Thelansis

  Spinocerebellar ataxias (SCAs) constitute a large, complex group of heterogeneous autosomal dominant degenerative diseases characterized by progressive degeneration of the cerebellum and its afferent and efferent connections. Other nervous system structures are usually affected, including the basal ganglia, brainstem nuclei, pyramidal tracts, and posterior column and anterior horn of the spinal cord, as well as the peripheral nerve. SCAs are clinically characterized by the presence of cerebellar gait and limb ataxia (with dysmetria, dysdiado chemokinesis, intention tremor, dysarthria, and nystagmus), which may be accompanied by extracerebellar signs such as ophthalmoplegia, pyramidal signs, movement disorders (including parkinsonism, dystonia, myoclonia, and chorea), dementia, epilepsy, visual disorders (including pigmentary retinopathy), lower motor neuron disease and peripheral neuropathy. SCAs are genotypically and phenotypically very heterogeneous. The presence of phenotypi...