General Child Neurology
Autosomal dominant hereditary ataxias
The autosomal dominant hereditary ataxia syndromes consist of more than 40 known spinocerebellar ataxia syndromes, dentatorubral-pallidoluysian atrophy, and 8 episodic ataxia syndromes. They have a range of phenotypes that can be categorized as ataxia plus nonataxia symptoms, ataxia with vision loss, and almost purely isolated cerebellar ataxia. Their cardinal clinical feature is progressive incoordination of movement, either in the presence or absence of other neurologic signs.
Apr. 05, 2021