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Neurological manifestations and ATP7B mutations in Wilson's disease.

Parkinsonism & related disorders - 1 Jan 2008

Machado Alexandre Aluizio Costa, Deguti Marta Mitiko, Genschel Janine, Cançado Eduardo Luiz Rachid, Bochow Bettina, Schmidt Hartmut, Barbosa Egberto Reis

Abstract excerpt

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...

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Identifiers

PMID: 17897870
DOI: 10.1016/j.parkreldis.2007.08.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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