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Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family

✍ Scribed by Anja Hiller; Johann M. Hagenah; Ana Djarmati; Katja Hedrich; Kathrin Reetz; Christiane Schneider-Gold; Wolfgang Kress; Alexander Münchau; Christine Klein

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
72 KB
Volume
22
Category
Article
ISSN
0885-3185

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✦ Synopsis

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 the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.

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