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Chapter 7 - A Phenomenology-Based Approach to Inborn Errors of Metabolism with Ataxia

from Section I - General Principles and a Phenomenology-Based Approach to Movement Disorders and Inherited Metabolic Disorders

Published online by Cambridge University Press:  24 September 2020

By
Bianca M. L. Stelten  and
Bart P. C. van de Warrenburg
Edited by
Darius Ebrahimi-Fakhari  and
Phillip L. Pearl
Darius Ebrahimi-Fakhari
Affiliation:
Harvard Medical School
Phillip L. Pearl
Affiliation:
Harvard Medical School
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Summary

Ataxia means “lack of order,” and is defined as a cerebellar disorder characterized by disturbances of coordinated muscle activity. Clinically, cerebellar dysfunction manifests as nystagmus, dysarthria, intention tremor, dysdiadochokinesia, dysmetria, and/or gait ataxia [1]. Ataxia can be seen in numerous genetic, degenerative, and acquired diseases. For a consistent terminology and suggested work-up in this chapter, ataxia is phenotypically classified as: intermittent ataxia, chronic (progressive) ataxia, and ataxia with myoclonic epilepsy [2]

Type
Chapter
Information
Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
 , pp. 94 - 110
Publisher: Cambridge University Press
Print publication year: 2020

