A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family.
J Neurol Sci
; 210(1-2): 91-3, 2003 Jun 15.
Article
em En
| MEDLINE
| ID: mdl-12736095
ABSTRACT
We report a Japanese family with acetazolamide-responsive episodic ataxia. The proband was a 41-year-old woman with interictal nystagmus. She experienced recurrent attacks of loss of equilibrium and loss of coordination of the extremities accompanied by dysarthria and nausea beginning at about 10 years old. These episodes usually lasted for several hours two or three times a week. Direct sequence of CACNA1A demonstrated a novel insertion mutation in the patient and her father. This mutation is estimated to cause early stop of the gene transcription, producing a truncated protein. This is the first report of episodic ataxia type 2 of which the mutation was identified in a Japanese family.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Canais de Cálcio
/
Ataxia Cerebelar
/
Mutação da Fase de Leitura
/
Mutagênese Insercional
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Neurol Sci
Ano de publicação:
2003
Tipo de documento:
Article
País de afiliação:
Japão