title: Ovarian failure in ataxia with oculomotor apraxia type 2.
abstract: Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder associated with mutations in the Senataxin (SETX) gene. Clinical manifestations (ataxia, peripheral neuropathy, oculomotor apraxia) of this disease have previously been limited to the nervous system. We describe a patient homozygous for a novel mutation of SETX who manifested not only ataxia but also ovarian failure.
authors.affiliation: Department of Neurology, University of Pennsylvania School of Medicine. lynch@pharm.med.upenn.edu
authors.forename: David R
authors.initials: DR
authors.lastname: Lynch
authors.forename: Corey D
authors.initials: CD
authors.lastname: Braastad
authors.forename: Narasimhan
authors.initials: N
authors.lastname: Nagan
mesh_terms: D000328:Adult; D020240:Apraxia, Ideomotor / Q000150:complications / Q000235:genetics*; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D004265:DNA Helicases; D005260:Female; D006720:Homozygote; D006801:Humans; D064251:Multifunctional Enzymes; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D020365:RNA Helicases / Q000235:genetics*; D011859:Radiography; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: D064251:Multifunctional Enzymes; D000509:alpha-Fetoproteins; D004247:DNA; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases