Fenótipos Raros de Neuropatia Hereditária

Charcot-Marie-Tooth Tipo 4

Autores

  • Francisco de Assis Aquino Gondim Neurologista, Doutor, Professor Adjunto da Universidade Federal do Ceará, Fortaleza, Ceará, Brasil.
  • Ítalo Sérgio Cavalcante Oliveira Graduando em Medicina da Universidade Federal do Ceará (UFC)/Fortaleza, Ceará, Brasil.
  • Davi Farias de Araújo gondimfranc@gmail.com
  • Florian Patrick Thomas Neurologista, Doutor, Professor Titular do Departamento de Neurologia e Psiquiatria da Saint Louis University, Saint Louis, Missouri, EUA.

DOI:

https://doi.org/10.34024/rnc.2014.v22.8121

Palavras-chave:

Desmielinização, Doença de Charcot-Marie-Tooth, Neuropatia Desmielinizante, Neuropatia Periférica

Resumo

Introdução. A Doença de Charcot-Marrie-Tooth (CMT) compre­ende um grupo geneticamente heterogêneo de neuropatias sensitivo­-motoras hereditárias autossômicas dominantes, recessivas e ligadas ao cromossomo X. Objetivo. O objetivo do presente trabalho é realizar uma revisão de literatura a respeito dos principais tipos de CMT4 (va­riantes desmielinizantes autossômicas recessivas de CMT). Método. Foi realizada uma ampla revisão de literatura buscando artigos origi­nais em inglês (ou pelo menos com resumo em inglês), com descrição das características clínicas, distribuição étnica e geográfica das diversas variantes de CMT4 através das ferramentas OMIM e pubmed da base de dados da NCBI. Resultados. Identificamos e descrevemos os genes, características clínicas, distribuição étnica e geográfica de 12 variantes de CMT4: A, B1, B2, B3, C, D, E, F, G, H, J e “L” (mutação do gene SURF, com nomenclatura ainda indefinida e aqui chamada de “CMT4L”). Conclusão. Conclui-se que CMT4, dada à herança au­tossômica recessiva, distribui-se mais comumente em grupos étnicos e regiões geográficas restritas, ao contrário dos outros subtipos de CMT. Apesar de extrema variabilidade, há tendência à presença de fenótipos de maior gravidade e sobreposição com as doenças de Déjèrine-Sottas (CMT3) e neuropatia hipomielinizante congênita (CHN).

Downloads

Não há dados estatísticos.

Métricas

Carregando Métricas ...

Referências

Thomas FP, Guergueltcheva V, Gondim FAA, Jordanova. Chapter 26: Charcot- Marie-Tooth diseases. In: Katirj B, Kaminski H, Ruff RL (eds). Neuromuscular Disorders in Clinical Practice. 2nd ed. New York: Springer, 2014, p.519-48.

Meretoja P, Silander K, Kalimo H, Aula P, Meretoja A, Savontaus ML. Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. Neuromuscul Disord 1997;7:529-32. http://dx.doi.org/10.1016/S0960-8966(97)00100-4

Emery AE. Population frequencies of inherited neuromuscular diseases – a world survey. Neuromuscul Disord 1991;1:19-29. http://dx.doi.org/10.1016/0960-8966(91)90039-U

Kurihara S, Adachi Y, Wada K, Awaki E, Harada H, Nakashima K. An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan. Neuroepidemiology 2002;21:246-50. http://dx.doi.org/10.1159/000065643

Charcot JM. Sur une forme particulaire d’atrophie musculaire progressive souvent familial debutant par les pieds et les jambes et atteingnant plus tard les mains. Rev Med 1886;6:97-138.

Tooth HH. The peroneal type of progressive muscular atrophy. London: HK Lewis, 1886.

Déjèrine H, Sottas J. Sur la nevrite interstitielle, hypertrophique et progressive de l’enfance. CR Soc Biol (Paris) 1893;45:63-96.

Roussy G, Levy G. A sept cas d’une maladie familiale particulaire. Rev Neurol 1926;33:427-50.

Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 1968;18:603-18.

Bradley W, Madrid R, Davis CJ. The peroneal muscular atrophy syndrome. Clinical genetic, electrophysiological and nerve biopsy studies. Part 3. Clinical, electrophysiological and pathological correlations. J Neurol Sci 1977;32:123-36. http://dx.doi.org/10.1016/0022-510X(77)90043-0

Allan W. Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy. Arch Intern Med 1939;63:1123-31. http://dx.doi.org/10.1001/archinte.1939.00180230108008

Phillips II LH, Kelly TE, Schnatterly P, Parker D. Hereditary motor-sensory neuropathy (HMSN): possible X-linked dominant inheritance. Neurology 1985;35:498-502. http://dx.doi.org/10.1212/WNL.35.4.498

Lupski JR, de Oca-Luna RM, Slaugenhaupt S. DNA duplication associated with Charcot-Marie-Tooth Disease Type 1A. Cell 1991;66:219-32. http://dx.doi.org/10.1016/0092-8674(91)90613-4

Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk J E, Baas F, et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1991;1:93-7. http://dx.doi.org/10.1016/0960-8966(91)90055-W

Braathen GJ. Genetic epidemiology of Charcot-Marie-Tooth disease. Acta Neurol Scand Suppl 2012;193:4-22.

