medigraphic.com
Instituto Nacional de Neurología y Neurocirugía

2017, Number 4

<< Back Next >>

Arch Neurocien 2017; 22 (4)

Pelizaeus Merzbacher syndrome: brief review of the literature

Ramos-Raudry E, Dávila-Ortiz de Montellano DJ

Language: Spanish
References: 21
Page: 44-54
PDF size: 458.45 Kb.


ABSTRACT

Introduction: Myelin diseases have been described since the 19th century, leucodsitrophiaes are a heterogeneous group of diseases, of progressive course, that can manifest a wide range of symptoms and complications, mostly of genetic aetiology, being Syndrome of Pelizaeuz Merzbacher, of inheritance linked to the X chromosome, the most frequent of these.
Objective: provide an up-to-date overview of the epscial demyelinating diseases of the Pelizaeuz Merzbacher syndrome.
Material and method: the most relevant articles considered by the authors were selected in PubMed; EBSCO; Thomson Reuters and OvidSP.
Results: Merzbacher Pelizaeuz Syndrome presents important clinical heterogeneity and unfortunately at the moment does not have an effective treatment, however new stem cell technologies provide opportunities for its treatment.


REFERENCES

  1. 1.Gordon HB, Letsou A, Bonkowsky JL. The leukodystrophies. Seminars in neurol 2014;34(3):312-20.

  2. 2.Kaye EM. Update on genetic disorders affecting white matter. Pediatric Neurol 2001;24(1):La11-24.

  3. 3.Inoue K. Brain atrophy in Pelizaeus-Merzbacher disease. Developmental Medicine Child Neurol 2016;58(7):653.

  4. 4.Hudson LD. Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. J Child Neurol 2003;18(9):616-24.

  5. 5.Hobson GM, Garbern JY. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. Seminars in Neurol 2012;32(1):62-7.

  6. 6.Yamamoto T, Shimojima K. Pelizaeus-Merzbacher disease as a chromosomal disorder. Congenital anomalies 2013;53(1):3-8.

  7. 7.Mierzewska H, Jamroz E, Mazurczak T, Hoffman D, Szczepanik E.Pelizaeus Merzbacher disease in patiens with molecularly confirmed diagnosis. Folia Neurophatol 2016;54(1):59-65.

  8. 8.Lee ES, Moon HK, Park YH, Garbern J, Hobson GM. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. J Neurol Scien 2004;224(1-2):83-7.

  9. 9.Xia J, Wang L. Pelizaeus-Merzbacher disease: molecular diagnosis and therapy. Intractable Rare Diseases Research 2013;2(3):103-5.

  10. 10.Torii T, Miyamoto Y, Yamauchi J, Tanoue A. Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy. Pediatrics International 2014;56(5):659-66.

  11. 11.Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, et al. The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: a multicenter study of 19 patients. Brain Development 2016;38(6):571-80.

  12. 12.Zittel S, Nickel M, Wolf NI, Uyanik G, Glaser D, Ganos C, et al. Pelizaeus-Merzbacher-like disease presenting as complicated hereditary spastic paraplegia. J Neurol 2012;259(11):2498-500.

  13. 13.Kamekura N, Nitta Y, Takuma S, Fujisawa T. General anesthesia for a patient with Pelizaeus- Merzbacher disease.Anesth Prog 2016;63:91-4.

  14. 14.Matsufuji M, Osaka H, Gotoh L, Shimbo H, Takashima S, Inoue K. Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2. Pediatric Neurol 2013;49(6):477-81.

  15. 15.Wight P. Effects of intron I sequences on Human PLPI Expression: implications for PLPI-related Disorders. ANS Neuro 2017:1-6.

  16. 16.Laukka J, Kamholz J, Bessert D, Skoff R. Novel pathologic findings in patiens with Pelizaeus- Merzbacher disease. Neurosci Lett 2016; 627:222-32.

  17. 17.Espinosa E, Mera P, Cote J. Clinica y diagnostico de la enfermedad de Pelizaeus-Merzbacher: descripción de 5 casos. Rev Neurol 2016;62(9): 411-4.

  18. 18.Laukka JJ, Stanley JA, Garbern JY, Trepanier A, Hobson G, Lafleur T, et al. Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease. J Neurolo Scien 2013;335(1-2):75-81.

  19. 19.Coticchia J, Roeder M, Zuliani G, Gow A, Garbern J. Auditory testing profiles of Pelizaeus-Merzbacher disease. Int J Pediatr Otorhinolaryngol 2011; Extra(6):23-9.

  20. 20.Osorio MJ, Rowitch DH, Tesar P, Wernig M, Windrem MS, Goldman SA. Concise review: stem cell based treatment of Pelizaeus-Merzbacher disease. Stem Cells 2017;35(2):311-5.

  21. Marteyn A, Baron A. Mini- Review Is Involvement of Inflammation Underestimated in Pelizaeus Merzbacher Disease?. J Neuroscien Res 2016;94:1572-8.




2020     |     www.medigraphic.com