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- Title
Novel splice site CACNA1A mutation causing episodic ataxia type 2.
- Authors
Kaunisto, M. A.; Harno, H.; Kallela, M.; Somer, H.; Sallinen, R.; Hämäläinen, E.; Miettinen, P. J.; Vesa, J.; Orpana, A.; Palotie, A.; Färkkilä, M.; Wessman, M.
- 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 30 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.
- Subjects
GENETICS; NEUROLOGICAL disorders; ATAXIA; CALCIUM channels; CHROMOSOMES; GENETIC mutation
- Publication
Neurogenetics, 2004, Vol 5, Issue 1, p69
- ISSN
1364-6745
- Publication type
Article
- DOI
10.1007/s10048-003-0161-0