Spinocerebellar Ataxia 6 (SCA6)

The genetic characterization of glutamine-encoding CAG repeat expansions as the molecular basis of spinocerebellar ataxia types 1-3 prompted the search for CAG repeat expansions in other neural genes that might be associated with cerebellar ataxia syndromes. Based on these studies, it is concluded that polymorphic CAG repeats in CACNAIA located on chromosome 19p. Dysarthria, dysphagia, vertigo, and hypophonia are common symptoms. Patients are encouraged to remain physically and mentally active. Although no medication has been shown to halt the progression of cerebellar degeneration in SCA6 in randomized clinical trials, some patients with episodic exacerbation have responded to acetazolamide. Most patients experience paresthesias in the extremities, while some complain of anorexia because of metallic/ abnormal taste with certain foods. These symptoms usually subside with time.