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

J Neurol Sci. 2003 Jun 15;210(1-2):91-3. doi: 10.1016/s0022-510x(03)00008-x.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetazolamide / therapeutic use
  • Adult
  • Amino Acid Sequence
  • Anticonvulsants / therapeutic use
  • Base Sequence
  • Calcium Channels / genetics*
  • Cerebellar Ataxia / drug therapy
  • Cerebellar Ataxia / genetics*
  • Exons
  • Family Health
  • Female
  • Frameshift Mutation*
  • Genetic Testing
  • Humans
  • Japan / epidemiology
  • Male
  • Molecular Sequence Data
  • Mutagenesis, Insertional*
  • Nystagmus, Pathologic / complications
  • Nystagmus, Pathologic / drug therapy
  • Pedigree
  • Polymerase Chain Reaction


  • Anticonvulsants
  • CACNA1A protein, human
  • Calcium Channels
  • Acetazolamide

Associated data

  • GENBANK/X99897