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Association between Parkinson's disease and glucocerebrosidase mutations in Brazil

✍ Scribed by Mariana Spitz; Roberto Rozenberg; Lygia da Veiga Pereira; Egberto Reis Barbosa


Book ID
116820363
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
115 KB
Volume
14
Category
Article
ISSN
1353-8020

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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.

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## 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

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## Abstract A body of work has emerged over the past decade demonstrating a relationship between mutations in glucocerebrosidase gene (__GBA__), the gene implicated in Gaucher disease (GD), and the development of parkinsonism. Several different lines of research support this relationship. First, pa