Elsevier

The Lancet

Volume 364, Issue 9440, 25 September–1 October 2004, Pages 1167-1169
The Lancet

Research Letters
α-synuclein locus duplication as a cause of familial Parkinson's disease

https://doi.org/10.1016/S0140-6736(04)17103-1Get rights and content

Summary

Genomic triplication of the α-synuclein gene (SNCA) has been reported to cause hereditary early-onset parkinsonism with dementia. These findings prompted us to screen for multiplication of the SNCA locus in nine families in whom parkinsonism segregates as an autosomal dominant trait. One kindred was identified with SNCA duplication by semiquantitative PCR and confirmed by fluorescent in-situ hybridisation analysis in peripheral leucocytes. By contrast with SNCA triplication families, the clinical phenotype of SNCA duplication closely resembles idiopathic Parkinson's disease, which has a late age-of-onset, progresses slowly, and in which neither cognitive decline nor dementia are prominent. These findings suggest a direct relation between SNCA gene dosage and disease progression.

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