Ovarian failure in ataxia with oculomotor apraxia type 2.
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.
Lynch
David R
DR
Department of Neurology, University of Pennsylvania School of Medicine. lynch@pharm.med.upenn.edu
Braastad
Corey D
CD
Nagan
Narasimhan
N
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
D064251:Multifunctional Enzymes; D000509:alpha-Fetoproteins; D004247:DNA; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases