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Novel splice site CACNA1A mutation causing episodic ataxia type 2

Authors :
Päivi J. Miettinen
R Sallinen
Hanna Harno
Hannu Somer
Markus Färkkilä
Eija Hämäläinen
Mari A. Kaunisto
J. Vesa
Arto Orpana
M. Wessman
Mikko Kallela
Aarno Palotie
Source :
neurogenetics. 5:69-73
Publication Year :
2004
Publisher :
Springer Science and Business Media LLC, 2004.

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 Ca(v)2.1 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, IVS36-2AG, 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.

Details

ISSN :
13646753 and 13646745
Volume :
5
Database :
OpenAIRE
Journal :
neurogenetics
Accession number :
edsair.doi.dedup.....ef620be71a56c50b9bf767ac04b94211