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ISSN 2992-779X (Electronic)
ISSN 2007-6452 (Print)

2012, Number 2

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Investigación en Discapacidad 2012; 1 (2)

One look at Charcot-Marie-Tooth disease

Cortés CH, Magaña AJJ, Hernández HÓ, Ávalos FJA, Recillas MS, Leyva GN

Language: Spanish
References: 27
Page: 77-82
PDF size: 71.18 Kb.


ABSTRACT

Charcot-Marie-Tooth disease (CMT) is a group of common inherited neuropathies that affects the peripheral nervous system. The CMT has an important place among peripheral neuropathies, it is the most frequent in the world and its prevalence has been estimated in 1-2,500 people. The transmission of this neuropathy can be autosomal dominant, autosomal recessive or chromosome X-linked types. The CMT classification is performed on the basis of clinical criteria, electrophysiological, anatomopathological and genetic characteristics. A clinical variability and genetic heterogeneity is shown by the distinct CMT subtypes. The knowledge about the CMT pathogenesis has increased in the last years and, with the improvement in techniques of molecular biology, the discovery of more than 30 genes and loci associated to CMT has been possible. Given the hereditary nature of this neuropathy, correct diagnosis is of pivotal importance in order to give patients a suitable genetic counseling. Remarkably, novel animal models recently developed, reproducing clinical and genetic features of CMT, can be useful to create new therapies for the treatment of this disease, which unfortunately has no cure.


REFERENCES

  1. Zsigeti K and Lupsky JR. Charcot-Marie-Tooth disease. Eur J Hum Genet 2009; 17: 703-710.

  2. Palau F, Cuesta A, Pedrola L. Avances en la genética molecular de las neuropatías hereditarias. Rev Neurol 2002; 35 (3): 246-253.

  3. Banchs I, Casasnovas C, Alberti A, De Jorge L, Povedano M, Montero J et al. Diagnosis of Charcot-Marie-Tooth disease. J Biomed Biotechnol 2009; 2009: 985415. Epub 2009 Oct 8.

  4. Burgunder JM, Schöls L, Baets J, Andersen P, Gasser T, Szolnoki Z et al. EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders. Eur J Neurol 2011; 18 (2): 207-217.

  5. Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 2011; 69 (1): 22-33.

  6. Newman CJ, Walsh M, O’Sullivan R, Jenkinson A, Bennet D, Lynch B et al. The characteristics of gait in Charcot-Marie-Tooth disease types I and II. Gait Posture 2007; 26 (1): 120-127.

  7. Berciano J, Sevilla T, Casasnovas C, Sivera R, Vilchez JJ, Infante J et al. Guía Diagnóstica en el paciente con enfermedad de Charcot-Marie-Tooth. Neurologia 2011; doi:10.1016/j.nrl.2011.04.015.

  8. Patzcó A, Shy ME. Update on Charcot-Marie-Tooth disease. Curr Neurol Neurosci Rep 2011; 11 (1): 78-88.

  9. Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 1997; 120 (5): 813-823.

  10. Nodera H, Bostock H, Kuwabara S, Sakamoto T, Asanuma K, Jia-Ying S et al. Nerve excitability properties in Charcot-Marie-Tooth disease type 1A. Brain 2004; 127 (Pt 1): 203-211.

  11. Hanemann CO, D’Urso D, Gabreëls-Festen AA, Müller HW. Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A. Brain 2000; 123 (Pt 5): 1001-1006.

  12. D’Urso D, Prior R, Greiner-Petter R, Gabreëls-Festen AA, Müller HW. Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22. J Neurosci 1998; 18 (2): 731-740.

  13. Kochanski A. How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases? J Appl Genet 2006; 47 (3): 255-260.

  14. Dubourg O, Tardieu S, Birouk N, Gouider R, Léger JM, Maisonobe T et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain 2001; 124 (Pt 10): 1958-1967.

  15. Gallardo E, García A, Combarros O, Berciano J. Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles. Brain 2006; 129 (Pt 2): 426-437.

  16. Chen SR, Lin KP, Kuo HC, Chen CM, Hsieh ST, Lee MJ et al. Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese. Clin Neurol Neurosur 2008; 110 (5): 466-471.

  17. Choi JR, Lee WH, Sunwoo IN, Lee EK, Lee CH, Lim JB. Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies. Yonsei Med J 2005; 46 (3): 347-352.

  18. Fischer C, Trajanoski S, Papić L, Windpassinger C, Bernert G, Freilinger M et al. SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. J Neurol 2011; doi:10.1007/s00415-011-6213-8.

  19. Lorentzos P, Kaiser T, Kennerson ML, Nicholson GA. A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR. Genet Test 2003; 7 (2): 135-138.

  20. Ruiz-Ponte C, Carracedo A, Barros F. Duplication and deletion analysis by fluorescent real-time PCR-based genotyping. Clin Chim Acta 2006; 363 (1-2): 138-146.

  21. Stangler-Herodez S, Zagradisnik B, Erjavec SA, Zagorac A, Kokalj VN. Molecular diagnosis of PMP22 gene duplications and deletions: comparison of different methods. J Int Med Res 2009; 37 (5): 1626-1631.

  22. Burns J, Ramchandren S, Ryan MM, Shy M, Ouvrier RA. Determinants of reduced health-related quality of life in pediatric inherited neuropathies. Neurology 2010; 75 (8): 726-731.

  23. Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L et al. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomized trial. Lancet Neurol 2011; 10 (4): 320-328.

  24. Myers JK, Mobley CK, Sanders CR. The peripheral neuropathy-linked Trembler and Trembler-J mutant forms of peripheral myelin protein 22 are folding-destabilized. Biochemistry 2008; 47 (40): 10620-10629.

  25. Huxley C, Passage E, Robertson AM, Youl B, Huston S, Manson A et al. Correlation between varying levels of PMP22 expression and the degree of dysmyelination and reduction in nerve conduction velocity in transgenic mice. Hum Mol Genet 1998; 7 (3): 449-458.

  26. Niemann S, Sereda MW, Rossner M, Stewart H, Suter U, Minck HM et al. The “CMT rat”: peripheral neuropathy and dysmyelination caused by transgenic overexpression of PMP22. Ann N Y Acad Sci 1999; 883: 254-261.

  27. Niemann S, Sereda MW, Suter U, Griffiths IR, Nave KA. Uncoupling of myelin assembly and Schwann cell differentiation by transgenic overexpression of peripheral myelin protein 22. J Neurosci 2000; 20 (11): 4120-4128.




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