Data on the frequency of α-synuclein mutations in Parkinson's disease (PD) are limited. Screening the entire coding region in 1,921 PD patients with denaturing high performance liquid chromatography and subsequent sequencing we only detected silent mutations (g.2654A>G, g.10151G>A, and g.15986A>T) and the c.209G>A substitution corresponding to the p.A53T mutation. These results demonstrate that mutations in the α-synuclein gene are rare and suggest that other factors contribute to α-synuclein aggregation in the majority of PD patients.
|Number of pages||4|
|Publication status||Published - Sept 2005|
- Mutational screening
- Parkinson's disease
- Silent mutation