C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.

Journal of Neurology
M DeschauerTobias B Haack

Abstract

Mutations in C19orf12 have been recently identified as the molecular genetic cause of a subtype of neurodegeneration with brain iron accumulation (NBIA). Given the mitochondrial localization of the gene product the new NBIA subtype was designated mitochondrial membrane protein-associated neurodegeneration. Frequent features in the patients described so far included extrapyramidal signs and pyramidal tract involvement. Here, we report three C19orf12-mutant patients from two families presenting with predominant upper and lower motor neuron dysfunction mimicking amyotrophic lateral sclerosis with juvenile onset. While extrapyramidal signs were absent, all patients showed neuropsychological abnormalities with disinhibited or impulsive behavior. Optic atrophy was present in the simplex case. T2-weighted cranial MRI showed hypointensities suggestive of iron accumulation in the globi pallidi and the midbrain in all patients. Sequence analysis of C19orf12 revealed a novel mutation, p.Gly66del, compound heterozygous with known mutations in all patients. These patients highlight that C19orf12 defects should be considered as a differential diagnosis in patients with juvenile onset motor neuron diseases. Patients have to be examined carefu...Continue Reading

References

Jul 24, 2001·Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases·B R BrooksUNKNOWN World Federation of Neurology Research Group on Motor Neuron Diseases
Jun 13, 2006·Biochimica Et Biophysica Acta·Paul A James, Kevin Talbot
Jul 11, 2008·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Maria StraussMarcus Deschauer
Nov 5, 2008·Journal of Medical Genetics·A GregoryS J Hayflick
Jul 14, 2009·Current Opinion in Neurology·Philip Van Damme, Wim Robberecht
Jul 26, 2011·Biochimica Et Biophysica Acta·Hyman M Schipper
Sep 17, 2011·AJNR. American Journal of Neuroradiology·M C KruerS J Hayflick

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Citations

Dec 6, 2012·Journal of Neural Transmission·Susanne A Schneider, Kailash P Bhatia
Oct 22, 2013·Current Neurology and Neuroscience Reports·Joshua M Doorn, Michael C Kruer
Dec 24, 2013·Gene·Michael C KruerFowzan Alkuraya
Nov 30, 2014·Neurologic Clinics·Petr DusekAnna Czlonkowska
Jan 8, 2016·Current Neurology and Neuroscience Reports·Susanne A Schneider
Mar 16, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Jennifer G GoldmanSusan J Hayflick
Jul 17, 2013·Human Mutation·Guida LandouréBarrington G Burnett
Nov 21, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Mitra Ansari DezfouliElahe Elahi
Oct 30, 2013·Neuropathology and Applied Neurobiology·M HadzhievaC Mawrin
Oct 16, 2015·Molecular Neurobiology·Giorgio BiasiottoIsabella Zanella
Apr 15, 2015·Neuropathology and Applied Neurobiology·Charles Edward ArberSelina Wray
Jan 13, 2015·Annals of Clinical and Translational Neurology·Ulrike LöbelJan Sedlacik
May 13, 2015·Parkinsonism & Related Disorders·Monica GagliardiAldo Quattrone
Jan 17, 2015·Journal of the Neurological Sciences·Anne TschentscherSabine Hoffjan
Feb 26, 2004·Drug Discovery Today·Peter C Waldmeier, William G Tatton
Mar 9, 2017·Cold Spring Harbor Perspectives in Medicine·Mehdi Ghasemi, Robert H Brown
Feb 18, 2018·European Journal of Human Genetics : EJHG·Ceren TuncaA Nazlı Başak
Jan 8, 2018·Journal of Neurology·Roula Ghaoui, Carolyn M Sue
Aug 11, 2017·Journal of Neurology, Neurosurgery, and Psychiatry·Alexander M RossorMary M Reilly
Jun 13, 2017·Database : the Journal of Biological Databases and Curation·Simon FishilevichDana Cohen
Sep 14, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Petr DusekSusanne A Schneider
Dec 24, 2019·Frontiers in Neuroscience·Rita MejziniP Anthony Akkari
Jul 6, 2019·Parkinsonism & Related Disorders·Nicki Niemann, Joseph Jankovic
Jan 12, 2021·Frontiers in Cell and Developmental Biology·Luca MignaniDario Finazzi

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