We report a 54-year-old woman, among the population of the Lombardia GENS project (http://www.clinicaltrial.gov), affected by migraine with aura and ataxia carrying the p.Arg583Gln missense substitution in the CACNA1A gene focusing, through a review literature, on the clinical phenotype of mutation carriers. The gene discussed is CACNA1A; the disease is cerebellar ataxia.