Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia
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DOI: 10.1002/mds.29015
Abstract: Ataxia with oculomotor apraxia (AOA) is characterized by early‐onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may present pathogenic variants in APTX, SETX, PIK3R5, and PNKP genes, respectively. Mutations in… read more here.
Keywords: oculomotor; characterization brazilian; ataxia oculomotor; genetic characterization ... See more keywords