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α-synuclein locus duplication as a cause of familial Parkinson's disease.

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Title: α-synuclein locus duplication as a cause of familial Parkinson's disease.
Authors: Chartier-Harlin, Marie-Christine, Kachergus, Jennifer, Roumier, Christophe, Mouroux, Vincent, Douay, Xavier, Lincoln, Sarah, Levecque, Clotilde, Larvor, Lydie, Andrieux, Joris, Hulihan, Mary, Waucquier, Nawal, Defebvre, Luc, Amouyel, Philippe, Farrer, Matthew, Destée, Alain
Source: Lancet. 9/25/2004, Vol. 364 Issue 9440, p1167-1169. 3p.
Subjects: Brain diseases, Dementia, Medical genetics, Genetic disorders, Medical research, Genetics
Abstract: Genomic triplication of the α-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 hybridization 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. [ABSTRACT FROM AUTHOR]
Copyright of Lancet is the property of Lancet and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: α-synuclein locus duplication as a cause of familial Parkinson's disease.
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  Data: <searchLink fieldCode="AR" term="%22Chartier-Harlin%2C+Marie-Christine%22">Chartier-Harlin, Marie-Christine</searchLink><br /><searchLink fieldCode="AR" term="%22Kachergus%2C+Jennifer%22">Kachergus, Jennifer</searchLink><br /><searchLink fieldCode="AR" term="%22Roumier%2C+Christophe%22">Roumier, Christophe</searchLink><br /><searchLink fieldCode="AR" term="%22Mouroux%2C+Vincent%22">Mouroux, Vincent</searchLink><br /><searchLink fieldCode="AR" term="%22Douay%2C+Xavier%22">Douay, Xavier</searchLink><br /><searchLink fieldCode="AR" term="%22Lincoln%2C+Sarah%22">Lincoln, Sarah</searchLink><br /><searchLink fieldCode="AR" term="%22Levecque%2C+Clotilde%22">Levecque, Clotilde</searchLink><br /><searchLink fieldCode="AR" term="%22Larvor%2C+Lydie%22">Larvor, Lydie</searchLink><br /><searchLink fieldCode="AR" term="%22Andrieux%2C+Joris%22">Andrieux, Joris</searchLink><br /><searchLink fieldCode="AR" term="%22Hulihan%2C+Mary%22">Hulihan, Mary</searchLink><br /><searchLink fieldCode="AR" term="%22Waucquier%2C+Nawal%22">Waucquier, Nawal</searchLink><br /><searchLink fieldCode="AR" term="%22Defebvre%2C+Luc%22">Defebvre, Luc</searchLink><br /><searchLink fieldCode="AR" term="%22Amouyel%2C+Philippe%22">Amouyel, Philippe</searchLink><br /><searchLink fieldCode="AR" term="%22Farrer%2C+Matthew%22">Farrer, Matthew</searchLink><br /><searchLink fieldCode="AR" term="%22Destée%2C+Alain%22">Destée, Alain</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Lancet%22">Lancet</searchLink>. 9/25/2004, Vol. 364 Issue 9440, p1167-1169. 3p.
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  Data: <searchLink fieldCode="DE" term="%22Brain+diseases%22">Brain diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Dementia%22">Dementia</searchLink><br /><searchLink fieldCode="DE" term="%22Medical+genetics%22">Medical genetics</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Medical+research%22">Medical research</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink>
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  Data: Genomic triplication of the α-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 hybridization 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. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Lancet is the property of Lancet and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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              Text: 9/25/2004
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