Charcot-Marie-Tooth’s disease: current classification and clinical features
Abstract
In this article consider classification and clinical features of Charcot-Marie-Tooth disease depending on the affection gene and inheritance type are presented.
About the Author
P. I. GurievaRussian Federation
References
1. Illarioshkin S.N. DNA-testing and medikogenetic consultation in neurology / S.N.Illarioshkin – 2002. – М: Medical information agency. – P. 591.
2. Hereditary neuropathy with liability to pressure palsies / S.N.Illarioshkin [et al.] // Neurol. Magazine. - 1998. – №4. – P. 8-12.
3. Hereditary motor sensory polineuropathies type 4А / O.A.Shagina [et al.] // Magazine of Neurology and psychiatry. – 2010. - №5. – P. 13-16.
4. New allelic variant hereditary motor sensory neuropathia IIА type in the Udmurt family / O.A.Shagina [etc.] // Medical genetics. – 2007. - №3. – P.33-37.
5. Features of clinical displays and algorithms of molecular-genetic diagnostics of genetically heterogeneous variants hereditary motor sensory polineuropathies / O.A.Shagina [etc.] // Molecularbiological technologies in medical practice. The collection of proceedings. –– Novosibirsk: the Alpha of Whist Н – P, 2009. – V. 13. -183-193.
6. Tiburkova T.V. research of gene GJB1 in sample of the Russian patients with hereditary motor sensory neuropathia type I / T.V.Tiburkova, O.A.Shagina, E.L.Dadali // Medical genetics. – 2009. - №7. – P. 30-38.
7. Sharkova I.V. Hereditary motor sensory neuropathia IX type / I.V.Sharkova, E.L.Dadali, A.V.Poljakov, N.V.Baryshnikova // Medical genetics. – 2004. - №.3. –P. 113-118.
8. Schneider N.A. Estimation of quality of life of patients with hereditary neuropathies CharkoMarie-Tooth in Krasnoyarsk region / N.A.Shnaider, E.V.Glushenko, E.A.Kozulina // the Bulletin of the Siberian medicine. – 2011. - №2. – P. 57-62.
9. Schneider N.A. Hereditary neuropathia – heterogeneous group of genetically determined diseases of peripheral nervous system / N.A.Shnaider, E.V.Glushchenko // the Bulletin of clinical hospital.- 2009. -№51.-P.19-22.
10. Bertorini T. Charcot-Marie-Tooth Disease (Hereditary Motor Sensory Neuropathies) and Hareditary Sensory and Autonomic Neuropathies / T.Bertorini, P.Narayanaswami, H.Rashed // The neurologist. – 2004. – V.10. – P. 327-337.
11. Charcot-Marie-Tooth Disease in Cyprus: Epidemiological, Clinical and Genetic Characteristics / P.Nicolaou [et al.] // Neuroepidemiology. – 2010. –V.35. – P. 171-177.
12. Charcot-Marie-Tooth Disease Sybtypes and Genetic Testing Strategies / A.S.D.Saporta [et al.] // Ann. Neurol. – 2011. – V.69. – P. 22-33.
13. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene / K.Hayasaka [et al.] // Nat. Genet. – 1993. – V.5. – P.31-34.
14. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta / C.Zhao [et al.] // Cell. – 2001. – V.105, №5. – P. 587-597.
15. DNA duplication associated with CharcotMarie-Tooth desease type 1A / J.R.Lupski [et al.] // Cell. – 1991. – V. 66. – P. 219-232.
16. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations / K.W.Chung [et al.] // Brain.- 2006.-V.129.-P.2103-2118.
17. Epidemiology of Charcot-Marie-Tooth Disease in the Population of Belgrade, Serbia / J.Mladenovic [et al.] // Neuroepidemiology. – 2011. – V.36. – P. 177-182.
18. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect / R.Claramunt [et al.] // J Med Genet.-2005.-V.42.-P.358-365.
19. http://www.ncbi.nlm.nih.gov/omim
20. Mutation of putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C / V.A.Street [et al.] // Neurology. – 2003. – V.60. – P.22-26.
21. Mutations in the early growth response 2 (EGR2) gene is associated with hereditary myelinopathies / L.E.Warner [et al.] // Nat. Genet. – 1998. – V.18. – P.382-384.
22. Pareyson D. Clinical and Electrophysiological Aspects of Charcot-Marie-Tooth Disease / D.Pareyson, V.Scaioli, M.Laura // NeuroMolecular Medicine. – 2006. – V.8. – P. 3-22.
Review
For citations:
Gurieva P.I. Charcot-Marie-Tooth’s disease: current classification and clinical features. Yakut Medical Journal. 2012;(2):92-96.









