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Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene
  1. T Takahashi,
  2. S Igarashi,
  3. T Kimura,
  4. I Hozumi,
  5. I Kawachi,
  6. O Onodera,
  7. H Takano,
  8. M Saito,
  9. S Tsuji
  1. Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Niigata 951-8585, Japan
  1. Correspondence to:
 Professor Tsuji;
 tsuji{at}cc.niigata-u.ac.jp

https://doi.org/10.1136/jnnp.72.5.676-a

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    Familial hemiplegic migraine (FHM) is an autosomal dominantly inherited disorder characterised by migraine attacks preceded by transient hemiparesis. In 1993, Joutel et al mapped the locus for FHM to chromosome 19p13 by linkage analysis,1 and the causative gene was subsequently identified as the CACNA1A gene, encoding a P/Q-type calcium channel α1A subunit. Cases involving the CACNA1A gene have been found in approximately 50% of FHM cases, and linkage to chromosome 1 has been shown in some of the other families.

    FHM with progressive cerebellar ataxia (FHM/PCA) has been described only in cases carrying CACNA1A mutations. Other clinical phenotypes associated with ataxia may also be caused by mutations in the CACNA1A gene, which include episodic ataxia type 2 (EA-2) and spinocerebellar ataxia type 6 (SCA6). EA-2 is characterised by recurrent episodes of attacks of cerebellar ataxia accompanied by interictal nystagmus. In SCA6, expansion of a CAG trinucleotide repeat coding for a polyglutamine stretch at the carboxyl terminus of the CACNA1A has been identified as the causative mutation.

    These data suggest that mutations in the CACNA1A …

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