## Abstract Recent studies have reported an association between the glucocerebrosidase (__GBA__) gene and Parkinson's disease (PD). To elucidate the role of this gene in our population, we screened 395 PD patients and 483 controls from southern Italy for the N370S and the L444P mutations. We found
Glucocerebrosidase gene mutations are associated with Parkinson's disease in Russia
β Scribed by Anton Emelyanov; Tatyana Boukina; Andrey Yakimovskii; Tatyana Usenko; Alesya Drosdova; Andrey Zakharchuk; Pavel Andoskin; Michael Dubina; Alexander Schwarzman; Sofya Pchelina
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 341 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
β¦ Synopsis
FIG. 1. MRI showed symmetric (A) hypointensity signal on T1weighted imaging and (B) hyperintensity signal on T2-weighted imaging in bilateral substantia nigra on admission. A repeated MRI after 3 months showed resolution of the lesions on (C) T2-weighted imaging and (D) T1-weighted imaging.
π SIMILAR VOLUMES
## Abstract Parkinson's disease (PD) is a common progressive neurodegenerative disorder characterized clinically by a combination of motor symptoms. Identifying novel PD genetic risk factors is important for understanding its pathogenesis. A recent study suggested that up to 21% of subjects with PD
## Communicated by Mark Paalman Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2
## Abstract An association between mutations in the __glucocerebrosidase__ (__GBA__) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common __GBA__ mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 ageβ and sexβmatched con