Mutation, sequence analysis, and association studies of alpha-synuclein in Parkinson's disease

A mutation within the alpha-synuclein gene on human chromosome 4 has been reported to segregate with PD in an Italian family. We screened a sample of familial cases of PD for mutation in the alpha-synuclein gene. None of the familial cases of PD carried a mutation within the alpha-synuclein gene, and no association was detected between PD and alleles of a dinucleotide repeat marker within the alpha-synuclein gene. We conclude that variation within the alpha-synuclein gene does not play a significant role in the risk for PD in our sample.