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Pelizaeus-Merzbacher disease, classic form

MedGen UID:
155959
Concept ID:
C0751916
Disease or Syndrome
Synonyms: Classic Pelizaeus Merzbacher Disease; Classic Pelizaeus-Merzbacher Disease; Pelizaeus Merzbacher Disease, Classic; Pelizaeus-Merzbacher Disease, Classic
SNOMED CT: Type I classic Pelizaeus-Merzbacher disease (87607002); Pelizaeus-Merzbacher disease, classic form (87607002)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0017222
Orphanet: ORPHA280219

Definition

The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPelizaeus-Merzbacher disease, classic form
Follow this link to review classifications for Pelizaeus-Merzbacher disease, classic form in Orphanet.

Professional guidelines

PubMed

Bradbury AM, Ream MA
Semin Pediatr Neurol 2021 Apr;37:100876. Epub 2021 Feb 10 doi: 10.1016/j.spen.2021.100876. PMID: 33892849
Osorio MJ, Rowitch DH, Tesar P, Wernig M, Windrem MS, Goldman SA
Stem Cells 2017 Feb;35(2):311-315. Epub 2016 Nov 23 doi: 10.1002/stem.2530. PMID: 27882623Free PMC Article
Garbern J, Hobson G
Prenat Diagn 2002 Nov;22(11):1033-5. doi: 10.1002/pd.465. PMID: 12424770

Recent clinical studies

Etiology

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
Inoue K
Adv Exp Med Biol 2019;1190:201-216. doi: 10.1007/978-981-32-9636-7_13. PMID: 31760646
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Gordon HB, Letsou A, Bonkowsky JL
Semin Neurol 2014 Jul;34(3):312-20. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386769. PMID: 25192509
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242

Diagnosis

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
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Osório MJ, Goldman SA
Handb Clin Neurol 2018;148:701-722. doi: 10.1016/B978-0-444-64076-5.00045-4. PMID: 29478609Free PMC Article
Gordon HB, Letsou A, Bonkowsky JL
Semin Neurol 2014 Jul;34(3):312-20. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386769. PMID: 25192509
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242

Therapy

Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran LT, Thiffault I, Pastinen T, Schiffmann R, Bernard G
Orphanet J Rare Dis 2023 Jul 13;18(1):187. doi: 10.1186/s13023-023-02802-6. PMID: 37443037Free PMC Article
Bradbury AM, Ream MA
Semin Pediatr Neurol 2021 Apr;37:100876. Epub 2021 Feb 10 doi: 10.1016/j.spen.2021.100876. PMID: 33892849
Nobuta H, Yang N, Ng YH, Marro SG, Sabeur K, Chavali M, Stockley JH, Killilea DW, Walter PB, Zhao C, Huie P Jr, Goldman SA, Kriegstein AR, Franklin RJM, Rowitch DH, Wernig M
Cell Stem Cell 2019 Oct 3;25(4):531-541.e6. doi: 10.1016/j.stem.2019.09.003. PMID: 31585094Free PMC Article
Schiller S, Henneke M, Gärtner J
Neuropediatrics 2019 Aug;50(4):211-218. Epub 2019 May 21 doi: 10.1055/s-0039-1685529. PMID: 31113002
Li H, Okada H, Suzuki S, Sakai K, Izumi H, Matsushima Y, Ichinohe N, Goto YI, Okada T, Inoue K
JCI Insight 2019 May 16;4(10) doi: 10.1172/jci.insight.125052. PMID: 31092737Free PMC Article

Prognosis

Duan R, Ji H, Yan H, Wang J, Zhang Y, Zhang Q, Li D, Cao B, Gu Q, Wu Y, Jiang Y, Li M, Wang J
Orphanet J Rare Dis 2022 Mar 28;17(1):137. doi: 10.1186/s13023-022-02267-z. PMID: 35346287Free PMC Article
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Mierzewska H, Jamroz E, Mazurczak T, Hoffman-Zacharska D, Szczepanik E
Folia Neuropathol 2016;54(1):59-65. doi: 10.5114/fn.2016.58916. PMID: 27179222
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242
Kolodny EH
Curr Opin Neurol Neurosurg 1993 Jun;6(3):379-86. PMID: 8507907

Clinical prediction guides

Harting I, Garbade SF, Rosendaal SD, Mohr A, Sherbini O, Vanderver A, Wolf NI
Eur J Paediatr Neurol 2022 Nov;41:71-79. Epub 2022 Nov 4 doi: 10.1016/j.ejpn.2022.10.003. PMID: 36368233
Duan R, Ji H, Yan H, Wang J, Zhang Y, Zhang Q, Li D, Cao B, Gu Q, Wu Y, Jiang Y, Li M, Wang J
Orphanet J Rare Dis 2022 Mar 28;17(1):137. doi: 10.1186/s13023-022-02267-z. PMID: 35346287Free PMC Article
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y
J Neurol 2020 Sep;267(9):2612-2618. Epub 2020 May 9 doi: 10.1007/s00415-020-09889-y. PMID: 32388833
Morlet T, Nagao K, Bean SC, Mora SE, Hopkins SE, Hobson GM
J Neurol 2018 Jul;265(7):1580-1589. Epub 2018 May 3 doi: 10.1007/s00415-018-8884-x. PMID: 29725841
Nevin ZS, Factor DC, Karl RT, Douvaras P, Laukka J, Windrem MS, Goldman SA, Fossati V, Hobson GM, Tesar PJ
Am J Hum Genet 2017 Apr 6;100(4):617-634. Epub 2017 Mar 30 doi: 10.1016/j.ajhg.2017.03.005. PMID: 28366443Free PMC Article

Supplemental Content

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