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Pelizaeus-Merzbacher disease, mild

MedGen UID:
864921
•Concept ID:
C4016484
•
Finding
Synonym: PELIZAEUS-MERZBACHER DISEASE, MILD
 
OMIM®: 300401

Professional guidelines

PubMed

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
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O
Eur J Hum Genet 2000 Nov;8(11):837-45. doi: 10.1038/sj.ejhg.5200537. PMID: 11093273
Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
Hodes ME, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR
Am J Med Genet 1999 Jan 15;82(2):132-9. doi: 10.1002/(sici)1096-8628(19990115)82:2<132::aid-ajmg6>3.0.co;2-4. PMID: 9934976

Recent clinical studies

Etiology

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
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N
Brain Dev 2016 Jun;38(6):571-80. Epub 2016 Jan 13 doi: 10.1016/j.braindev.2015.12.007. PMID: 26774704
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
Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.
Hurst S, Garbern J, Trepanier A, Gow A
Genet Med 2006 Jun;8(6):371-8. doi: 10.1097/01.gim.0000223551.95862.c3. PMID: 16778599
Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.
Plecko B, Stöckler-Ipsiroglu S, Gruber S, Mlynarik V, Moser E, Simbrunner J, Ebner F, Bernert G, Harrer G, Gal A, Prayer D
Neuropediatrics 2003 Jun;34(3):127-36. doi: 10.1055/s-2003-41276. PMID: 12910435

Diagnosis

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
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N
Brain Dev 2016 Jun;38(6):571-80. Epub 2016 Jan 13 doi: 10.1016/j.braindev.2015.12.007. PMID: 26774704
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
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.
Inoue K, Osaka H, Imaizumi K, Nezu A, Takanashi J, Arii J, Murayama K, Ono J, Kikawa Y, Mito T, Shaffer LG, Lupski JR
Ann Neurol 1999 May;45(5):624-32. PMID: 10319885
A possible Japanese male case of Pelizaeus-Merzbacher disease.
Hayashi T, Ichiyama T, Koga M, Okino F, Katayama K, Kobayashi K
Brain Dev 1990;12(4):439-43. doi: 10.1016/s0387-7604(12)80080-5. PMID: 2240467

Therapy

The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N
Brain Dev 2016 Jun;38(6):571-80. Epub 2016 Jan 13 doi: 10.1016/j.braindev.2015.12.007. PMID: 26774704
Otoacoustic emission in patients with neurological disorders who have auditory brainstem response abnormality.
Kon K, Inagaki M, Kaga M, Sasaki M, Hanaoka S
Brain Dev 2000 Aug;22(5):327-35. doi: 10.1016/s0387-7604(00)00124-8. PMID: 10891641

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
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
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N
Brain Dev 2016 Jun;38(6):571-80. Epub 2016 Jan 13 doi: 10.1016/j.braindev.2015.12.007. PMID: 26774704
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
Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.
Plecko B, Stöckler-Ipsiroglu S, Gruber S, Mlynarik V, Moser E, Simbrunner J, Ebner F, Bernert G, Harrer G, Gal A, Prayer D
Neuropediatrics 2003 Jun;34(3):127-36. doi: 10.1055/s-2003-41276. PMID: 12910435

Clinical prediction guides

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
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N
Brain Dev 2016 Jun;38(6):571-80. Epub 2016 Jan 13 doi: 10.1016/j.braindev.2015.12.007. PMID: 26774704
Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease.
Numata Y, Morimura T, Nakamura S, Hirano E, Kure S, Goto YI, Inoue K
J Biol Chem 2013 Mar 15;288(11):7451-7466. Epub 2013 Jan 23 doi: 10.1074/jbc.M112.435388. PMID: 23344956Free PMC Article
Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.
Hurst S, Garbern J, Trepanier A, Gow A
Genet Med 2006 Jun;8(6):371-8. doi: 10.1097/01.gim.0000223551.95862.c3. PMID: 16778599
Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.
Plecko B, Stöckler-Ipsiroglu S, Gruber S, Mlynarik V, Moser E, Simbrunner J, Ebner F, Bernert G, Harrer G, Gal A, Prayer D
Neuropediatrics 2003 Jun;34(3):127-36. doi: 10.1055/s-2003-41276. PMID: 12910435

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