title: [Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic].
abstract: AOA are autosomal recessive ataxias with a common feature of oculomotor apraxia (OA) - inability to coordinate eye movements. The group includes AOA1 (APTX gene), relatively common AOA2 (SETX gene) and AOA3 (PIK 3R5 gene) described in 2012 in a Saudi family. OA is typical also for Louis-Bar ataxia-telangiectasia and its variants. А first Russian AOA2 case confirmed by DNA test is presented. The disease in a 25-year-old male started in 18 years, in 23 years he lost independent walking due to incoordination and weakness. OA produced few symptoms and was not recorded previously. Sensorimotor axonal polyneuropathy was confirmed by EMG. MRI showed cerebellar atrophy. Alpha-fetoprotein level was tenfold raised. A hereditary ataxia was considered from the disease onset, and a number of genetic tests were performed, but AOA2 was recognized only seven years later. On direct sequencing of SETX exons 6-8 a novel frame-shift mutation с.2623-2626 del 4 in heterozygous state was detected which is sufficient for AOA2 confirmation; the allelic mutation is in search. Recently a first Russian AOA1 case in a 15-year-old girl was also confirmed in our laboratory: compound-heterozygosity for two novel APTX mutations was detected. Evidently AOA are underestimated in clinical diagnostics while DNA testing permits genetic prophylaxis in families. OA should be purposefully searched for in children and young adults suspicious of autosomal recessive ataxias.
authors.forename: G E
authors.initials: GE
authors.lastname: Rudenskaia
authors.forename: M V
authors.initials: MV
authors.lastname: Kurkina
authors.forename: E Iu
authors.initials: EIu
authors.lastname: Zakharova
mesh_terms: D000293:Adolescent; D000328:Adult; D001072:Apraxias / Q000175:diagnosis* / Q000235:genetics*; D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000151:congenital; D004247:DNA / Q000235:genetics; D004265:DNA Helicases; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D034141:Hypoalbuminemia / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D064251:Multifunctional Enzymes; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D020365:RNA Helicases / Q000235:genetics*
chemical_list: C438188:APTX protein, human; D004268:DNA-Binding Proteins; D064251:Multifunctional Enzymes; D009687:Nuclear Proteins; D004247:DNA; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases