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Spinal hypomyelination

MedGen UID:
1782808
•Concept ID:
C5539844
•
Finding
HPO: HP:0033846

Definition

Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinal hypomyelination

Professional guidelines

PubMed

Progenitor cell-based treatment of the pediatric myelin disorders.
Goldman SA
Arch Neurol 2011 Jul;68(7):848-56. Epub 2011 Mar 14 doi: 10.1001/archneurol.2011.46. PMID: 21403006Free PMC Article
Phenotype and genotype correlation in childhood spinal muscular atrophy.
Hausmanowa-Petrusewicz I
Neurol Neurochir Pol 2001;35 Suppl 3:29-35. PMID: 12001651

Recent clinical studies

Etiology

Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Bremer J, Meinhardt A, Katona I, Senderek J, Kämmerer-Gassler EK, Roos A, Ferbert A, Schröder JM, Nikolin S, Nolte K, Sellhaus B, Popzhelyazkova K, Tacke F, Schara-Schmidt U, Neuen-Jacob E, de Groote CC, de Jonghe P, Timmerman V, Baets J, Weis J
Brain Pathol 2024 Jan;34(1):e13200. Epub 2023 Aug 15 doi: 10.1111/bpa.13200. PMID: 37581289Free PMC Article
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model.
Georgiou E, Sidiropoulou K, Richter J, Papaneophytou C, Sargiannidou I, Kagiava A, von Jonquieres G, Christodoulou C, Klugmann M, Kleopa KA
Brain 2017 Mar 1;140(3):599-616. doi: 10.1093/brain/aww351. PMID: 28100454Free PMC Article
Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study.
Chanson JB, Echaniz-Laguna A, Blanc F, Lacour A, Ballonzoli L, Kremer S, Namer IJ, Lannes B, Tranchant C, Vermersch P, de Seze J
J Neurol Neurosurg Psychiatry 2013 Apr;84(4):392-7. Epub 2012 Dec 15 doi: 10.1136/jnnp-2012-303725. PMID: 23243264
Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout mice).
Oya Y, Nakayasu H, Fujita N, Suzuki K, Suzuki K
Acta Neuropathol 1998 Jul;96(1):29-40. doi: 10.1007/s004010050857. PMID: 9678511

Diagnosis

Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.
Ando M, Higuchi Y, Yuan JH, Yoshimura A, Kitao R, Morimoto T, Taniguchi T, Takeuchi M, Takei J, Hiramatsu Y, Sakiyama Y, Hashiguchi A, Okamoto Y, Mitsui J, Ishiura H, Tsuji S, Takashima H
Ann Clin Transl Neurol 2022 May;9(5):747-755. Epub 2022 Apr 28 doi: 10.1002/acn3.51555. PMID: 35482004Free PMC Article
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
4H Leukodystrophy: Lessons from 3T Imaging.
Cayami FK, Bugiani M, Pouwels PJW, Bernard G, van der Knaap MS, Wolf NI
Neuropediatrics 2018 Apr;49(2):112-117. Epub 2017 Nov 27 doi: 10.1055/s-0037-1608780. PMID: 29179231
Early onset (childhood) monogenic neuropathies.
Landrieu P, Baets J
Handb Clin Neurol 2013;115:863-91. doi: 10.1016/B978-0-444-52902-2.00049-7. PMID: 23931819
The latest on leukodystrophies.
Schiffmann R, van der Knaap MS
Curr Opin Neurol 2004 Apr;17(2):187-92. doi: 10.1097/00019052-200404000-00017. PMID: 15021247

Therapy

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.
Wolf NI, Toro C, Kister I, Latif KA, Leventer R, Pizzino A, Simons C, Abbink TE, Taft RJ, van der Knaap MS, Vanderver A
Neurology 2015 Jan 20;84(3):226-30. Epub 2014 Dec 19 doi: 10.1212/WNL.0000000000001157. PMID: 25527264Free PMC Article
Attenuation of endoplasmic reticulum stress in Pelizaeus-Merzbacher disease by an anti-malaria drug, chloroquine.
Morimura T, Numata Y, Nakamura S, Hirano E, Gotoh L, Goto YI, Urushitani M, Inoue K
Exp Biol Med (Maywood) 2014 Apr;239(4):489-501. Epub 2014 Feb 12 doi: 10.1177/1535370213520108. PMID: 24521562
6-Shogaol, a natural product, reduces cell death and restores motor function in rat spinal cord injury.
Kyung KS, Gon JH, Geun KY, Sup JJ, Suk WJ, Ho KJ
Eur J Neurosci 2006 Aug;24(4):1042-52. doi: 10.1111/j.1460-9568.2006.04908.x. PMID: 16930431

