Phenotypic spectrum of PINK1‐associated parkinsonism in 15 mutation carriers from 1 family
- 22 January 2007
- journal article
- research article
- Published by Wiley in Movement Disorders
- Vol. 22 (1), 145-147
- https://doi.org/10.1002/mds.21059
Abstract
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. © 2006 Movement Disorder SocietyThis publication has 6 references indexed in Scilit:
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