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

doi:10.1002/mds.21059

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^*

^*Corresponding author for this work

12 Citations (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.

Original language	English
Journal	Movement Disorders
Volume	22
Issue number	1
Pages (from-to)	145-147
Number of pages	3
ISSN	0885-3185
DOIs	https://doi.org/10.1002/mds.21059
Publication status	Published - 01.01.2007

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10.1002/mds.21059

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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.",

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AU - Reetz, Kathrin

AU - Schneider-Gold, Christiane

AU - Kress, Wolfgang

AU - Münchau, Alexander

AU - Klein, Christine

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

Abstract

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