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What a Headache!

Arch Neurol. 2001;58:179-180.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

EPISODIC ATAXIA type 2 (EA2) is a rare, usually dominantly inherited neurologic disorder characterized by episodes of vertigo and imbalance with interictal eye movement abnormalities; it can be dramatically responsive to acetazolamide.¹ The disease loci in several large families with EA2 were mapped to the short arm of chromosome 19,² where familial hemiplegic migraine (FHM), another unusual episodic neurologic disorder, had been mapped.³ Indeed, EA2 and FHM turned out to be allelic disorders, resulting from different mutations in the same gene, CACNA1A, a calcium channel subunit–encoding gene located on 19p.⁴

Early reports focused on clinical differences among EA2, FHM, and SCA6 (spinocerebellar ataxia type 6, a dominant cerebellar degenerative disorder caused by CAG repeat expansions in CACNA1A).⁵ Yet overlapping clinical features in patients with distinct mutations in CACNA1A suggest that EA2, FHM, and SCA6 represent a clinical continuum. Furthermore, although early data revealed predominantly missense mutations causing FHM . . . [Full Text of this Article]

RELATED ARTICLE

Missense CACNA1A Mutation Causing Episodic Ataxia Type 2
Christian Denier, Anne Ducros, Alexandra Durr, Bruno Eymard, Bénédicte Chassande, and Elisabeth Tournier-Lasserve
Arch Neurol. 2001;58(2):292-295.
ABSTRACT | FULL TEXT