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
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
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
Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2.
Sign Up to like & getrecommendations! Published in 2019 at "Reproductive biomedicine online"
DOI: 10.1016/j.rbmo.2018.12.042
Abstract: Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive neurodegenerative disorder characterized by cerebellar atrophy, peripheral neuropathy and oculomotor apraxia. It is caused by mutations in the SETX gene that encodes senataxin,… read more here.
Keywords: oculomotor apraxia; germ cell;
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
Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.1019974
Abstract: Objectives Autosomal recessive inherited ataxia with oculomotor apraxia type 2 (AOA2), caused by SETX gene mutations, is characterized by early-onset, progressive cerebellar ataxia, peripheral neuropathy, oculomotor apraxia and elevated serum α-fetoprotein (AFP). This study aimed… read more here.
Keywords: setx gene; oculomotor apraxia; gene; novel homozygous ... See more keywords