title: 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 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.
authors: Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil. alexandreacmachado@hotmail.com
authors: Alexandre Aluizio Costa
authors: AA
authors: Machado
authors: Marta Mitiko
authors: MM
authors: Deguti
authors: Janine
authors: J
authors: Genschel
authors: Eduardo Luiz Rachid
authors: EL
authors: Cançado
authors: Bettina
authors: B
authors: Bochow
authors: Hartmut
authors: H
authors: Schmidt
authors: Egberto Reis
authors: ER
authors: Barbosa
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D001938:Brazil; D027682:Cation Transport Proteins / Q000235:genetics*; D015331:Cohort Studies; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009460:Neurologic Examination
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases