<unk>  <unk>  is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, oculomotor disorders, peripheral neuropathy, and ataxia of the gait, stance, and limbs due to cerebellar dysfunction. Unlike other types,<unk>  is not fatal. This cerebellar function is permanent and progressive, differentiating it from episodic ataxia type 2 (EA2) where said dysfunction is episodic. In some<unk>  families, some members show these classic signs of<unk>  while others show signs more similar to EA2, suggesting that there is some phenotypic overlap between the two disorders.<unk>  is caused by mutations in CACNA1A, a gene encoding a calcium channel α subunit. These mutations tend to be trinucleotide repeats of CAG, leading to the production of mutant proteins containing stretches of 20 or more consecutive glutamine residues; these proteins have an increased tendency to form intracellular agglomerations. Unlike many other polyglutamine expansion disorders expansion length is not a determining factor for the age that symptoms present.
Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type-13
Autosomal recessive cerebellar ataxia type 1
Metachromatic leukodystrophy
Stratton Parker syndrome
Friedreich's ataxia
Autosomal recessive spastic ataxia of Charlevoix-Saguenay