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Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.

Abstract：

:Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1). SCA6 and EA2 share a number of clinical features, such as prominent cerebellar involvement and good response to acetazolamide therapy. However, while SCA6 develops as a late-onset, progressive ataxia, EA2 has an earlier, and episodic, onset. We report on two sisters with a heterogeneous clinical phenotype. The first developed progressive cerebellar ataxia after age 30, without noticeable episodes of vertigo or headache. A 1 year trial with acetazolamide did not produce significant results. The other reported episodes of vertigo, headache and gait imbalance since late childhood, with good response to acetazolamide, before developing moderate chronic cerebellar ataxia. Brain MRI showed cerebellar atrophy, especially in the vermis, in both patients. Direct sequencing of CACNA1A identified a heterozygous 1360G>A mutation in exon 11 resulting in the substitution of alanine for threonine at residue 454 (p.Ala454Thr). This is the first description of a change residing in the cytoplasmic I-II loop associated with a clinical phenotype.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Cricchi F,Di Lorenzo C,Grieco GS,Rengo C,Cardinale A,Racaniello M,Santorelli FM,Nappi G,Pierelli F,Casali C

doi

10.1016/j.jns.2007.01.008

subject

Has Abstract

pub_date

2007-03-15 00:00:00

pages

69-71

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(07)00034-2

journal_volume

254

pub_type

杂志文章

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