U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Goldman SA
Arch Neurol 2011 Jul;68(7):848-56. Epub 2011 Mar 14 doi: 10.1001/archneurol.2011.46. PMID: 21403006Free PMC Article
Hausmanowa-Petrusewicz I
Neurol Neurochir Pol 2001;35 Suppl 3:29-35. PMID: 12001651

Recent clinical studies

Etiology

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
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
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
Salman MS, Marles SL, Booth FA, Del Bigio MR
Pediatr Neurol 2009 May;40(5):365-70. doi: 10.1016/j.pediatrneurol.2008.11.020. PMID: 19380073
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

Merheb E, Cui MH, DuBois JC, Branch CA, Gulinello M, Shafit-Zagardo B, Moir RD, Willis IM
Proc Natl Acad Sci U S A 2021 Oct 5;118(40) doi: 10.1073/pnas.2024378118. PMID: 34583988Free PMC Article
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
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
Landrieu P, Baets J
Handb Clin Neurol 2013;115:863-91. doi: 10.1016/B978-0-444-52902-2.00049-7. PMID: 23931819
Schiffmann R, van der Knaap MS
Curr Opin Neurol 2004 Apr;17(2):187-92. doi: 10.1097/00019052-200404000-00017. PMID: 15021247

Therapy

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
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
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

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
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
Hausmanowa-Petrusewicz I
Neurol Neurochir Pol 2001;35 Suppl 3:29-35. PMID: 12001651
Geller TJ, Connolly AM, Kotagal S, Prensky AL
J Child Neurol 2000 Aug;15(8):513-7. doi: 10.1177/088307380001500804. PMID: 10961789
Towfighi J
Ann Neurol 1981 Dec;10(6):570-3. doi: 10.1002/ana.410100614. PMID: 7325606

Clinical prediction guides

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
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
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
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
Jitpimolmard S, Small J, King RH, Geddes J, Misra P, McLaughlin J, Muddle JR, Cole M, Harding AE, Thomas PK
Acta Neuropathol 1993;86(1):29-35. doi: 10.1007/BF00454895. PMID: 8372639

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...