title: PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.
abstract: We identified PNKP mutations in a Norwegian woman with AOA. This patient had the typical findings with cognitive dysfunction, peripheral neuropathy, cerebellar dysarthria, horizontal nystagmus, oculomotor apraxia, and severe truncal and appendicular ataxia. In addition, she had hypoalbuminemia and massive lower limb edema which showed some improvement with treatment. Exome sequencing identified two heterozygous mutations, one in exon 14 (c.1196T>C, p.Leu399Pro) and one in exon 16 (c.1393_1396del, p.Glu465*). This is the first non-Portuguese patient with AOA due to PNKP mutations and provides independent verification that PNKP mutations cause AOA.
authors.affiliation: Department of Neurology, Haukeland University Hospital, 5021, Bergen, Norway.|Department of Clinical Medicine, University of Bergen, Bergen, Norway.
authors.forename: C
authors.initials: C
authors.lastname: Tzoulis
authors.affiliation: K.G. Jebsen Centre for Neuropsychiatric Disorders, Department of Clinical Science, University of Bergen, Bergen, Norway.|Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.|Computational Biology Unit, Department of Informatics, University of Bergen, Bergen, Norway.
authors.forename: Paweł
authors.initials: P
authors.lastname: Sztromwasser
authors.affiliation: K.G. Jebsen Centre for Neuropsychiatric Disorders, Department of Clinical Science, University of Bergen, Bergen, Norway.|Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
authors.forename: Stefan
authors.initials: S
authors.lastname: Johansson
authors.affiliation: Department of Neurology, Haukeland University Hospital, 5021, Bergen, Norway.
authors.forename: Ivar Otto
authors.initials: IO
authors.lastname: Gjerde
authors.affiliation: K.G. Jebsen Centre for Neuropsychiatric Disorders, Department of Clinical Science, University of Bergen, Bergen, Norway.|Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
authors.forename: Per
authors.initials: P
authors.lastname: Knappskog
authors.affiliation: Department of Neurology, Haukeland University Hospital, 5021, Bergen, Norway. laurence.bindoff@nevro.uib.no.|Department of Clinical Medicine, University of Bergen, Bergen, Norway. laurence.bindoff@nevro.uib.no.
authors.forename: L A
authors.initials: LA
authors.lastname: Bindoff
mesh_terms: D001072:Apraxias / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D001259:Ataxia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D055952:Cogan Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D045643:DNA Repair Enzymes / Q000235:genetics*; D004487:Edema / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007866:Leg / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D009664:Norway; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C530380:PNKP protein, human; D017853:Phosphotransferases (Alcohol Group Acceptor); D045643:DNA Repair Enzymes
keywords: AOA4; Ataxia; Edema; Hypoalbuminemia; Oculomotor apraxia