Neurological manifestations and ATP7B mutations in Wilson's disease
| Autor: | Eduardo Luiz Rachid Cançado, Marta Mitiko Deguti, Janine Genschel, Egberto Reis Barbosa, Alexandre Aluizio Costa Machado, Bettina Bochow, Hartmut H.-J. Schmidt |
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| Rok vydání: | 2008 |
| Předmět: |
Male
medicine.medical_specialty Pathology Genotype DNA Mutational Analysis Disease Biology Gastroenterology Frameshift mutation Cohort Studies Gene Frequency Hepatolenticular Degeneration Basic research Internal medicine medicine Humans Frameshift Mutation Cation Transport Proteins Allele frequency Adenosine Triphosphatases Neurologic Examination medicine.disease Dysphagia Wilson's disease Neurology Copper-Transporting ATPases Female Neurology (clinical) Geriatrics and Gerontology medicine.symptom Age of onset Brazil |
| Zdroj: | Parkinsonism & Related Disorders. 14:246-249 |
| ISSN: | 1353-8020 |
| DOI: | 10.1016/j.parkreldis.2007.08.002 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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