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Phenotypic spectrum of PINK1‐associated parkinsonism in 15 mutation carriers from 1 family
Author(s) -
Hiller Anja,
Hagenah Johann M.,
Djarmati Ana,
Hedrich Katja,
Reetz Kathrin,
SchneiderGold Christiane,
Kress Wolfgang,
Münchau Alexander,
Klein Christine
Publication year - 2007
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21059
Subject(s) - parkinsonism , pink1 , asymptomatic carrier , mutation , phenotype , asymptomatic , genetics , heterozygote advantage , allele , medicine , biology , parkin , parkinson's disease , gene , disease
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 Society