Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report
Sign Up to like & getrecommendations! Published in 2019 at "Iranian Journal of Medical Sciences"
DOI: 10.30476/ijms.2019.44983
Abstract: Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of… read more here.
Keywords: novel mutation; hereditary ataxia; report; gene ... 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