Erschienen in:
01.02.2004 | Short Communication
Novel splice site CACNA1A mutation causing episodic ataxia type 2
verfasst von:
M. A. Kaunisto, H. Harno, M. Kallela, H. Somer, R. Sallinen, E. Hämäläinen, P.J. Miettinen, J. Vesa, A. Orpana, A. Palotie, M. Färkkilä, M. Wessman
Erschienen in:
Neurogenetics
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Ausgabe 1/2004
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Abstract.
Episodic ataxia type 2 (EA-2) is an autosomal dominant neurological disorder, characterized by episodes of ataxia, vertigo, nausea, nystagmus, and fatigue, associated with acetazolamide responsiveness. The disease is caused by mutations in the P/Q-type calcium channel Cav2.1 subunit gene, CACNA1A, located on chromosome 19p13.2. We analyzed a family with 13 affected individuals for linkage to this locus and reached a two-point maximum LOD score of 4.48. A novel CACNA1A mutation, IVS36–2A>G, at the 3′ acceptor splice site of intron 36 was identified by sequencing. It is the first described CACNA1A acceptor splice site mutation and the most C-terminal EA-2-causing mutation reported to date.