CACNA1A gene CAG repeats in blood/tissue

Clinical significance

• the poly-Gln region of CACNA1A is polymorphic: 6-17 repeats in the normal population; expanded to ~21-30 repeats in spinocerebellar ataxia type-6; repeat expansion also reported in episodic ataxia type 2

More general terms

• CACNA1A gene mutation
• trinucleotide repeat testing

Additional terms

• voltage-dependent Ca+2 channel alpha-1A (voltage-dependent Ca+2 channel-alpha 1 isoform 4, L type, CACNA1A, CACNL1A4, CACH4, CACN3)