Ataxia with Oculomotor Apraxia Type 1—New Mutation, Characteristic Phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12725
Abstract: A 22-year-old man is the third of four siblings from a family with a high degree of consanguinity. At 18 months, he was first noted to be unsteady and subsequently developed a slurred speech. His… read more here.
Keywords: head; apraxia type; ataxia oculomotor; oculomotor apraxia ... See more keywords
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
Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurogenetics"
DOI: 10.1080/01677063.2017.1322079
Abstract: Abstract The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes. We… read more here.
Keywords: oculomotor apraxia; novel pnkp; ataxia oculomotor; pnkp mutation ... See more keywords
Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia
Sign Up to like & getrecommendations! Published in 2017 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a002014
Abstract: Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination. Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic… read more here.
Keywords: oculomotor apraxia; aptx gene; ataxia oculomotor; mutation aptx ... See more keywords