Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.
J Clin Neurosci
; 21(2): 335-6, 2014 Feb.
Article
en En
| MEDLINE
| ID: mdl-23962630
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+4AâT). 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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Ceruloplasmina
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Adenosina Trifosfatasas
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Trastornos del Metabolismo del Hierro
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Enfermedades Neurodegenerativas
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Proteínas de Transporte de Catión
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Mutación
Tipo de estudio:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Adult
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Humans
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Male
Idioma:
En
Año:
2014
Tipo del documento:
Article