Article
Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.
Annals of neurology - 1 Jul 2000
Klein C, Pramstaller P P, Kis B, Page C C, Kann M, Leung J, Woodward H, Castellan C C, Scherer M, Vieregge P, Breakefield X O, Kramer P L, Ozelius L J
Abstract excerpt
A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism. Here we present a large pedigree from South Tyrol (a region of northern Italy) with adult-onset, clinically typical tremor-dominant parkinsonism of apparently autosomal dominant inheritance. Haplotype analysis...
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