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References

Poretti, A, Benson, JE, Huisman, TA, Boltshauser, E. Acute ataxia in children: Approach to clinical presentation and role of additional investigations. Neuropediatrics. 2013;44(3):127–41.Google ScholarPubMed
Garcia-Cazorla, A, Wolf, NI, Serrano, M, et al. Inborn errors of metabolism and motor disturbances in children. J Inherit Metab Dis. 2009;32(5):618–29.Google Scholar
Saudubray, JM, Sedel, F, Walter, JH. Clinical approach to treatable inborn metabolic diseases: An introduction. J Inherit Metab Dis. 2006;29(2–3):261–74.Google Scholar
Parker, CC, Evans, OB. Metabolic disorders causing childhood ataxia. Semin Pediatr Neurol. 2003;10(3):193–9.Google Scholar
van Gaalen, J, Kerstens, FG, Maas, RP, Harmark, L, van de Warrenburg, BP. Drug-induced cerebellar ataxia: A systematic review. CNS Drugs. 2014;28(12):1139–53.CrossRefGoogle ScholarPubMed
Gray, RG, Preece, MA, Green, SH, et al. Inborn errors of metabolism as a cause of neurological disease in adults: An approach to investigation. J Neurol Neurosurg Psychiatry. 2000;69(1):5–12.Google Scholar
Espinos, C, Pineda, M, Martinez-Rubio, D, et al. Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. J Med Genet. 2009;46(6):407–11.Google Scholar
Cheon, CK, Lee, BH, Ko, JM, Kim, HJ, Yoo, HW. Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. Pediatr Neurol. 2010;42(5):369–71.Google Scholar
Strauss, KA, Puffenberger, EG, Morton, DH. Maple syrup urine disease. GeneReviews®. 2006;Jan 30 (updated May 9, 2013).Google Scholar
Simon, E, Flaschker, N, Schadewaldt, P, Langenbeck, U, Wendel, U. Variant maple syrup urine disease (MSUD): The entire spectrum. J Inherit Metab Dis. 2006;29(6):716–24.Google Scholar
Superti-Furga, A, Hoffmann, GF. Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): Advances and unanswered questions. Report from an international meeting. Eur J Pediatr. 1997;156(11):821–8.Google Scholar
Rowe, PC, Newman, SL, Brusilow, SW. Natural history of symptomatic partial ornithine transcarbamylase deficiency. N Engl J Med. 1986;314(9):541–7.Google Scholar
Patel, KP, O’Brien, TW, Subramony, SH, Shuster, J, Stacpoole, PW. The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients. Mol Genet Metab. 2012;106(3):385–94.Google Scholar
Debray, FG, Lambert, M, Gagne, R, et al. Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia. Neuropediatrics. 2008;39(1):20–3.Google Scholar
Marin-Valencia, I, Roe, CR, Pascual, JM. Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis. Mol Genet Metab. 2010;101(1):9–17.Google Scholar
Sofou, K, de Coo, IFM, Ostergaard, E, et al. Phenotype–genotype correlations in Leigh syndrome: New insights from a multicentre study of 96 patients. J Med Genet. 2018;55(1):21–7.CrossRefGoogle ScholarPubMed
Wolf, B. Biotinidase deficiency. GeneReviews®. 2000;Mar 24 (updated Jun 9, 2016).Google Scholar
Wolf, B. “Think metabolic” in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder. Neurol Clin Pract. 2017;7(6):518–22.Google Scholar
Tabarki, B, Al-Shafi, S, Al-Shahwan, S, et al. Biotin-responsive basal ganglia disease revisited: Clinical, radiologic, and genetic findings. Neurology. 2013;80(3):261–7.Google Scholar
Leen, WG, Klepper, J, Verbeek, MM, et al. Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder. Brain. 2010;133(Pt 3):655–70.Google Scholar
Leen, WG, Mewasingh, L, Verbeek, MM, et al. Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet. Mov Disord. 2013;28(10):1439–42.CrossRefGoogle ScholarPubMed
Verrips, A, van Engelen, BG, Wevers, RA, et al. Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. Arch Neurol. 2000;57(4):520–4.Google Scholar
Yahalom, G, Tsabari, R, Molshatzki, N, et al. Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: Early versus late diagnosis. Clin Neuropharmacol. 2013;36(3):78–83.Google Scholar
Hentati, F, El-Euch, G, Bouhlal, Y, Amouri, R. Ataxia with vitamin E deficiency and abetalipoproteinemia. Handb Clin Neurol. 2012;103:295–305.CrossRefGoogle ScholarPubMed
Seo, GH, Kim, YM, Oh, SH, et al. Biochemical and molecular characterisation of neurological Wilson disease. J Med Genet. 2018;55(9):587–93.CrossRefGoogle ScholarPubMed
Bandmann, O, Weiss, KH, Kaler, SG. Wilson’s disease and other neurological copper disorders. Lancet Neurol. 2015;14(1):103–13.Google Scholar
