Spinocerebellar ataxia type 3
Spinocerebellar ataxia type 3 (SCA3) is the most commonly inherited autosomal dominant ataxia. It is mediated by an expanded triplicate nucleotide repeat that encodes for mutant ataxin-3 protein. Gait ataxia is the most common presenting symptom. SCA3 has a heterogeneous phenotype, including sensory or motor neuropathies, upper motor neuron signs, abnormalities in extraocular movements, dystonias, and parkinsonism.
Oct. 18, 2020