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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.

Original publication




Journal article


Neurobiol Dis

Publication Date





317 - 323


Aged, Alleles, Carrier Proteins, Chromosome Mapping, DNA Mutational Analysis, Female, Genetic Linkage, Haplotypes, Humans, Male, Middle Aged, Nerve Tissue Proteins, Parkinsonian Disorders, Pedigree