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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… Click to show full 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 XRCC1 have been found to cause autosomal recessive spinocerebellar ataxia‐26 (SCAR26) now considered AOA5.
Keywords:
oculomotor;
characterization brazilian;
ataxia oculomotor;
genetic characterization;
clinical genetic;
oculomotor apraxia
Journal Title: Movement Disorders
Year Published: 2022
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Journal Title: Movement Disorders
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!