title: Expanding the ataxia with oculomotor apraxia type 4 phenotype.
abstract: Ataxia with oculomotor apraxia type 4 (AOA4) is an autosomal recessive (AR) disorder recently delineated in a Portuguese cohort and caused by mutations in the PNKP (polynucleotide kinase 3'-phosphatase) gene.(1) AOA4 is a progressive, complex movement disorder that includes hyperkinetic features, eye movement abnormalities, polyneuropathy, varying degrees of cognitive impairment, and obesity. PNKP mutations were initially discovered to be the cause of the severe nonprogressive syndrome microcephaly, early-onset intractable seizures, and developmental delay (MCSZ).(2) Here we describe a patient with compound heterozygous PNKP mutations presenting with an AOA4 phenotype. New features that we report include both mutations, presence of chorea, absence of oculomotor apraxia (OMA), and slow disease progression.
authors.affiliation: Department of Neurology (M.P., P.S., R.P.) and Department of Genetics (H.M., A.N.), Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience (M.P., P.S., R.P.) and Department of Molecular Medicine and Surgery (H.M., A.N.), Karolinska Institutet, Stockholm, Sweden; and Institute of Cancer and Genomic Sciences (M.T., J.J.R.), University of Birmingham, Birmingham, United Kingdom.
authors.forename: Martin
authors.initials: M
authors.lastname: Paucar
authors.affiliation: Department of Neurology (M.P., P.S., R.P.) and Department of Genetics (H.M., A.N.), Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience (M.P., P.S., R.P.) and Department of Molecular Medicine and Surgery (H.M., A.N.), Karolinska Institutet, Stockholm, Sweden; and Institute of Cancer and Genomic Sciences (M.T., J.J.R.), University of Birmingham, Birmingham, United Kingdom.
authors.forename: Helena
authors.initials: H
authors.lastname: Malmgren
authors.affiliation: Department of Neurology (M.P., P.S., R.P.) and Department of Genetics (H.M., A.N.), Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience (M.P., P.S., R.P.) and Department of Molecular Medicine and Surgery (H.M., A.N.), Karolinska Institutet, Stockholm, Sweden; and Institute of Cancer and Genomic Sciences (M.T., J.J.R.), University of Birmingham, Birmingham, United Kingdom.
authors.forename: Malcolm
authors.initials: M
authors.lastname: Taylor
authors.affiliation: Department of Neurology (M.P., P.S., R.P.) and Department of Genetics (H.M., A.N.), Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience (M.P., P.S., R.P.) and Department of Molecular Medicine and Surgery (H.M., A.N.), Karolinska Institutet, Stockholm, Sweden; and Institute of Cancer and Genomic Sciences (M.T., J.J.R.), University of Birmingham, Birmingham, United Kingdom.
authors.forename: John J
authors.initials: JJ
authors.lastname: Reynolds
authors.affiliation: Department of Neurology (M.P., P.S., R.P.) and Department of Genetics (H.M., A.N.), Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience (M.P., P.S., R.P.) and Department of Molecular Medicine and Surgery (H.M., A.N.), Karolinska Institutet, Stockholm, Sweden; and Institute of Cancer and Genomic Sciences (M.T., J.J.R.), University of Birmingham, Birmingham, United Kingdom.
authors.forename: Per
authors.initials: P
authors.lastname: Svenningsson
authors.affiliation: Department of Neurology (M.P., P.S., R.P.) and Department of Genetics (H.M., A.N.), Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience (M.P., P.S., R.P.) and Department of Molecular Medicine and Surgery (H.M., A.N.), Karolinska Institutet, Stockholm, Sweden; and Institute of Cancer and Genomic Sciences (M.T., J.J.R.), University of Birmingham, Birmingham, United Kingdom.
authors.forename: Rayomand
authors.initials: R
authors.lastname: Press
authors.affiliation: Department of Neurology (M.P., P.S., R.P.) and Department of Genetics (H.M., A.N.), Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience (M.P., P.S., R.P.) and Department of Molecular Medicine and Surgery (H.M., A.N.), Karolinska Institutet, Stockholm, Sweden; and Institute of Cancer and Genomic Sciences (M.T., J.J.R.), University of Birmingham, Birmingham, United Kingdom.
authors.forename: Ann
authors.initials: A
authors.lastname: Nordgren