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Pelizaeus-Merzbacher disease, transitional form

MedGen UID:
199764
•Concept ID:
C0751917
•
Disease or Syndrome
Synonyms: Pelizaeus Merzbacher Disease, Transitional; Pelizaeus-Merzbacher Disease, Transitional; Transitional Pelizaeus Merzbacher Disease; Transitional Pelizaeus-Merzbacher Disease
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:0017223
Orphanet: ORPHA280224

Definition

The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term). [from ORDO]

Term Hierarchy

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

Professional guidelines

PubMed

Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications.
Regis S, Biancheri R, Bertini E, Burlina A, Lualdi S, Bianco MG, Devescovi R, Rossi A, Uziel G, Filocamo M
Clin Genet 2008 Mar;73(3):279-87. Epub 2007 Jan 9 doi: 10.1111/j.1399-0004.2007.00961.x. PMID: 18190592

Recent clinical studies

Etiology

A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
Shiihara T, Watanabe M, Moriyama K, Uematsu M, Sameshima K
Brain Dev 2015 Apr;37(4):455-8. Epub 2014 Jul 16 doi: 10.1016/j.braindev.2014.06.011. PMID: 25043250
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
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
Neuropathology and genetics of Pelizaeus-Merzbacher disease.
Seitelberger F
Brain Pathol 1995 Jul;5(3):267-73. doi: 10.1111/j.1750-3639.1995.tb00603.x. PMID: 8520726
Magnetic resonance imaging and computed tomography in Pelizaeus-Merzbacher disease.
Caro PA, Marks HG
Magn Reson Imaging 1990;8(6):791-6. doi: 10.1016/0730-725x(90)90015-t. PMID: 2266806

Diagnosis

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.
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
The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.
Woodward KJ
Expert Rev Mol Med 2008 May 19;10:e14. doi: 10.1017/S1462399408000677. PMID: 18485258
Pelizaeus-Merzbacher disease.
Koeppen AH, Robitaille Y
J Neuropathol Exp Neurol 2002 Sep;61(9):747-59. doi: 10.1093/jnen/61.9.747. PMID: 12230321
Neuropathology and genetics of Pelizaeus-Merzbacher disease.
Seitelberger F
Brain Pathol 1995 Jul;5(3):267-73. doi: 10.1111/j.1750-3639.1995.tb00603.x. PMID: 8520726
Pelizaeus-Merzbacher disease: classical or connatal?
Scheffer IE, Baraitser M, Wilson J, Harding B, Kendall B, Brett EM
Neuropediatrics 1991 May;22(2):71-8. doi: 10.1055/s-2008-1071420. PMID: 1857497

Therapy

An Open-Label Administration of Bioavailable-Form Curcumin in Patients With Pelizaeus-Merzbacher Disease.
Yamamoto A, Shimizu-Motohashi Y, Ishiyama A, Kurosawa K, Sasaki M, Sato N, Osaka H, Takanashi JI, Inoue K
Pediatr Neurol 2024 Feb;151:80-83. Epub 2023 Dec 1 doi: 10.1016/j.pediatrneurol.2023.11.014. PMID: 38134864
Neural stem cell engraftment and myelination in the human brain.
Gupta N, Henry RG, Strober J, Kang SM, Lim DA, Bucci M, Caverzasi E, Gaetano L, Mandelli ML, Ryan T, Perry R, Farrell J, Jeremy RJ, Ulman M, Huhn SL, Barkovich AJ, Rowitch DH
Sci Transl Med 2012 Oct 10;4(155):155ra137. doi: 10.1126/scitranslmed.3004373. PMID: 23052294Free PMC Article
Pulsed-field gel electrophoresis and radiation hybrid mapping analyses enable the ordering of eleven DNA loci in Xq22.
O'Reilly MA, Alterman LA, Zijlstra J, Malcolm S, Levinsky RJ, Kinnon C
Genomics 1993 Feb;15(2):275-82. doi: 10.1006/geno.1993.1057. PMID: 8449491

Prognosis

Functional characterization of Polr3a hypomyelinating leukodystrophy mutations in the S. cerevisiae homolog, RPC160.
Moir RD, Lavados C, Lee J, Willis IM
Gene 2021 Feb 5;768:145259. Epub 2020 Oct 22 doi: 10.1016/j.gene.2020.145259. PMID: 33148458Free PMC Article
Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.
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
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 disease: classical or connatal?
Scheffer IE, Baraitser M, Wilson J, Harding B, Kendall B, Brett EM
Neuropediatrics 1991 May;22(2):71-8. doi: 10.1055/s-2008-1071420. PMID: 1857497

Clinical prediction guides

An Open-Label Administration of Bioavailable-Form Curcumin in Patients With Pelizaeus-Merzbacher Disease.
Yamamoto A, Shimizu-Motohashi Y, Ishiyama A, Kurosawa K, Sasaki M, Sato N, Osaka H, Takanashi JI, Inoue K
Pediatr Neurol 2024 Feb;151:80-83. Epub 2023 Dec 1 doi: 10.1016/j.pediatrneurol.2023.11.014. PMID: 38134864
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
Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.
Kitsiou-Tzeli S, Konstantinidou A, Sofocleous C, Kosma K, Syrmou A, Giannikou K, Sifakis S, Makrythanasis P, Tzetis M
Birth Defects Res A Clin Mol Teratol 2012 Jun;94(6):494-8. Epub 2012 Apr 18 doi: 10.1002/bdra.23015. PMID: 22511562
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
The impact of Pelizaeus-Merzbacher disease on the family.
McGuire LM, Williams LS, Walsh LE, DeMyer WE, Golomb MR
Pediatr Neurol 2007 Feb;36(2):101-5. doi: 10.1016/j.pediatrneurol.2006.09.015. PMID: 17275661

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