Wilson's disease with cognitive impairment and without extrapyramidal signs: improvement of neuropsychological performance and reduction of MRI abnormalities with trientine treatment

• Published in: Neurocase Vol. 22; no. 1; pp. 40 - 44
• Main Authors: Chung, Eun Joo, Kim, Eung Gyu, Kim, Sang Jin, Ji, Ki-Hwan, Seo, Jung Hwa
• Format: Journal Article
• Language: English
• Published: England 02-01-2016
• Subjects: Brain - drug effects; Brain - pathology; Chelating Agents - pharmacology; Chelating Agents - therapeutic use; Cognition Disorders - complications; Cognition Disorders - drug therapy; Cognition Disorders - pathology; Female; Hepatolenticular Degeneration - complications; Hepatolenticular Degeneration - drug therapy; Hepatolenticular Degeneration - pathology; Humans; Magnetic Resonance Imaging; Middle Aged; Neuropsychological Tests; Treatment Outcome; Trientine - pharmacology; Trientine - therapeutic use; neurologic form; Wilson’s disease; magnetic resonance imaging; cognitive impairment; neuropsychological test
• ISSN: 1355-4794; 1465-3656
• DOI: 10.1080/13554794.2015.1032977

Extrapyramidal signs are neurological dysfunction commonly associated with Wilson's disease (WD). In addition, cognitive dysfunction has been reported in the early stages of WD. In this report, we describe a 49-year-old woman presenting with memory impairments and without Parkinsonian or extrapyramidal signs. She was diagnosed with WD based on the presence of Kayser-Fleischer rings around the irises of her eyes and two ATP7B gene mutations, R778L at exon 8 and A874V at exdyon 11. Serial magnetic resonance imaging analysis and neuropsychological tests showed improvements following treatment with trientine.