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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.
See: This record
X-linked recessive inheritance (Orphanet)
 
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

Recent Advancements in the Diagnosis and Treatment of Leukodystrophies.
Bradbury AM, Ream MA
Semin Pediatr Neurol 2021 Apr;37:100876. Epub 2021 Feb 10 doi: 10.1016/j.spen.2021.100876. PMID: 33892849
Opening New Horizons in the Treatment of Childhood Onset Leukodystrophies.
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
Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease.
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

Recent clinical studies

Etiology

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
Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes.
Inoue K
Adv Exp Med Biol 2019;1190:201-216. doi: 10.1007/978-981-32-9636-7_13. PMID: 31760646
Genetic mimics of cerebral palsy.
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
The leukodystrophies.
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
Leukodystrophies.
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242

Diagnosis

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
Genetic mimics of cerebral palsy.
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
Neurogenetics of Pelizaeus-Merzbacher disease.
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
The leukodystrophies.
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
Leukodystrophies.
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242

Therapy

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
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
Recent Advancements in the Diagnosis and Treatment of Leukodystrophies.
Bradbury AM, Ream MA
Semin Pediatr Neurol 2021 Apr;37:100876. Epub 2021 Feb 10 doi: 10.1016/j.spen.2021.100876. PMID: 33892849
Oligodendrocyte Death in Pelizaeus-Merzbacher Disease Is Rescued by Iron Chelation.
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
Opening New Horizons in the Treatment of Childhood Onset Leukodystrophies.
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
Gene suppressing therapy for Pelizaeus-Merzbacher disease using artificial microRNA.
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

Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.
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
Genetic mimics of cerebral palsy.
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
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
Lossos A, Elazar N, Lerer I, Schueler-Furman O, Fellig Y, Glick B, Zimmerman BE, Azulay H, Dotan S, Goldberg S, Gomori JM, Ponger P, Newman JP, Marreed H, Steck AJ, Schaeren-Wiemers N, Mor N, Harel M, Geiger T, Eshed-Eisenbach Y, Meiner V, Peles E
Brain 2015 Sep;138(Pt 9):2521-36. Epub 2015 Jul 15 doi: 10.1093/brain/awv204. PMID: 26179919Free PMC Article
Leukodystrophies.
Perlman SJ, Mar S
Adv Exp Med Biol 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. PMID: 22411242
Pelizaeus-Merzbacher disease.
Kumar R, Aneja S, Taluja V, Agarwal A, Mahajan H
Indian J Pediatr 1997 Sep-Oct;64(5):705-9. doi: 10.1007/BF02726130. PMID: 10771906

Clinical prediction guides

Identification of PMD subgroups using a myelination score for PMD.
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
Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.
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
Epilepsy in children with leukodystrophies.
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
Auditory function in Pelizaeus-Merzbacher disease.
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
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
Lossos A, Elazar N, Lerer I, Schueler-Furman O, Fellig Y, Glick B, Zimmerman BE, Azulay H, Dotan S, Goldberg S, Gomori JM, Ponger P, Newman JP, Marreed H, Steck AJ, Schaeren-Wiemers N, Mor N, Harel M, Geiger T, Eshed-Eisenbach Y, Meiner V, Peles E
Brain 2015 Sep;138(Pt 9):2521-36. Epub 2015 Jul 15 doi: 10.1093/brain/awv204. PMID: 26179919Free PMC Article

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