Neurological manifestations and ATP7B mutations in Wilson's disease

Abstract Wilson's disease (WD) is a rare inborn metabolic error characterized by deficient biliary copper excretion secondary to ATP7B gene mutations. Neurological presentations are variable in respect to both pattern and age of onset; commonly a movement disorder presents in the second or thir...

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Bibliographic Details
Published in:Parkinsonism & related disorders 2008-01, Vol.14 (3), p.246-249
Main Authors: Machado, Alexandre Aluizio Costa, Deguti, Marta Mitiko, Genschel, Janine, Cançado, Eduardo Luiz Rachid, Bochow, Bettina, Schmidt, Hartmut, Barbosa, Egberto Reis
Format: Article
Language:English
Subjects:
Adenosine Triphosphatases - genetics
ATP7B mutations
Brazil
Cation Transport Proteins - genetics
Cohort Studies
Copper-transporting ATPases
DNA Mutational Analysis
Female
Frameshift Mutation - genetics
Gene Frequency
Genotype
Genotype–phenotype correlations
Hepatolenticular Degeneration - genetics
Hepatolenticular Degeneration - physiopathology
Humans
Male
Neurologic Examination
Neurological manifestations
Neurology
Wilson's disease
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Summary:Abstract Wilson's disease (WD) is a rare inborn metabolic error characterized by deficient biliary copper excretion secondary to ATP7B gene mutations. Neurological presentations are variable in respect to both pattern and age of onset; commonly a movement disorder presents in the second or third decade. The aim of this study was to ascertain genotype correlations with distinct neurological manifestations in 41 WD patients in a Brazilian center for WD. A total of 23 distinct mutations were detected, and the frameshift 3402delC had the highest allelic frequency (31.7%). An association between 3402delC and dysphagia was detected ( p =0.01) but the limited number of patients is insufficient to allow one to draw conclusions. Both clinical studies analyzing larger cohorts and basic research on ATP7B protein function could potentially shed more light on our understanding of WD.
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2007.08.002