To our knowledge, this is the first report of brain SPECT in a patient with EA2 caused by a heterozygous point mutation in the CACNA1A gene, although a brain SPECT study has been reported for a patient with familial hemiplegic migraine 1 (FHM1, MIM: 141500) carrying a heterozygous point mutation in the CACNA1A gene8. Here, CACNA1A is linked to episodic ataxia type 2.