title: Wilson's disease with cognitive impairment and without extrapyramidal signs: improvement of neuropsychological performance and reduction of MRI abnormalities with trientine treatment.
abstract: 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.
authors.affiliation: a Department of Neurology, Busan Paik Hospital , Inje University College of Medicine , Busan , South Korea.
authors.forename: Eun Joo
authors.initials: EJ
authors.lastname: Chung
authors.affiliation: a Department of Neurology, Busan Paik Hospital , Inje University College of Medicine , Busan , South Korea.
authors.forename: Eung Gyu
authors.initials: EG
authors.lastname: Kim
authors.affiliation: a Department of Neurology, Busan Paik Hospital , Inje University College of Medicine , Busan , South Korea.
authors.forename: Sang Jin
authors.initials: SJ
authors.lastname: Kim
authors.affiliation: a Department of Neurology, Busan Paik Hospital , Inje University College of Medicine , Busan , South Korea.
authors.forename: Ki-Hwan
authors.initials: KH
authors.lastname: Ji
authors.affiliation: a Department of Neurology, Busan Paik Hospital , Inje University College of Medicine , Busan , South Korea.
authors.forename: Jung Hwa
authors.initials: JH
authors.lastname: Seo
mesh_terms: D001921:Brain / Q000187:drug effects* / Q000473:pathology; D002614:Chelating Agents / Q000494:pharmacology / Q000627:therapeutic use*; D003072:Cognition Disorders / Q000150:complications / Q000188:drug therapy* / Q000473:pathology; D005260:Female; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000188:drug therapy* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009483:Neuropsychological Tests; D016896:Treatment Outcome; D014266:Trientine / Q000494:pharmacology / Q000627:therapeutic use*
chemical_list: D002614:Chelating Agents; D014266:Trientine
keywords: Wilson’s disease; cognitive impairment; magnetic resonance imaging; neurologic form; neuropsychological test