Please use this identifier to cite or link to this item:
https://observatorio.fm.usp.br/handle/OPI/5540
Title: | Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease |
Authors: | ARRUDA, Walter O.; MUNHOZ, Renato P.; BEM, Ricardo S. de; DEGUTI, Marta M.; BARBOSA, Egberto Reis; ZAVALA, Jorge A.; TEIVE, Helio A. G. |
Citation: | JOURNAL OF CLINICAL NEUROSCIENCE, v.21, n.2, p.335-336, 2014 |
Abstract: | The authors report a 44-year-old man with a history of attention deficit and hyperactivity disorder, obsessive compulsive behaviour, vocal tics, depression, and anxiety, in whom a compound heterozygous ATP7B mutation was found, associated with hypoceruloplasminemia, but without clinical or pathological manifestation of Wilson's disease (WD). Genetic testing revealed a compound heterozygous ATP7B mutation already described in WD, p.Met645Arg (C1934TG/c.51 + 4A -> T). Hypoceruloplasminaemia was detected but no clinical manifestations (hepatic or central nervous system) of WD were present. The authors conclude that patients can carry a heterozygous mutation of the ATP7B gene that is associated with hypoceruloplasminaemia and display no overt clinical hepatic and/or central nervous system manifestations of WD. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - LIM/45 |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
art_BARBOSA_Pathogenic_compound_heterozygous_ATP7B_mutations_with_hypoceruloplasminaemia_without_2014.PDF Restricted Access | publishedVersion (English) | 90.46 kB | Adobe PDF | View/Open Request a copy |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.