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

Wada, Takahito; Kobayashi, Norio; Takahashi, Yoshio; Aoki, Tomoko; Watanabe, Takako; Saitoh, Shinji

« Previous Next »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
- Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
Norio Kobayashi, MD
- Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
Yoshio Takahashi, MD
- Department of Neurosurgery,Hokkaido Children’s Health Medical Center, Otaru, Japan
Tomoko Aoki, MD
- Department of Neurology, Fukushima Medical College, Fukushima, Japan
Takako Watanabe, MD
- Department of Neurology, Fukushima Medical College, Fukushima, Japan
Shinji Saitoh, MD
- Communications 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.

Abstract

We report a Japanese family carrying a T666M missense mutation of CACNA1A. Affected members demonstrated a strikingly wide clinical spectrum including migraine, hemiplegia, coma, and progressive cerebellar ataxia. Despite such variability of the clinical features, they demonstrated similar magnetic resonance imaging findings demonstrating cerebellar atrophy predominantly of the cerebellar vermis. These magnetic resonance images appeared not to correlate with clinical severity. Our findings should indicate that a T666M mutation of CACNA1A may be associated with more variable clinical features and that paroxysmal hemiplegic migraine attacks and progressive cerebellar atrophy should have distinct mechanisms of pathogenesis.