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

Research output: Contribution to journalArticlepeer-review


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 languageEnglish (US)
Pages (from-to)317-323
Number of pages7
JournalNeurobiology of Disease
Issue number2
StatePublished - 2001

ASJC Scopus subject areas

  • Neurology


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