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. 2001 Apr;8(2):317-23.
doi: 10.1006/nbdi.2000.0326.

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

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

M Farrer et al. Neurobiol Dis. 2001 Apr.

Abstract

alpha-Synuclein is present in Lewy bodies of patients with both sporadic and familial Parkinson's disease. However, pathogenic mutations Ala30Pro and Ala53Thr in alpha-synuclein are rare causes of disease. Synphilin-1 has been demonstrated to associate with alpha-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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