Pediatric Neurology
Volume 26, Issue 1 , Pages 47-50 , January 2002

Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia

  • Takahito Wada, MD

      Affiliations

    • Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
    • ,
  • Norio Kobayashi, MD

      Affiliations

    • Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
    • ,
  • Yoshio Takahashi, MD

      Affiliations

    • Department of Neurosurgery,Hokkaido Children’s Health Medical Center, Otaru, Japan
    • ,
  • Tomoko Aoki, MD

      Affiliations

    • Department of Neurology, Fukushima Medical College, Fukushima, Japan
    • ,
  • Takako Watanabe, MD

      Affiliations

    • Department of Neurology, Fukushima Medical College, Fukushima, Japan
    • ,
  • Shinji Saitoh, MD

      Affiliations

    • Corresponding Author InformationCommunications should be addressed to: Dr. Saitoh; Department of Pediatrics; Hokkaido University School of Medicine; N-15, W-7; Kita-ku; Sapporo 060-8638, Japan
    • Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan

Received 7 May 2001 ,Accepted 10 August 2001.

References 

  1. Ophoff RA, Terwindt GM, Vergouwe MN, et al.  Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996;87:543–552
  2. Zhuchenko O, Bailey J, Bonnen P, et al.  Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α 1A-voltage-dependent calcium channel. Nat Genet. 1997;15:62–69
  3. Ducros A, Denier C, Joutel A, et al.  Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. Am J Hum Genet. 1999;64:89–98
  4. Ducros A, Denier C, Joutel A, et al.  The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med. 2001;345:17–24
  5. Jodice C, Mantuano E, Veneziano L, et al.  Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet. 1997;6:1973–1978
  6. Yue Q, Jen JC, Nelson SF, Baloh RW. Progressive ataxia due to a missense mutation in a calcium-channel gene. Am J Hum Genet. 1997;61:1078–1087
  7. Jen J, Yue Q, Nelson SF, et al.  A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. Neurology. 1999;53:34–37
  8. Battistini S, Stenirri S, Piatti M, et al.  A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. Neurology. 1999;53:38–43
  9. Friend KL, Crimmins D, Phan TG, et al.  Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. Hum Genet. 1999;105:261–265
  10. Carrera P, Piatti M, Stenirri S, et al.  Genetic heterogeneity in Italian families with familial hemiplegic migraine. Neurology. 1999;53:26–33
  11. Yue Q, Jen JC, Thwe MM, Nelson SF, Baloh RW. De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia. Am J Med Genet. 1998;77:298–301
  12. Denier C, Ducros A, Vahedi K, et al.  High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology. 1999;52:1816–1821
  13. Vahedi K, Denier C, Ducros A, et al.  CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy. Neurology. 2000;55:1040–1042
  14. Scoggan KA, Chandra T, Nelson R, Hahn AF, Bulman DE. Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2. J Med Genet. 2001;38:249–253
  15. Denier C, Ducros A, Durr A, Eymard B, Chassande B, Tournier-Lasserve E. Missense CACNA1A mutation causing episodic ataxia type 2. Arch Neurol. 2001;58:292–295

PII: S0887-8994(01)00371-X

Pediatric Neurology
Volume 26, Issue 1 , Pages 47-50 , January 2002

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