title: Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2.
abstract: Two siblings with ataxia with oculomotor apraxia type 2 (AOA2) exhibited electrophysiological findings suggestive of a sensorimotor neuronopathy, and primary ovarian failure was detected in one of them. Genetic analysis disclosed a novel, homozygous frameshift mutation in the senataxin gene, 2755_2756delGT, responsible for a premature stop codon at position 2760. It is suggested that a neuronopathy might cause the neuromuscular disturbance in AOA2, and that ovarian failure should be looked for in female patients with the disease.
authors.affiliation: Service of Neurology, Hospital Universitario Miguel Servet, Zaragoza, Spain. josegazulla@wanadoo.es
authors.forename: José
authors.initials: J
authors.lastname: Gazulla
authors.forename: Isabel
authors.initials: I
authors.lastname: Benavente
authors.forename: Isabel Pérez
authors.initials: IP
authors.lastname: López-Fraile
authors.forename: Pedro
authors.initials: P
authors.lastname: Modrego
authors.forename: Michel
authors.initials: M
authors.lastname: Koenig
mesh_terms: D000328:Adult; D004265:DNA Helicases; D004252:DNA Mutational Analysis; D004576:Electromyography / Q000379:methods; D005260:Female; D006801:Humans; D008297:Male; D064251:Multifunctional Enzymes; D009431:Neural Conduction / Q000502:physiology; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000235:genetics; D016649:Primary Ovarian Insufficiency / Q000150:complications* / Q000235:genetics; D020365:RNA Helicases / Q000235:genetics; D035781:Siblings; D020754:Spinocerebellar Ataxias / Q000150:complications* / Q000235:genetics*
chemical_list: D064251:Multifunctional Enzymes; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases