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Mov Disord. 2007 Jan;22(1):145-7.

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

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1
Department of Neurology, University of Lübeck, Lübeck, Germany.

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.

PMID:
17013904
DOI:
10.1002/mds.21059
[Indexed for MEDLINE]
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