Article
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
Neurology - 12 Jul 2005
Bonifati V, Rohé C F, Breedveld G J, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl D J, Chien H F, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink M W, Maat-Kievit J A, Sampaio C, Antonini A, Stocchi F, Montagna P, Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, Oostra B A
Abstract excerpt
OBJECTIVE: To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset (<50 years) parkinsonism. METHODS: The authors studied 134 patients (116 sporadic and 18 familial; 77% Italian) and 90 Italian controls. The whole PINK1 coding region was sequenced from genomic DNA; cDNA was analyzed in selected cases. RESULTS: Homozygous pathogenic...
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