Referenced in: none

Automatically associated channels: Cav2.1

Title: A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family.

Authors: Zenjiro Matsuyama, Masahiko Murase, Hirotaka Shimizu, Yoko Aoki, Misato Hayashi, Isao Hozumi, Takashi Inuzuka

Journal, date & volume: J. Neurol. Sci., 2003 Jun 15 , 210, 91-3

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/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.