Phenotypic spectrum of PINK1‐associated parkinsonism in 15 mutation carriers from 1 family | Zendy

Hiller Anja | Zendy; Hagenah Johann M. | Zendy; Djarmati Ana | Zendy; Hedrich Katja | Zendy; Reetz Kathrin | Zendy; SchneiderGold Christiane | Zendy; Kress Wolfgang | Zendy; Münchau Alexander | Zendy; Klein Christine | Zendy

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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

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