Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.
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Cuenca-Leon E, Banchs I, Serra SA, Latorre P, Fernandez-Castillo N, Corominas R, Valverde MA, Volpini V, Fernandez-Fernandez JM, Macaya A, Cormand B
Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.
J Neurol Sci. 2009 May 15;280(1-2):10-4. doi: 10.1016/j.jns.2009.01.005. Epub 2009 Feb 20.
- PubMed ID
- 19232643 [ View in PubMed]
- Abstract
We report a patient with typical features of episodic ataxia type 2 (EA2) but with onset in the sixth decade and associated interictal hand dystonia. He was found to bear the novel heterozygous missense mutation p.Gly638Asp (c.1913G>A) in the CACNA1A gene. Functional analysis of the mutation on P/Q channels expressed in HEK 293 cells revealed a reduction of Ca(2+) current densities, a left-shift in the apparent reversal potential, the slowing of inactivation kinetics and the increase in the rate of current recovery from inactivation. These results are consistent with a decrease in Ca(2+) permeability through mutant P/Q channels. To our knowledge, this is just the second patient with late onset EA2 linked to a CACNA1A mutation and the first to carry a loss-of-function missense mutation.