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Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings

2021-11-10

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<title>Abstract</title> <p>Hereditary ataxias are a group of devastating neurological disorders that affect coordination of gait and are often associated with poor coordination of hands, speech, and eye movements. Ataxia with Ocular Apraxia type 1 (AOA1) (OMIM: 606350.0006) is characterized by slowly progressive symptoms of childhood-onset and pathogenic mutations in <italic>APTX;</italic> the only known cause un...

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Literature Corpus work: d47fd552-feb7-598e-80d7-7949790940e7
DOI: 10.21203/rs.3.rs-1026107/v1

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