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

Anja Hiller, Johann M. Hagenah, Ana Djarmati, Katja Hedrich, Kathrin Reetz, Christiane Schneider-Gold, Wolfgang Kress, Alexander Münchau, Christine Klein*

*Korrespondierende/r Autor/-in für diese Arbeit
12 Zitate (Scopus)

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.

OriginalspracheEnglisch
ZeitschriftMovement Disorders
Jahrgang22
Ausgabenummer1
Seiten (von - bis)145-147
Seitenumfang3
ISSN0885-3185
DOIs
PublikationsstatusVeröffentlicht - 01.01.2007

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