CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy.
Familial hemiplegic migraine is caused by CACNA1A missense mutations in 50% of families, including all families with cerebellar ataxia. A patient with healthy parents, who experienced prolonged attacks of migraine with hemiplegia, coma, and seizures, is reported. The patient also had mental retardation, permanent cerebellar ataxia with cerebellar atrophy, and right-sided brain atrophy. This patient carried a de novo Tyr 1385 Cys mutation in the CACNA1A gene and illustrates a novel phenotype associated with CACNA1A mutations.
Vahedi
K
K
Service de Neurologie, Hôpital Lariboisière, Paris, France. vahedi@ccr.jussieu.fr
Denier
C
C
Ducros
A
A
Bousson
V
V
Levy
C
C
Chabriat
H
H
Haguenau
M
M
Tournier-Lasserve
E
E
Bousser
M G
MG
D000328:Adult; D001921:Brain / Q000473:pathology; D015220:Calcium Channels / Q000235:genetics*; D002526:Cerebellar Diseases / Q000209:etiology*; D003128:Coma / Q000209:etiology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D020325:Migraine with Aura / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type