Vroegindeweij, LHP, Langendonk, JG, Langeveld, M, et al. New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients. Parkinsonism Relat Disord. 2017;36:33–40.Google Scholar
Poli, L, Alberici, A, Buzzi, P, Marchina, E, Lanari, A, Arosio, C, et al. Is aceruloplasminemia treatable? Combining iron chelation and fresh-frozen plasma treatment. Neurol Sci. 2017;38(2):357–60.CrossRefGoogle ScholarPubMed
Wanders, RJA, Waterham, HR, Leroy, BP. Refsum disease. GeneReviews®. 2006;Mar 20 (updated Jun 11, 2015).Google Scholar
Patterson, MC, Mengel, E, Wijburg, FA, et al. Disease and patient characteristics in NP-C patients: Findings from an international disease registry. Orphanet J Rare Dis. 2013;8:12.Google Scholar
Emmanuele, V, Lopez, LC, Berardo, A, et al. Heterogeneity of coenzyme Q10 deficiency: Patient study and literature review. Arch Neurol. 2012;69(8):978–83.Google Scholar
Balreira, A, Boczonadi, V, Barca, E, et al. ANO10 mutations cause ataxia and coenzyme Q(1)(0) deficiency. J Neurol. 2014;261(11):2192–8.Google Scholar
Raymond, GV, Moser, AB, Fatemi, A. X-linked adrenoleukodystrophy. GeneReviews®. 1999;Mar 26 (updated Feb 15, 2018).Google Scholar
Mahmood, A, Berry, J, Wenger, DA, et al. Metachromatic leukodystrophy: A case of triplets with the late infantile variant and a systematic review of the literature. J Child Neurol. 2010;25(5):572–80.Google Scholar
Sedel, F, Tourbah, A, Fontaine, B, et al. Leukoencephalopathies associated with inborn errors of metabolism in adults. J Inherit Metab Dis. 2008;31(3):295–307.Google Scholar
Kwon, JM, Matern, D, Kurtzberg, J, et al. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis. 2018;13:30.Google Scholar
Malm, D, Nilssen, O. Alpha-mannosidosis. Orphanet J Rare Dis. 2008;3:21.Google Scholar
Mercimek-Mahmutogly, S, Salamons, GS. Creatine deficiency syndromes. GeneReviews®. 2009;Jan 15 (updated Dec 10, 2015).Google Scholar
Hyland, K, Shoffner, J, Heales, SJ. Cerebral folate deficiency. J Inherit Metab Dis. 2010;33(5):563–70.Google Scholar
Synofzik, M, Srulijes, K, Godau, J, Berg, D, Schols, L. Characterizing POLG ataxia: Clinics, electrophysiology and imaging. Cerebellum. 2012;11(4):1002–11.Google Scholar
Steenweg, ME, Jakobs, C, Errami, A, et al. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: A genotype–phenotype study. Hum Mutat. 2010;31(4):380–90.Google Scholar
Miossec-Chauvet, E, Mikaeloff, Y, Heron, D, et al. Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia. Neuropediatrics. 2003;34(1):1–6.CrossRefGoogle ScholarPubMed
Drouin-Garraud, V, Belgrand, M, Grunewald, S, et al. Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling. Am J Med Genet. 2001;101(1):46–9.Google Scholar
Maegawa, GH, Stockley, T, Tropak, M, et al. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics. 2006;118(5):e1550-62.Google Scholar
Thorburn, DR, Rahman, J, Rahman, S. Mitochondrial DNA-associated Leigh syndrome and NARP. GeneReviews®. 2003;Oct 30 (updated Sep 28, 2017).Google Scholar
Craig, K, Elliott, HR, Keers, SM, et al. Episodic ataxia and hemiplegia caused by the 8993 T→C mitochondrial DNA mutation. J Med Genet. 2007;44(12):797–9.Google Scholar
Yamashita, T, Mitsui, J, Shimozawa, N, et al. Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype. J Neurol Sci. 2017;375:424–9.Google Scholar
Lapalme-Remis, S, Lewis, EC, De Meulemeester, C, et al. Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Neurology. 2015;85(10):861–5.Google Scholar
Pearl, PL, Wiwattanadittakul, N, Roullet, JB, Gibson, KM. Succinic semialdehyde dehydrogenase deficiency. GeneReviews®. 2004;May 5 (updated Apr 28, 2016).Google Scholar
van der Veen, S, Zutt, R, Elting, JWJ, et al. Progressive myoclonus ataxia: Time for a new definition? Mov Disord. 2018;33(8):1281–6.CrossRefGoogle ScholarPubMed
Seyrantepe, V, Poupetova, H, Froissart, R, et al. Molecular pathology of NEU1 gene in sialidosis. Hum Mutat. 2003;22(5):343–52.Google Scholar
Turnbull, J, Tiberia, E, Striano, P, et al. Lafora disease. Epileptic Disord. 2016;18(S2):38–62.Google Scholar
DiMauro, S, Hirano, M. MERRF. GeneReviews®. 2003;Jun 3 (updated Jan 29, 2015).Google Scholar
Mancini, C, Nassani, S, Guo, Y, et al. Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. J Neurol. 2015;262(1):173–8.Google Scholar
Roshan Lal, T, Sidransky, E. The spectrum of neurological manifestations associated with Gaucher disease. Diseases. 2017;5(1).Google Scholar

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