title: Phenotypic convergence of Menkes and Wilson disease.
abstract: Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporterATP7A. OtherATP7Amutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy.1,2About 5%-10% of the patients present with "atypical Menkes disease" characterized by longer survival, cerebellar ataxia, and developmental delay.2The intracellular copper transport is regulated by 2 P type ATPase copper transporters ATP7A and ATP7B. These proteins are expressed in the trans-Golgi network that guides copper to intracellular compartments, and in copper excess, it relocates copper to the plasma membrane to pump it out from the cells.3ATP7Bmutations cause Wilson disease with dystonia, ataxia, tremor, and abnormal copper accumulation in the brain, liver, and other organs.4.
authors.affiliation: John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.
authors.forename: Boglarka
authors.initials: B
authors.lastname: Bansagi
authors.affiliation: John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.
authors.forename: David
authors.initials: D
authors.lastname: Lewis-Smith
authors.affiliation: John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.
authors.forename: Endre
authors.initials: E
authors.lastname: Pal
authors.affiliation: John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Duff
authors.affiliation: John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Griffin
authors.affiliation: John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.
authors.forename: Angela
authors.initials: A
authors.lastname: Pyle
authors.affiliation: John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.
authors.forename: Juliane S
authors.initials: JS
authors.lastname: Müller
authors.affiliation: John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.
authors.forename: Gabor
authors.initials: G
authors.lastname: Rudas
authors.affiliation: John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Aranyi
authors.affiliation: John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
authors.affiliation: John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
authors.affiliation: John Walton Muscular Dystrophy Research Centre (B.B., D.L.-S., J.D., H.G., A.P., J.S.M., H.L., R.H.), and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine Institute of Genetic Medicine, Newcastle University, UK; Department of Neurology (E.P.), University of Pecs, Hungary; MRI Research Centre (G.R.), and MTA-SE NAP B Peripheral Nervous System Research Group (Z.A.), Department of Neurology, Semmelweis University, Budapest, Hungary; MRC-Mitochondrial Biology Unit (P.F.C.), and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.
authors.forename: Rita
authors.initials: R
authors.lastname: Horvath