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Xu, R. Pelizaeus-Merzbacher Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/5219 (accessed on 22 September 2026).
Xu R. Pelizaeus-Merzbacher Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/5219. Accessed September 22, 2026.
Xu, Rita. "Pelizaeus-Merzbacher Disease" Encyclopedia, https://encyclopedia.pub/entry/5219 (accessed September 22, 2026).
Xu, R. (2020, December 24). Pelizaeus-Merzbacher Disease. In Encyclopedia. https://encyclopedia.pub/entry/5219
Xu, Rita. "Pelizaeus-Merzbacher Disease." Encyclopedia. Web. 24 December, 2020.
Pelizaeus-Merzbacher Disease
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-disease

Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system) that primarily affects males.

genetic conditions

References

  1. Garbern JY. Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.Cell Mol Life Sci. 2007 Jan;64(1):50-65. Review.
  2. Garbern JY. Pelizaeus-Merzbacher disease: pathogenic mechanisms and insightsinto the roles of proteolipid protein 1 in the nervous system. J Neurol Sci. 2005Feb 15;228(2):201-3.
  3. Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacherdisease and spastic paraplegia type 2. Neurogenetics. 2005 Feb;6(1):1-16.
  4. Laukka JJ, Kamholz J, Bessert D, Skoff RP. Novel pathologic findings inpatients with Pelizaeus-Merzbacher disease. Neurosci Lett. 2016 Aug 3;627:222-32.doi: 10.1016/j.neulet.2016.05.028.
  5. Mierzewska H, Jamroz E, Mazurczak T, Hoffman-Zacharska D, Szczepanik E.Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.Folia Neuropathol. 2016;54(1):59-65.
  6. Sarret C, Lemaire JJ, Tonduti D, Sontheimer A, Coste J, Pereira B, Feschet F, Roche B, Boespflug-Tanguy O. Time-course of myelination and atrophy on cerebralimaging in 35 patients with PLP1-related disorders. Dev Med Child Neurol. 2016Jul;58(7):706-13. doi: 10.1111/dmcn.13025.
  7. Torii T, Miyamoto Y, Yamauchi J, Tanoue A. Pelizaeus-Merzbacher disease:cellular pathogenesis and pharmacologic therapy. Pediatr Int. 2014Oct;56(5):659-66. doi: 10.1111/ped.12450. Review.
  8. Wolf NI, van Spaendonk RML, Hobson GM, Kamholz J. PLP1 Disorders. 1999 Jun 15 [updated 2019 Dec 19]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1182/
  9. Xie H, Feng H, Ji J, Wu Y, Kou L, Li D, Ji H, Wu X, Niu Z, Wang J, Jiang Y.Identification and functional study of novel PLP1 mutations in Chinese patientswith Pelizaeus-Merzbacher disease. Brain Dev. 2015 Sep;37(8):797-802. doi:10.1016/j.braindev.2014.11.007.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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