Genetic analysis of synphilin-1 in familial Parkinson's disease

M. Farrer; A. Destée; C. Levecque; A. Singleton; S. Engelender; E. Becquet; V. Mouroux; F. Richard; L. Defebvre; R. Crook; D. Hernandez; C. A. Ross; J. Hardy; P. Amouyel; M. C. Chartier-Harlin

doi:10.1006/nbdi.2000.0326

Genetic analysis of synphilin-1 in familial Parkinson's disease

M. Farrer, A. Destée, C. Levecque, A. Singleton, S. Engelender, E. Becquet, V. Mouroux, F. Richard, L. Defebvre, R. Crook, D. Hernandez, C. A. Ross, J. Hardy, P. Amouyel, M. C. Chartier-Harlin

School of Medicine

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

Abstract

α-Synuclein is present in Lewy bodies of patients with both sporadic and familial Parkinson's disease. However, pathogenic mutations Ala30Pro and Ala53Thr in α-synuclein are rare causes of disease. Synphilin-1 has been demonstrated to associate with α-synuclein and promote the formation of cytosolic inclusions in vitro. Two-point genetic linkage analysis of a dinucleotide repeat within the synphilin-1 gene initially implicated this locus as a cause of Parkinson's disease in three of nine families. However, subsequent haplotype, sequencing, and association analyses in these three families and an independent case-control series suggest that variability within the locus does not confer susceptibility to Parkinson's disease.

Original language	English (US)
Pages (from-to)	317-323
Number of pages	7
Journal	Neurobiology of Disease
Volume	8
Issue number	2
DOIs	https://doi.org/10.1006/nbdi.2000.0326
State	Published - 2001

ASJC Scopus subject areas

Neurology

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abstract = "α-Synuclein is present in Lewy bodies of patients with both sporadic and familial Parkinson's disease. However, pathogenic mutations Ala30Pro and Ala53Thr in α-synuclein are rare causes of disease. Synphilin-1 has been demonstrated to associate with α-synuclein and promote the formation of cytosolic inclusions in vitro. Two-point genetic linkage analysis of a dinucleotide repeat within the synphilin-1 gene initially implicated this locus as a cause of Parkinson's disease in three of nine families. However, subsequent haplotype, sequencing, and association analyses in these three families and an independent case-control series suggest that variability within the locus does not confer susceptibility to Parkinson's disease.",

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AU - Farrer, M.

AU - Destée, A.

AU - Levecque, C.

AU - Singleton, A.

AU - Engelender, S.

AU - Becquet, E.

AU - Mouroux, V.

AU - Richard, F.

AU - Defebvre, L.

AU - Crook, R.

AU - Hernandez, D.

AU - Ross, C. A.

AU - Hardy, J.

AU - Amouyel, P.

AU - Chartier-Harlin, M. C.

PY - 2001

Y1 - 2001

N2 - α-Synuclein is present in Lewy bodies of patients with both sporadic and familial Parkinson's disease. However, pathogenic mutations Ala30Pro and Ala53Thr in α-synuclein are rare causes of disease. Synphilin-1 has been demonstrated to associate with α-synuclein and promote the formation of cytosolic inclusions in vitro. Two-point genetic linkage analysis of a dinucleotide repeat within the synphilin-1 gene initially implicated this locus as a cause of Parkinson's disease in three of nine families. However, subsequent haplotype, sequencing, and association analyses in these three families and an independent case-control series suggest that variability within the locus does not confer susceptibility to Parkinson's disease.

AB - α-Synuclein is present in Lewy bodies of patients with both sporadic and familial Parkinson's disease. However, pathogenic mutations Ala30Pro and Ala53Thr in α-synuclein are rare causes of disease. Synphilin-1 has been demonstrated to associate with α-synuclein and promote the formation of cytosolic inclusions in vitro. Two-point genetic linkage analysis of a dinucleotide repeat within the synphilin-1 gene initially implicated this locus as a cause of Parkinson's disease in three of nine families. However, subsequent haplotype, sequencing, and association analyses in these three families and an independent case-control series suggest that variability within the locus does not confer susceptibility to Parkinson's disease.

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Genetic analysis of synphilin-1 in familial Parkinson's disease

Abstract

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