Paroxysmal exercise-induced dystonia within the phenotypic spectrum ofECHS1deficiency

Movement Disorders - Tập 31 Số 7 - Trang 1041-1048 - 2016
Simone Olgiati1,2, Matěj Škorvánek3,4,2, Marialuisa Quadri1, Michelle Minneboo1, Josja Graafland1, Guido J. Breedveld1, Ramon Bonte1, Zeliha Özgür5, Mirjam C. G. N. van den Hout5, Kees Schoonderwoerd1, Frans W. Verheijen1, Wilfred F. J. van IJcken5, Hsin Fen Chien6, Egberto Reis Barbosa6, Hsiu‐Chen Chang7, Shen‐Hao Lai7, Tu‐Hsueh Yeh7, Chin-Song Lu7, Yah‐Huei Wu‐Chou8, Anneke J.A. Kievit1, Vladimír Haň3,4, Zuzana Gdovinová3,4, Robert Jech9, Robert M.W. Hofstra1, George J. G. Ruijter1, Wim Mandemakers1, Vincenzo Bonifati1
1Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
2Simone Olgiati and Matej Skorvanek contributed equally to this work as first authors.
3Department of Neurology, Safarik University, Kosice, Slovakia
4Department of Neurology, University Hospital L. Pasteur, Kosice, Slovakia
5Center for Biomics, Erasmus MC, Rotterdam, The Netherlands
6Department of Neurology, University of São Paulo, São Paulo, Brazil
7Neuroscience Research Center, Division of Movement Disorders, Department of Neurology, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan
8Human Molecular Genetics Laboratory, Department of Medical Research, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan
9Department of Neurology, Charles University in Prague, First Faculty of Medicine, Prague, Czech Republic

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Bhatia, 2011, Paroxysmal dyskinesias, Mov Disord, 26, 1157, 10.1002/mds.23765

Weber, 2008, GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak, J Clin Invest, 118, 2157, 10.1172/JCI34438

Suls, 2008, Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1, Brain, 131, 1831, 10.1093/brain/awn113

Liu, 2012, Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression, J Med Genet, 49, 79, 10.1136/jmedgenet-2011-100653

Wang, 2013, Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation, Brain Dev, 35, 664, 10.1016/j.braindev.2012.07.018

Vliet, 2012, PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions, Neurology, 79, 777, 10.1212/WNL.0b013e3182661fe3

Bruno, 2007, Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia, Neurology, 68, 1782, 10.1212/01.wnl.0000262029.91552.e0

Szczaluba, 2009, A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues, Pediatr Neurol, 41, 135, 10.1016/j.pediatrneurol.2009.02.013

Yeh, 2012, Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family, J Neurol Sci, 323, 80, 10.1016/j.jns.2012.08.015

Erro, 2014, Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification, Mov Disord, 29, 1108, 10.1002/mds.25933

Gardiner, 2015, The clinical and genetic heterogeneity of paroxysmal dyskinesias, Brain, 138, 3567, 10.1093/brain/awv310

Erro, 2014, The clinical syndrome of paroxysmal exercise-induced dystonia: diagnostic outcomes and an algorithm, Mov Disord Clin Pract, 1, 57, 10.1002/mdc3.12007

Schneider, 2009, GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias, Mov Disord, 24, 1684, 10.1002/mds.22507

Peters, 2014, ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism, Brain, 137, 2903, 10.1093/brain/awu216

Sakai, 2015, ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome, Hum Mutat, 36, 232, 10.1002/humu.22730

Haack, 2015, Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement, Ann Clin Transl Neurol, 2, 492, 10.1002/acn3.189

Ferdinandusse, 2015, Clinical and biochemical characterization of four patients with mutations in ECHS1, Orphanet J Rare Dis, 10, 79, 10.1186/s13023-015-0290-1

Tetreault, 2015, Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome, Hum Genet, 134, 981, 10.1007/s00439-015-1577-y

Yamada, 2015, Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion, J Med Genet, 52, 691, 10.1136/jmedgenet-2015-103231

Peters, 2015, Metabolite studies in HIBCH and ECHS1 defects: Implications for screening, Mol Genet Metab, 115, 168, 10.1016/j.ymgme.2015.06.008

Houten, 2010, A general introduction to the biochemistry of mitochondrial fatty acid beta-oxidation, J Inherit Metab Dis, 33, 469, 10.1007/s10545-010-9061-2

Wanders, 2012, Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway, J Inherit Metab Dis, 35, 5, 10.1007/s10545-010-9236-x

Brown, 1982, Beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations, Pediatrics, 70, 532, 10.1542/peds.70.4.532

Footitt, 2008, Mitochondrial disorders and general anaesthesia: a case series and review, Br J Anaesth, 100, 436, 10.1093/bja/aen014