<unk>  (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and<unk>  of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive. SCA13 is caused by mutations in KCNC3, a gene encoding a voltage-gated potassium channel KV3.3. There are two known mutations in this gene causative for SCA13. Unlike many other types of SCA, these are not polyglutamine expansions but, rather, point mutations resulting in channels with no current or altered kinetics.
Spinocerebellar ataxia type-13
Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 1
Autosomal recessive cerebellar ataxia type 1
Jokela type spinal muscular atrophy
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Friedreich's ataxia
Stratton Parker syndrome