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|Type:||Artigo de periódico|
|Title:||Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3|
Donis, K. C.
Rieder, C. R. M.
Emmel, V. E.
Franca, M., Jr.
D'Abreu, A. C.
Cendes, I. Lopes
Saraiva-Pereira, M. L.
Jardirn, L. B.
|Abstract:||Machado-Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3) may rarely presents a parkinsonian phenotype. Considering that mutations in the glucocerebrosidase (GBA) gene have been associated with Parkinson disease, we investigated whether these would be more prevalent in MJD/SCA3 patients with parkinsonian manifestations than in those without them. Methods: MJD/SCA3 patients with parkinsonian features were identified and compared to relatives and to a MJD/SCA3 control group with no such features. The GBA gene was sequenced and, in a subset of patients and in normal volunteers, GBA enzyme activity was measured. Results: We have identified nine index MJD/SCA3 patients with parkinsonian manifestations. Overall. GBA sequence variations were found in 3/9 MJD/SCA3 index cases with parkinsonian manifestations (33%) and in 0/40 MJD/SCA3 controls without parkinsonism (p = 0.03, Fisher exact test). The GBA sequence variations found were p.K(-27)R, p.E326K, and p.T369M. The latter two sequence variations were also found in two symptomatic relatives with no parkinsonian manifestations. A MJD/SCA3 relative belonging to the first positive pedigree and carrier of the p.K(-27)R mutation also presented parkinsonian manifestations. GBA activity in MJD/SCA3 patients was similar to those found in the normal control group. Conclusion: Sequence variations at the GBA gene may play a role as a minor, modifying gene of MJD/SCA3 phenotype. This hypothetical role was not related to changes in GBA activity in peripheral leukocytes. (C) 2011 Elsevier Ltd. All rights reserved.|
Machado Joseph disease
Spinocerebellar ataxia 3
|Appears in Collections:||FCM - Artigos e Materiais de Revistas Científicas|
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