Epidemiology |
Approximately 1–9 in 100,000 people |
Approximately 2–6 in 100,000 people |
Pathology |
Purkinje cells and/or spinocerebellar tract involvement combined with atrophy of brainstem or other regions of the nervous system |
Pyramidal tract degeneration accompanied by posterior cordonal tract impairment |
Etiological Mechanism |
Neuronal loss in the cerebellum |
Distal axonal degeneration of the longest tract within the central nervous system |
Mode of Inheritance |
Mostly inherited through autosomal dominant and recessive transmission but all the known inheritance patterns are observed |
Mostly inherited through autosomal dominant and recessive transmission but all the known inheritance patterns are observed |
Clinical Features |
Cerebellar syndrome with progressive gait and limb ataxia, loss of coordination, nystagmus and other oculomotor control signs, and dysarthria |
Pyramidal signs with pyramidal weakness in the lower limbs, spasticity, hyperreflexia, and bilateral upgoing toes |
Radiological Characteristics |
Atrophy of the cerebellum is a relatively constant finding. Extracerebellar regions are also affected depending on the specific type of ataxia |
Non-specific and variable findings, which include corpus callosum atrophy, increased T2 signal intensity in the posterior limb of the internal capsule, spinal cord atrophy, and ears of the lynx sign (high T2/FLAIR signal intensity at the tip of the frontal horns of the lateral ventricles) |