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Pelizaeus Merzbacher like disease

MedGen UID:
894734
•Concept ID:
C4274084
•
Disease or Syndrome
Synonyms: Pelizaeus-Merzbacher-like disease; PMLD; PMLD - Pelizaeus Merzbacher like disease
SNOMED CT: Pelizaeus Merzbacher like disease (717042001); PMLD - Pelizaeus Merzbacher like disease (717042001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017226
Orphanet: ORPHA280270

Definition

An autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. Prevalence is unknown. It is characterized by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leukodystrophy on magnetic resonance imaging. [from SNOMEDCT_US]

Professional guidelines

PubMed

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.
Mahdieh N, Soveizi M, Tavasoli AR, Rabbani A, Ashrafi MR, Kohlschütter A, Rabbani B
Sci Rep 2021 Feb 5;11(1):3231. doi: 10.1038/s41598-021-82778-0. PMID: 33547378Free 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

Recent clinical studies

Etiology

Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.
Ji T, Li D, Wu Y, Xiao J, Ji H, Wu X, Wang J, Jiang Y
Minerva Pediatr (Torino) 2023 Feb;75(1):32-38. Epub 2016 Apr 8 doi: 10.23736/S2724-5276.16.04451-0. PMID: 27057822
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
Molecular mechanisms of gap junction mutations in myelinating cells.
Sargiannidou I, Markoullis K, Kleopa KA
Histol Histopathol 2010 Sep;25(9):1191-206. doi: 10.14670/HH-25.1191. PMID: 20607661
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
Vaurs-Barrière C, Deville M, Sarret C, Giraud G, Des Portes V, Prats-Viñas JM, De Michele G, Dan B, Brady AF, Boespflug-Tanguy O, Touraine R
Ann Neurol 2009 Jan;65(1):114-8. doi: 10.1002/ana.21579. PMID: 19194886
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J
Neurology 2008 Mar 4;70(10):748-54. Epub 2007 Dec 19 doi: 10.1212/01.wnl.0000284828.84464.35. PMID: 18094336

Diagnosis

Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.
Ji T, Li D, Wu Y, Xiao J, Ji H, Wu X, Wang J, Jiang Y
Minerva Pediatr (Torino) 2023 Feb;75(1):32-38. Epub 2016 Apr 8 doi: 10.23736/S2724-5276.16.04451-0. PMID: 27057822
Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.
Javadikooshesh S, Zaimkohan H, Pourghorban P, Bahramim F, Ebadi N
Iran J Med Sci 2021 Nov;46(6):493-497. doi: 10.30476/IJMS.2021.87126.1736. PMID: 34840390Free 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
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
Ji H, Li D, Wu Y, Zhang Q, Gu Q, Xie H, Ji T, Wang H, Zhao L, Zhao H, Yang Y, Feng H, Xiong H, Ji J, Yang Z, Kou L, Li M, Bao X, Chang X, Zhang Y, Li L, Li H, Niu Z, Wu X, Xiao J, Jiang Y, Wang J
PLoS One 2018;13(2):e0188869. Epub 2018 Feb 16 doi: 10.1371/journal.pone.0188869. PMID: 29451896Free PMC Article
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
Hobson GM, Garbern JY
Semin Neurol 2012 Feb;32(1):62-7. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306388. PMID: 22422208

Therapy

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.
Bugiani M, Al Shahwan S, Lamantea E, Bizzi A, Bakhsh E, Moroni I, Balestrini MR, Uziel G, Zeviani M
Neurology 2006 Jul 25;67(2):273-9. Epub 2006 May 17 doi: 10.1212/01.wnl.0000223832.66286.e4. PMID: 16707726

Prognosis

Inherited white matter disorders: Hypomyelination (myelin disorders).
Perrier S, Gauquelin L, Bernard G
Handb Clin Neurol 2024;204:197-223. doi: 10.1016/B978-0-323-99209-1.00014-4. PMID: 39322379
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J
Mol Biol Rep 2019 Aug;46(4):4507-4516. Epub 2019 Jul 3 doi: 10.1007/s11033-019-04906-4. PMID: 31270756
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
Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.
Diekmann S, Henneke M, Burckhardt BC, Gärtner J
Eur J Hum Genet 2010 Sep;18(9):985-92. Epub 2010 May 5 doi: 10.1038/ejhg.2010.61. PMID: 20442743Free PMC Article
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
Vaurs-Barrière C, Deville M, Sarret C, Giraud G, Des Portes V, Prats-Viñas JM, De Michele G, Dan B, Brady AF, Boespflug-Tanguy O, Touraine R
Ann Neurol 2009 Jan;65(1):114-8. doi: 10.1002/ana.21579. PMID: 19194886

Clinical prediction guides

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J
Mol Biol Rep 2019 Aug;46(4):4507-4516. Epub 2019 Jul 3 doi: 10.1007/s11033-019-04906-4. PMID: 31270756
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
The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions.
Kim MS, Gloor GB, Bai D
Biochem J 2013 Jun 1;452(2):249-58. doi: 10.1042/BJ20121821. PMID: 23544880
Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.
Diekmann S, Henneke M, Burckhardt BC, Gärtner J
Eur J Hum Genet 2010 Sep;18(9):985-92. Epub 2010 May 5 doi: 10.1038/ejhg.2010.61. PMID: 20442743Free PMC Article
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
Vaurs-Barrière C, Deville M, Sarret C, Giraud G, Des Portes V, Prats-Viñas JM, De Michele G, Dan B, Brady AF, Boespflug-Tanguy O, Touraine R
Ann Neurol 2009 Jan;65(1):114-8. doi: 10.1002/ana.21579. PMID: 19194886

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