Phenotypic spectrum of PINK1‐associated parkinsonism in 15 mutation carriers from 1 family
Identifieur interne : 003789 ( Istex/Curation ); précédent : 003788; suivant : 003790Phenotypic 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.
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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. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.21059
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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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