Abstract
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.
Original language | English |
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Pages (from-to) | 1301-1307 |
Number of pages | 7 |
Journal | Journal of Neural Transmission |
Volume | 123 |
DOIs | |
Publication status | Published - 2016 |
Keywords
- Genetics
- Parkinson’s disease
- SNCA
- α-synuclein
- Family
- Female
- Mutation
- Humans
- Middle Aged
- Parkinson Disease
- Phenotype
- alpha-Synuclein
- Genetic Predisposition to Disease