Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches

European Journal of Medical Genetics - Tập 63 - Trang 104046 - 2020
Sabine Illsinger1, G. Christoph Korenke1, Sylvia Boesch2, Michael Nocker2, Daniela Karall3, Jean M. Nuoffer4,5, Lucia Laugwitz6,7, Johannes A. Mayr8, Sabine Scholl-Bürgi3, Peter Freisinger9, Tobias Kowald10, Stefan Kölker11, Holger Prokisch12,13, Tobias B. Haack6,13,14
1University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, Oldenburg, Germany
2Department of Neurology, Medical University Innsbruck, Innsbruck, Austria
3Department of Paediatrics I (Inherited Metabolic Disorders), Medical University of Innsbruck, Innsbruck, Austria
4University Institute of Clinical Chemistry, Bern University Hospital, Bern, Switzerland
5Pediatric Endocrinology, Diabetology and Metabolism, University Children's Hospital Bern, Switzerland
6Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
7Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076, Tübingen, Germany
8Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria
9Department of Pediatrics, Klinikum Reutlingen, Reutlingen, Germany
10Institute for Diagnostic and Interventional Radiology, Klinikum Oldenburg, Oldenburg, Germany
11Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Germany
12Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany
13Institute of Human Genetics, Technische Universität München, Munich, Germany
14Centre for Rare Diseases, University of Tuebingen, Tübingen, Germany

Tài liệu tham khảo

Albanese, 2013, Phenomenology and classification of dystonia: a consensus update, Mov. Disord., 28, 863, 10.1002/mds.25475

Badawy, 2008, Application of the Phenomenex EZ:faasttrade mark amino acid analysis kit for rapid gas-chromatographic determination of concentrations of plasma tryptophan and its brain uptake competitors, Amino Acids, 34, 587, 10.1007/s00726-007-0012-7

Bedoyan, 2017, Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency, Mol. Genet. Metabol., 120, 342, 10.1016/j.ymgme.2017.02.002

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

Brennenstuhl, 2020, Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency, Mol. Gene. Metabol., 10.1016/j.ymgme.2020.07.001

Burgin, 2020, Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency, FEBS Lett., 594, 590, 10.1002/1873-3468.13735

Carlston, 2019, Extrapolation of variant phase in mitochondrial short-chain enoyl-CoA hydratase (ECHS1) deficiency, JIMD Rep., 43, 103, 10.1007/8904_2018_111

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

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

Fitzsimons, 2018, Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency, Am. J. Med. Genet., 176, 1115, 10.1002/ajmg.a.38658

Gano, 2014, Ketogenic diets, mitochondria, and neurological diseases, J. Lipid Res., 55, 2211, 10.1194/jlr.R048975

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

Haack, 2012, Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA, Am. J. Hum. Genet., 91, 1144, 10.1016/j.ajhg.2012.10.019

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

Huffnagel, 2018, Mitochondrial encephalopathy and transient 3-methylglutaconic aciduria in ECHS1 deficiency: long-term follow-up, JIMD Rep., 39, 83, 10.1007/8904_2017_48

Jackson, 2014, Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency, J. Med. Genet., 51, 170, 10.1136/jmedgenet-2013-101932

Loupatty, 2007, Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration, Am. J. Hum. Genet., 80, 195, 10.1086/510725

Mahajan, 2017, ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention, J. Neurol., 264, 185, 10.1007/s00415-016-8381-z

Olgiati, 2016, Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency, Mov. Disord., 31, 1041, 10.1002/mds.26610

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

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

Quinonez, 2013, Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency, Pediatr. Neurol., 48, 67, 10.1016/j.pediatrneurol.2012.09.013

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

Sharpe, 2018, Mitochondrial fatty acid oxidation disorders associated with short-chain enoyl-CoA hydratase (ECHS1) deficiency, Cells, 7, 10.3390/cells7060046

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

Uchino, 2019, A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome, Human Genome Var., 6, 19, 10.1038/s41439-019-0050-1

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

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

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European Journal of Medical Genetics

Tập 63

104046

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