Article
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
Neurology - 8 May 2007
Di Fonzo A, Chien H F, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink M W, Montagna P, Libera A Dalla, Stocchi F, Goldwurm S, Ferreira J J, Meco G, Martignoni E, Lopiano L, Jardim L B, Oostra B A, Barbosa E R, Bonifati V
Abstract excerpt
OBJECTIVE: To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset <21 years) or young onset (between 21 and 40 years) Parkinson disease (YOPD). METHODS: We studied 46 patients, mostly from Italy or Brazil, including 11 with juvenile parkinsonism and 35 with YOPD. Thirty-three cases were sporadic and 13 had positive family history...
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