Tazir M, Bellatache M, Nouioua S, Vallat JM. Autosomal recessive Charcot- Marie-Tooth disease: from genes to phenotypes. J Peripher Nerv Syst 2013;18:113-29. http://dx.doi.org/10.1111/jns5.12026

Gondim FAA, Oliveira GR, Thomas FP. Hereditary Neuropathies of the Charcot-Marie-Tooth Disease Type. (Internet Address). Medscape (lat update2/ 2012; accessed: 2013). Available in: http://emedicine.medscape.com/article/1173484-overview

Gondim FA, Thomas FP. Charcot-Marie-Tooth disease: CMT2, CMT4 and others. In: Gilman S (ed). Medlink Neurology. 4th ed. (Internet Address).

San Diego: MedLink Corporation (last update: 11/12; accessed 2013). Available at: www.medlink.com

Gondim FA, Thomas FP. Charcot-Marie-Tooth disease type 1A. In: Gilman S (ed.). Medlink Neurology. 4th ed. (Internet Address). San Diego: MedLink Corporation (last update 07/2013; accessed 2013). Available at: www. medlink.com

Shy ME, Lupski JR, Chance PF, Klein CJ, Dyck PJ. Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. In: Dyck PJ, Thomas PK, editors. Peripheral neuropathy, 4th edition. Philadelphia: Elsevier Saunders 2005, p.1623-58.

Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, et al. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 2002;59:1865-72. http://dx.doi.org/10.1212/01.WNL.0000036272.36047.54

Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 2002; 30:3021-2. http://dx.doi.org/10.1038/ng796

Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, et al. CMT4A: identification of a Hispanic GDAP1 founder mutation. Ann Neurol 2003;53:400-5. http://dx.doi.org/10.1002/ana.10505

Cuesta A, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, et al. The gene encoding ganglioside-induced differentiation-associatedprotein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 2002;30:22-5. http://dx.doi.org/10.1038/ng798

Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet 2005;14:1087-94. http://dx.doi.org/10.1093/hmg/ddi121

Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, et al. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain 2003;126:642-9. http://dx.doi.org/10.1093/brain/awg068

Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD, et al. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet 1993;2:1625-8. http://dx.doi.org/10.1093/hmg/2.10.1625

Baránková L, Vyhnálková E, Züchner S, Mazanec R, Sakmaryová I, Vondrácek P, et al. GDAP1 mutations in Czech families with early-onset CMT. Neuromuscul Disord 2007;17:482-9. http://dx.doi.org/10.1016/j.nmd.2007.02.010

Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, et al. Clinical, electrophysiological and morphological findings of Charcot-Marie- -Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 2003;126:1-11. http://dx.doi.org/10.1093/brain/awg202

Sevilla T, Jaijo T, Nauffal D, Collado D, Chumillas MJ, Vilchez JJ, et al. Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain 2008;131(Pt 11):3051-61.

Crimella C, Tonelli A, Airoldi G, Baschirotto C, D’Angelo MG, Bonato S, et al. The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K. J Med Genet 2010;47:712-6. http://dx.doi.org/10.1136/jmg.2010.077909

Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 2000;25:17-9. http://dx.doi.org/10.1038/75542

Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, et al. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet 1996;5:1051-4. http://dx.doi.org/10.1093/hmg/5.7.1051

Quattrone A, Gambardella A, Bono F, Aguglia U, Bolino A, Bruni AC, et al. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. Neurology 1996;46:1318-24. http://dx.doi.org/10.1212/WNL.46.5.1318

Gambardella A, Bolino A, Muglia M, Valentino P, Bono F, Oliveri RL, et al. Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). Neurology 1998;50:799-801. http://dx.doi.org/10.1212/WNL.50.3.799

Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, et al. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Gen 2003;72:1141-53. http://dx.doi.org/10.1086/375034

Downloads

Publicado

2014-03-31

Como Citar

Gondim, F. de A. A., Oliveira, Ítalo S. C., Araújo, D. F. de, & Thomas, F. P. (2014). Fenótipos Raros de Neuropatia Hereditária: Charcot-Marie-Tooth Tipo 4. Revista Neurociências, 22(1), 84–94. https://doi.org/10.34024/rnc.2014.v22.8121

Edição

Seção

Revisão de Literatura
Recebido: 2019-02-15
Publicado: 2014-03-31

Artigos mais lidos pelo mesmo(s) autor(es)