Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.
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Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family. / Hiller, Anja; Hagenah, Johann M; Djarmati, Ana; Hedrich, Katja; Reetz, Kathrin; Schneider-Gold, Christiane; Kress, Wolfgang; Münchau, Alexander; Klein, Christine.
In: MOVEMENT DISORD, Vol. 22, No. 1, 1, 2007, p. 145-147.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.
AU - Hiller, Anja
AU - Hagenah, Johann M
AU - Djarmati, Ana
AU - Hedrich, Katja
AU - Reetz, Kathrin
AU - Schneider-Gold, Christiane
AU - Kress, Wolfgang
AU - Münchau, Alexander
AU - Klein, Christine
PY - 2007
Y1 - 2007
N2 - 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.
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.
M3 - SCORING: Journal article
VL - 22
SP - 145
EP - 147
JO - MOVEMENT DISORD
JF - MOVEMENT DISORD
SN - 0885-3185
IS - 1
M1 - 1
ER -