Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.
Identifieur interne : 000468 ( Ncbi/Checkpoint ); précédent : 000467; suivant : 000469Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.
Auteurs : Marie-Christine Chartier-Harlin [France] ; Jennifer Kachergus ; Christophe Roumier ; Vincent Mouroux ; Xavier Douay ; Sarah Lincoln ; Clotilde Levecque ; Lydie Larvor ; Joris Andrieux ; Mary Hulihan ; Nawal Waucquier ; Luc Defebvre ; Philippe Amouyel ; Matthew Farrer ; Alain DestéeSource :
- Lancet (London, England) [ 1474-547X ]
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Female, Gene Dosage, Gene Duplication, Humans, In Situ Hybridization, Fluorescence, Lewy Body Disease (genetics), Male, Microsatellite Repeats, Middle Aged, Mutation, Missense, Nerve Tissue Proteins (genetics), Parkinson Disease (diagnosis), Parkinson Disease (genetics), Polymerase Chain Reaction, Synucleins, alpha-Synuclein.
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- diagnosis : Parkinson Disease.
- genetics : Lewy Body Disease, Parkinson Disease.
- Adult, Age of Onset, Aged, Aged, 80 and over, Female, Gene Dosage, Gene Duplication, Humans, In Situ Hybridization, Fluorescence, Male, Microsatellite Repeats, Middle Aged, Mutation, Missense, Polymerase Chain Reaction, Synucleins, alpha-Synuclein.
Abstract
Genomic triplication of the alpha-synuclein gene (SNCA) has been reported to cause hereditary early-onset parkinsonism with dementia. These findings prompted us to screen for multiplication of the SNCA locus in nine families in whom parkinsonism segregates as an autosomal dominant trait. One kindred was identified with SNCA duplication by semiquantitative PCR and confirmed by fluorescent in-situ hybridisation analysis in peripheral leucocytes. By contrast with SNCA triplication families, the clinical phenotype of SNCA duplication closely resembles idiopathic Parkinson's disease, which has a late age-of-onset, progresses slowly, and in which neither cognitive decline nor dementia are prominent. These findings suggest a direct relation between SNCA gene dosage and disease progression.
DOI: 10.1016/S0140-6736(04)17103-1
PubMed: 15451224
Affiliations:
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last="Roumier">Christophe Roumier</name></author><author><name sortKey="Mouroux, Vincent" sort="Mouroux, Vincent" uniqKey="Mouroux V" first="Vincent" last="Mouroux">Vincent Mouroux</name></author><author><name sortKey="Douay, Xavier" sort="Douay, Xavier" uniqKey="Douay X" first="Xavier" last="Douay">Xavier Douay</name></author><author><name sortKey="Lincoln, Sarah" sort="Lincoln, Sarah" uniqKey="Lincoln S" first="Sarah" last="Lincoln">Sarah Lincoln</name></author><author><name sortKey="Levecque, Clotilde" sort="Levecque, Clotilde" uniqKey="Levecque C" first="Clotilde" last="Levecque">Clotilde Levecque</name></author><author><name sortKey="Larvor, Lydie" sort="Larvor, Lydie" uniqKey="Larvor L" first="Lydie" last="Larvor">Lydie Larvor</name></author><author><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name></author><author><name sortKey="Hulihan, Mary" sort="Hulihan, Mary" uniqKey="Hulihan M" first="Mary" 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scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Gene Dosage</term><term>Gene Duplication</term><term>Humans</term><term>In Situ Hybridization, Fluorescence</term><term>Male</term><term>Microsatellite Repeats</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Polymerase Chain Reaction</term><term>Synucleins</term><term>alpha-Synuclein</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genomic triplication of the alpha-synuclein gene (SNCA) has been reported to cause hereditary early-onset parkinsonism with dementia. These findings prompted us to screen for multiplication of the SNCA locus in nine families in whom parkinsonism segregates as an autosomal dominant trait. One kindred was identified with SNCA duplication by semiquantitative PCR and confirmed by fluorescent in-situ hybridisation analysis in peripheral leucocytes. By contrast with SNCA triplication families, the clinical phenotype of SNCA duplication closely resembles idiopathic Parkinson's disease, which has a late age-of-onset, progresses slowly, and in which neither cognitive decline nor dementia are prominent. These findings suggest a direct relation between SNCA gene dosage and disease progression.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Hauts-de-France</li><li>Nord-Pas-de-Calais</li></region><settlement><li>Lille</li></settlement></list><tree><noCountry><name sortKey="Amouyel, Philippe" sort="Amouyel, Philippe" uniqKey="Amouyel P" first="Philippe" last="Amouyel">Philippe Amouyel</name><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name><name sortKey="Douay, Xavier" sort="Douay, Xavier" uniqKey="Douay X" first="Xavier" last="Douay">Xavier Douay</name><name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name><name sortKey="Hulihan, Mary" sort="Hulihan, Mary" uniqKey="Hulihan M" first="Mary" last="Hulihan">Mary Hulihan</name><name sortKey="Kachergus, Jennifer" sort="Kachergus, Jennifer" uniqKey="Kachergus J" first="Jennifer" last="Kachergus">Jennifer Kachergus</name><name sortKey="Larvor, Lydie" sort="Larvor, Lydie" uniqKey="Larvor L" first="Lydie" last="Larvor">Lydie Larvor</name><name sortKey="Levecque, Clotilde" sort="Levecque, Clotilde" uniqKey="Levecque C" first="Clotilde" last="Levecque">Clotilde Levecque</name><name sortKey="Lincoln, Sarah" sort="Lincoln, Sarah" uniqKey="Lincoln S" first="Sarah" last="Lincoln">Sarah Lincoln</name><name sortKey="Mouroux, Vincent" sort="Mouroux, Vincent" uniqKey="Mouroux V" first="Vincent" last="Mouroux">Vincent Mouroux</name><name sortKey="Roumier, Christophe" sort="Roumier, Christophe" uniqKey="Roumier C" first="Christophe" last="Roumier">Christophe Roumier</name><name sortKey="Waucquier, Nawal" sort="Waucquier, Nawal" uniqKey="Waucquier N" first="Nawal" last="Waucquier">Nawal Waucquier</name></noCountry><country name="France"><region name="Hauts-de-France"><name sortKey="Chartier Harlin, Marie Christine" sort="Chartier Harlin, Marie Christine" uniqKey="Chartier Harlin M" first="Marie-Christine" last="Chartier-Harlin">Marie-Christine Chartier-Harlin</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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