Neurol. praxi. 2020;21(2):146-150 | DOI: 10.36290/neu.2020.062

Charcot-Marie-Toothdisease as the most common inherited neuropathy: a case report from our department

MUDr. Alžbeta Hlucháňová, MUDr. Michal Kozmon, doc. MUDr. Pavol Kučera, PhD., MUDr. Mário Lazar
Neurologické oddelenie UNB, Nemocnica sv. Cyrila a Metoda, Bratislava

Hereditary peripheral neuropathies represent a large group of genetic neurological diseases presenting with a heterogeneous clinical picture. We mainly think about these disorders at positive family history, presentation of chronic and progressive muscle weakness, atrophy of the limbs and by the presence of typical foot deformities appears. This article closely focuses on the most common hereditary neuropathy - Charcot-Marie-Tooth (CMT) disease and the accelerated progression of this disease in combination with chronic alcohol abuse in our patient's case report.

Keywords: hereditary neuropathy, Charcot-Marie-Tooth disease, demyelination, CMT1, genetics, alcohol abuse, vitamin C.

Published: June 2, 2020  Show citation

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Hlucháňová A, Kozmon M, Kučera P, Lazar M. Charcot-Marie-Toothdisease as the most common inherited neuropathy: a case report from our department. Neurol. praxi. 2020;21(2):146-150. doi: 10.36290/neu.2020.062.
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LMm_References

  1. Ambler Z, Bednařík J. Onemocnení PNS. Klinická neurologie - část speciální II. Praha: Triton 2010: 947-948 s.
  2. Arnold WD, Flanigan KM. A practical approach to molecular diagnostic testing in neuromuscular diseases. Phys Med RehabilClin N Am 2012; 23(3): 589-608. Go to original source... Go to PubMed...
  3. Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR. Charcot-Marie-Tooth disease and related-neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2002; 51: 190-201. Go to original source... Go to PubMed...
  4. Bouche P, Gherardi R, Cathala HP, Lhermitte F, Castaigne P. Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study. J NeurolSci. 1983; 61(3): 389-399. Go to original source...
  5. Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, Sumner CJ, Muntoni F, Piscosquito G, Ramchandren S, Shy R, Siskind CE, Yum SW, Moroni I, Pagliano E, Zuchner S, Scherer SS, Shy ME; Inherited Neuropathies Consortium. CMT subtypes and disease burden in patients enrolled in the inherited neuropathies consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry 2015; 86: 873-8. Go to original source... Go to PubMed...
  6. Gabreëls-Festen A, Wetering RV. Human nerve pathology caused by different mutational mechanisms of the PMP22 gene. Ann N Y AcadSci. 1999; 883: 336-343. Go to original source... Go to PubMed...
  7. Gess B, Schirmacher A, Boentert M, Young P. Charcot-Marie-Toothdisease: frequency of genetic subtypes in a German neuromuscular center population. Neuromuscul Disord 2013; 23: 647-51. Go to original source... Go to PubMed...
  8. Hoogendijk JE, Hensels GW, Gabreels-Festen AA, Gabreëls FJ, Janssen EA, de Jonghe P, Martin JJ, van Broeckhoven C, Valentijn LJ, Baas F. De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet 1992; 339: 1081-1082. Go to original source... Go to PubMed...
  9. Katona I, Wu X, Feely SM, Sottile S, Siskind CE, Miller LJ, Shy ME, Li J. PMP22 expression in dermal nerve myelin from patients with CMT1A. Brain 2009; 132(Pt 7): 1734-1740. Go to original source... Go to PubMed...
  10. Krajewski K, Turansky C, Lewis R, Garbern J, Hinderer S, Kamholz J, Shy ME. Correlation between weakness and axonal loss in patients with CMT1A. Ann N Y AcadSci. 1999; 883: 490-492. Go to original source... Go to PubMed...
  11. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991; 66(2): 219-232. Go to original source... Go to PubMed...
  12. Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996; 4: 25-33. Go to original source... Go to PubMed...
  13. Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laurà M, Radice D, Calabrese D, Hughes RA, Solari A; CMT-TRIAAL; CMT-TRAUK groups. CMT-TRIAAL; CMT-TRAUK groups. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind-randomised trial. LancetNeurol. 2011; 10(4): 320-328. Go to original source... Go to PubMed...
  14. Parmantier E, Braun C, Thomas JL, Peyron F, Martinez S, Zalc B. PMP-22 expression in the central nervous system of the embryonic mouse defines potential transverse segments and longitudinal columns. J Comp Neurol. 1997; 378(2): 159-172. Go to original source... Go to PubMed...
  15. Passage E, Norreel JC, Noack-Fraissignes P, Sanguedolce V, Pizant J, Thirion X, Robaglia-Schlupp A, Pellissier JF, Fontés M. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med. 2004; 10(4): 396-401. Go to original source... Go to PubMed...
  16. Patzkó A, Shy ME. Update on Charcot-Marie-Tooth disease. Curr Neurol Neurosci Rep. 2011; 11(1): 78-88. Go to original source... Go to PubMed...
  17. Raeymaekers P, Timmerman V, Nelis E, Van Hul W, De Jonghe P, Martin JJ, Van Broeckhoven C. HMSN Collaborative Research Group. Estimation of the size of the chromosome 17 p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). J Med Genet. 1992; 29(1): 5-11. Go to original source... Go to PubMed...
  18. Snipes GJ, Suter U, Welcher AA, Shooter EM. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol. 1992; 117(1): 225-238. Go to original source... Go to PubMed...
  19. Szigeti K, Nelis E, Lupski JR. Charcot-Marie-Tooth peripheral neuropathies and related disorders in: Scriver CR, Beaudet AL, Valle D, et al., eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill 2006.
  20. Thomas PK, Marques W Jr, Davis MB, Sweeney MG, King RH, Bradley JL, Muddle JR, Tyson J, Malcolm S, Harding AE. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain. 1997; 120(Pt 3): 465-478. Go to original source... Go to PubMed...
  21. Weis J, Brandner S, Lammens M, Sommer C, Vallat JM. Processing of nerve biopsies: a practical guide for neuropathologists. Clin Neuropathol. 2012; 31: 7-23. Go to original source... Go to PubMed...
  22. Werheid F, Azzedine H, Zwerenz E, Bozkurt A, Moeller MJ, Lin L, Mull M, Häusler M, Schulz JB, Weis J, Claeys KG. Under estimated associated features in CMT neuropathies: clinical indicators for the causative gene? Brain Behav. 2016; 6: e00451. Go to original source... Go to PubMed...




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