Phenotypic spectrum of PINK1‐associated parkinsonism in 15 mutation carriers from 1 family
Identifieur interne : 002C75 ( Main/Curation ); précédent : 002C74; suivant : 002C76Phenotypic spectrum of PINK1‐associated parkinsonism in 15 mutation carriers from 1 family
Auteurs : Anja Hiller [Allemagne] ; Johann M. Hagenah [Allemagne] ; Ana Djarmati [Allemagne] ; Katja Hedrich [Allemagne] ; Kathrin Reetz [Allemagne] ; Christiane Schneider-Gold [Allemagne] ; Wolfgang Kress [Allemagne] ; Alexander Münchau [Allemagne] ; Christine Klein [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Aged, Carrier, Carrier State, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Nervous system diseases, PINK1, Parkinsonian Disorders (genetics), Parkinsonism, Phenotype, Protein Kinases (genetics), mutation carriers, phenotype.
- MESH :
- chemical , genetics : Protein Kinases.
- genetics : Parkinsonian Disorders.
- Adult, Aged, Carrier State, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Phenotype.
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. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21059
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<series><title level="j" type="main">Movement disorders</title>
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<front><div type="abstract" xml:lang="en">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.</div>
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<term>Genetic Predisposition to Disease</term>
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<front><div type="abstract" xml:lang="en">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</div>
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