The G2019S LRRK2 mutation is uncommon amongst Greek patients with familial Parkinson's disease
β Scribed by S. Papapetropoulos; A. A. Argyriou; G. Mitsi; E. Chroni
- Book ID
- 111065281
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 64 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1351-5101
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract Among mutations associated with autosomal dominant and sporadic Parkinson's disease (PD) the G2019S substitution in the leucineβrich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwester
genes and who were found to be negative. 1 In this group of 122 patients, we identified 5 patients with an FMR1 premutation and in 4 of them a definite diagnosis of fragile Xassociated tremor/ataxia syndrome (FXTAS) could be made, based on the proposed diagnostic criteria for FXTAS. We proposed base