CACNA1A

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CACNA1A

A gene on chromosome 19p13 that encodes the alpha-1A subunit of a voltage-dependent P/Q-type calcium channel, which mediates the entry of calcium ions into excitable cells. These channels are also involved in various calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and apoptosis.

Molecular pathology
CACNA1A mutations are associated with familial hemiplegic migraine and episodic ataxia 2.
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References in periodicals archive ?
7% of our FA cases, respectively while cerebellar atrophy was diagnosed in the two SCA6 cases but spinal atrophy was not observed.
Considering not only FA cases described above, but also SCA1, SCA2, SCA3, and SCA6 cases studied together with laboratory tests, though there are exceptional examples, it was noted that the most commonly seen SCA type globally was SCA3 (39,40,41).
SCA6 is correlated with a mutation in the voltage-dependent calcium channel P/Q type, alpha 1a subunit on the 19p13 chromosome (CACNA1A; CaV2.
sup][1] Genetic testing demonstrated that the trinucleotide repeat sequences of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA8, SCAl2, SCAl7 and DRPLA were normal.
In our study, the genetic testing of Family J, which presented clinically diagnosed SCA, was not in agreement with the known subtypes of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA8, SCA12, SCA17 and DRPLA.