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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Clinical findings in the more common types of SCA in the SA cohort * Clinical features SCA1 SCA2 SCA6 SCA7 Gait ataxia + + + + Limb ataxia + + + + Dysarthria + + + + Progressive disabling visual impairment + Maculopathy + Pigmentary retinopathy + Supranuclear ophthalmoplegia + + + Diplopia with inability to maintain ocular fixation + Reduced smooth pursuit eye movements + + Slow saccadic eye movements + + Brisk tendon reflexes/spasticity + + Sensory peripheral neuropathy + + Cognitive impairment (late) + + * SCA3 and SCA17 excluded owing to insufficient clinical data.
During his tenure in the California Legislature he was Chair of the Senate Transportation Committee and the author of SCA6 and SB1420, the legislative underpinnings of the high-speed rail vision.