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Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

Cerebellum (London, England) - 1 Aug 2018

Schirinzi Tommaso, Graziola Federica, Nicita Francesco, Travaglini Lorena, Stregapede Fabrizia, Valeriani Massimiliano, Curatolo Paolo, Bertini Enrico, Vigevano Federico, Capuano Alessandro

Abstract excerpt

ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), together with many other intermediate phenotypes. Ataxia is always more increasingly reported, either as accessory or...

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PMID: 29397530
DOI: 10.1007/s12311-018-0920-y

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