Article
Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.
Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2007
Hiller Anja, Hagenah Johann M, Djarmati Ana, Hedrich Katja, Reetz Kathrin, Schneider-Gold Christiane, Kress Wolfgang, Münchau Alexander, Klein Christine
Abstract excerpt
The phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in...
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