Prognosis

Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
Tonduti D, Mura E, Masnada S, Bertini E, Aiello C, Zini D, Parmeggiani L, Cantalupo G, Talenti G, Veggiotti P, Spaccini L, Iascone M, Parazzini C
J Hum Genet 2021 Oct;66(10):1035-1037. Epub 2021 Mar 30 doi: 10.1038/s10038-021-00921-1. PMID: 33785861
DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder.
Wolf NI, Toro C, Kister I, Latif KA, Leventer R, Pizzino A, Simons C, Abbink TE, Taft RJ, van der Knaap MS, Vanderver A
Neurology 2015 Jan 20;84(3):226-30. Epub 2014 Dec 19 doi: 10.1212/WNL.0000000000001157. PMID: 25527264Free PMC Article
Phenotype and genotype correlation in childhood spinal muscular atrophy.
Hausmanowa-Petrusewicz I
Neurol Neurochir Pol 2001;35 Suppl 3:29-35. PMID: 12001651
Progressive infantile axonal polyneuropathy.
Geller TJ, Connolly AM, Kotagal S, Prensky AL
J Child Neurol 2000 Aug;15(8):513-7. doi: 10.1177/088307380001500804. PMID: 10961789
Congenital hypomyelination neuropathy: glial bundles in cranial and spinal nerve roots.
Towfighi J
Ann Neurol 1981 Dec;10(6):570-3. doi: 10.1002/ana.410100614. PMID: 7325606

Clinical prediction guides

Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Bremer J, Meinhardt A, Katona I, Senderek J, Kämmerer-Gassler EK, Roos A, Ferbert A, Schröder JM, Nikolin S, Nolte K, Sellhaus B, Popzhelyazkova K, Tacke F, Schara-Schmidt U, Neuen-Jacob E, de Groote CC, de Jonghe P, Timmerman V, Baets J, Weis J
Brain Pathol 2024 Jan;34(1):e13200. Epub 2023 Aug 15 doi: 10.1111/bpa.13200. PMID: 37581289Free PMC Article
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
Di Donato I, Gallo A, Ricca I, Fini N, Silvestri G, Gurrieri F, Cirillo M, Cerase A, Natale G, Matrone F, Riso V, Melone MAB, Tessa A, De Michele G, Federico A, Filla A, Dotti MT, Santorelli FM
Neurol Sci 2022 Feb;43(2):1071-1077. Epub 2021 Jul 23 doi: 10.1007/s10072-021-05462-1. PMID: 34296356Free PMC Article
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
Tonduti D, Mura E, Masnada S, Bertini E, Aiello C, Zini D, Parmeggiani L, Cantalupo G, Talenti G, Veggiotti P, Spaccini L, Iascone M, Parazzini C
J Hum Genet 2021 Oct;66(10):1035-1037. Epub 2021 Mar 30 doi: 10.1038/s10038-021-00921-1. PMID: 33785861
New roles of NCX in glial cells: activation of microglia in ischemia and differentiation of oligodendrocytes.
Boscia F, D'Avanzo C, Pannaccione A, Secondo A, Casamassa A, Formisano L, Guida N, Scorziello A, Di Renzo G, Annunziato L
Adv Exp Med Biol 2013;961:307-16. doi: 10.1007/978-1-4614-4756-6_26. PMID: 23224890
Congenital hypomyelination neuropathy in a newborn.
Hakamada S, Kumagai T, Hara K, Miyazaki S, Miyazaki K, Watanabe K
Neuropediatrics 1983 Aug;14(3):182-3. doi: 10.1055/s-2008-1059575. PMID: 6312355

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