Referenced in: none

Automatically associated channels: Cav2.1

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

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

Journal, date & volume: Pediatr. Neurol., 2002 Jan , 26, 47-50

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/11814735

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.