Approximately 15 % of PD patients with Parkinson Disease (PD) have the familial type and 5–10 % of these are known to have monogenic forms with either an autosomal dominant or a recessive inheritance pattern. Here, we report on a family carrying the A53T SNCA mutation and we review SNCA mutation phenotypes by comparing point mutations within each other as well as with duplication and triplication.
- Parkinson’s disease
- Middle Aged
- Parkinson Disease
- Genetic Predisposition to Disease