Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
β Scribed by Sidransky, E.; Nalls, M.A.; Aasly, J.O.; Aharon-Peretz, J.; Annesi, G.; Barbosa, E.R.; Bar-Shira, A.; Berg, D.; Bras, J.; Brice, A.
- Book ID
- 111654858
- Publisher
- Massachusetts Medical Society
- Year
- 2009
- Tongue
- English
- Weight
- 430 KB
- Volume
- 361
- Category
- Article
- ISSN
- 0096-6762
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## 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
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.
## 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