Article
Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?
Archives of neurology - 1 Jun 2006
Hedrich Katja, Hagenah Johann, Djarmati Ana, Hiller Anja, Lohnau Thora, Lasek Kathrin, Grünewald Anne, Hilker Rüdiger, Steinlechner Susanne, Boston Heather, Kock Norman, Schneider-Gold Christiane, Kress Wolfram, Siebner Hartwig, Binkofski Ferdinand, Lencer Rebekka, Münchau Alexander, Klein Christine
Abstract excerpt
BACKGROUND: Although homozygous mutations in the PTEN-induced putative kinase 1 (PINK1) gene have been unequivocally associated with early-onset Parkinson disease (PD), the role of single heterozygous PINK1 mutations is less clear. OBJECTIVE: To investigate the role of homozygous and heterozygous PINK1 mutations in a large German pedigree (family W). DESIGN: Mutation analysis of PINK1 and results of standardized...
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