is a clear dosage effect according to the number of supernumerary copies of this gene.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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