title: Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.
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.
authors: Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, PR 80060-150, Brazil.
authors: Walter O
authors: WO
authors: Arruda
authors: Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, PR 80060-150, Brazil.
authors: Renato P
authors: RP
authors: Munhoz
authors: Gastroenterology and Hepatology Service, Internal Medicine Department, Federal University of Paraná, Curitiba, Brazil.
authors: Ricardo S
authors: RS
authors: de Bem
authors: Department of Hepatology and Gastroenterology, University of São Paulo School of Medicine, São Paulo, Brazil.
authors: Marta M
authors: MM
authors: Deguti
authors: Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil.
authors: Egberto Reis
authors: ER
authors: Barbosa
authors: Department of Neurosciences, Alfred Hospital, Melbourne, VIC, Australia.
authors: Jorge A
authors: JA
authors: Zavala
authors: Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, PR 80060-150, Brazil. Electronic address: hagteive@mps.com.br.
authors: Hélio A G
authors: HA
authors: Teive
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics*; D002570:Ceruloplasmin / Q000172:deficiency* / Q000235:genetics; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000235:genetics; D006801:Humans; D019189:Iron Metabolism Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D001523:Mental Disorders / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D009154:Mutation; D020125:Mutation, Missense; D019636:Neurodegenerative Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
chemical_list: D027682:Cation Transport Proteins; D002570:Ceruloplasmin; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases
keywords: ATP7B; Hypoceruloplasminaemia; Wilson’s disease