Article
Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3.
Parkinsonism & related disorders - 1 Feb 2012
Siebert M, Donis K C, Socal M, Rieder C R M, Emmel V E, Vairo F, Michelin-Tirelli K, França M, D'Abreu A C, Bettencourt C, Lima M, Lopes Cendes I, Saraiva-Pereira M L, Jardim L B
Abstract excerpt
UNLABELLED: 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...
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