U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease.
Wang PJ, Hwu WL, Lee WT, Wang TR, Shen YZ
Pediatr Neurol 1997 Sep;17(2):125-8. doi: 10.1016/s0887-8994(97)00088-x. PMID: 9367291
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
Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging?
Boltshauser E, Schinzel A, Wichmann W, Haller D, Valavanis A
Hum Genet 1988 Dec;80(4):393-4. doi: 10.1007/BF00273659. PMID: 3198119

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 spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
Hoffman-Zacharska D, Mierzewska H, Szczepanik E, Poznański J, Mazurczak T, Jakubiuk-Tomaszuk A, Mądry J, Kierdaszuk A, Bal J
Med Wieku Rozwoj 2013 Oct-Dec;17(4):293-300. PMID: 24519770
Neurophysiologic studies and MRI in Pelizaeus-Merzbacher disease: comparison of classic and connatal forms.
Wang PJ, Young C, Liu HM, Chang YC, Shen YZ
Pediatr Neurol 1995 Jan;12(1):47-53. doi: 10.1016/0887-8994(94)00124-k. PMID: 7748360
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
Computed tomography in Pelizaeus-Merzbacher disease.
Statz A, Boltshauser E, Schinzel A, Spiess H
Neuroradiology 1981;22(2):103-5. doi: 10.1007/BF00344782. PMID: 7197763

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
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 spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
Hoffman-Zacharska D, Mierzewska H, Szczepanik E, Poznański J, Mazurczak T, Jakubiuk-Tomaszuk A, Mądry J, Kierdaszuk A, Bal J
Med Wieku Rozwoj 2013 Oct-Dec;17(4):293-300. PMID: 24519770
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
Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
Gencic S, Abuelo D, Ambler M, Hudson LD
Am J Hum Genet 1989 Sep;45(3):435-42. PMID: 2773936Free PMC Article

Clinical prediction guides

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
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
Wolf NI, Sistermans EA, Cundall M, Hobson GM, Davis-Williams AP, Palmer R, Stubbs P, Davies S, Endziniene M, Wu Y, Chong WK, Malcolm S, Surtees R, Garbern JY, Woodward KJ
Brain 2005 Apr;128(Pt 4):743-51. Epub 2005 Feb 2 doi: 10.1093/brain/awh409. PMID: 15689360
A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.
Seeman P, Paderova K, Benes V Jr, Sistermans EA
Int J Mol Med 2002 Feb;9(2):125-9. PMID: 11786921
Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
Gencic S, Abuelo D, Ambler M, Hudson LD
Am J Hum Genet 1989 Sep;45(3):435-42. PMID: 2773936Free PMC Article
Computed tomography in Pelizaeus-Merzbacher disease.
Statz A, Boltshauser E, Schinzel A, Spiess H
Neuroradiology 1981;22(2):103-5. doi: 10.1007/BF00344782. PMID: 7197763

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

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...