Hereditary Neuropathy

Česká verzia

Authors: R. Mazanec ¹; O. Horáček ²; A. Kobesová ²; P. Smetana ³
Authors place of work: Neurologická klinika 2. LF UK a FN v Motole, Praha ¹; Rehabilitační klinika 2. LF UK a FN v Motole, Praha ²; II. ortopedická klinika 2. LF UK a F N v Motole, Praha ³
Published in the journal: Cesk Slov Neurol N 2009; 72/105(1): 5-17
Category: Minimonography

Summary

Hereditary neuropathy is a clinically and genetically heterogeneous group of diseases which most often represent a hereditary neuromuscular disorder. The prevalence is approximately 17– 40 per 100,000. The most frequent form is called Charcot‑ Marie‑ Tooth disease (CMT) or hereditary motor and sensitive neuropathy (HMSN). In most cases, the clinical symptoms appear in the 1st and 2nd decade and include atrophy and weakness of lower limb muscles (peroneal atrophy), the pes cavus deformity of the foot with a shortened Achilles tendon, areflexia in the lower limbs and the stocking type sensory disorder. The basic classification of hereditary neuropathies is based on electrophysiological studies which classify CMT disease into two basic types. Type no. 1 – demyelinisation – with the n. medianus motor fibre conducti on velocity at fore arm below 38 m/ s, and type no. 2 – axonal – with a velocity above 38 m/ s. Molecular geneticists have so far identified causal mutations in 40 genes and have made a major contribution to molecular genetic classification of CMT disease and to the understanding of pathogenesis of the most frequent forms of hereditary neuropathies. Heredity involves all types of monogenic Mendelian inheritance: autosomal dominant, autosomal recessive and gonosomal dominant. Because causal therapy does not exist, current therapeutic approach is based on rehabilitation, prosthetic and orthopedic tre atment. In a vast majority of cases, the prognosis of patients is good as this condition does not impair their standard life expectancy, even though it has a major impact on the patients’ quality of life.

Key words:
hereditary neuropathy – Charcot-Marie-Tooth – pes cavus – electromyography – molecular genetics

Zdroje

1. Charcot JM, Marie P. Sur une forme particuliere d’atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev Med (Paris) 1886; 6: 97–138.

2. Tooth HH. The Peroneal Type of Progressive Muscular Atrophy. London: H. K. Lewis and Co 1886.

3. Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK,Griffin JW, Low PA, Poduslo JF (eds). Peripheral Neuropathy. 3rd ed. Philadelphia: WB Saunders 1993: 1094–1136.

4. Davis CJ, Bradley WG, Madrid R. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum 1978; 26(4): 311–349.

5. Shapiro BE, Hannibal MC, Chance PF. Charcot/Marie/Tooth disease and related disorders. In: Kimura J. Peripheral Nerve Diseases. 7th ed. Amsterdam: Elsevier 2006: 743–769.

6. Dyck PJ, Karnes JL, Lambert EH. Longitudinal study of neuropathic deficit and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1. Neurology 1989; 39(10): 1302–1308.

7. Lupski JR, deOca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991; 66(2): 219–232.

8. Seeman P, Mazanec R, Marikkova T, Rautenstrauss B.Charcot-Marie-Tooth 1A: Heterozygous T118M Mutation over a CMT 1A Duplication Has No Influence on the Phenotype. Ann N Y Acad Sci 1999; 883: 485–489.

9. Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N et al. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet 1993; 5(1): 31–34.

10. Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J et al. Phenotypic clustering in MPZ mutations. Brain 2004; 127(2): 371–384.

11. Seeman P, Mazanec R, Horáček O, Svobodová V, Ridzoň P, Beneš V jr et al. Divergentní fenotypy choroby CMT: demyelinizační s infantilním začátkem a axonální s pozdním začátkem a zpomalenou fotoreakcí následkem různých mutací P0 genu. Cesk Slov Neurol N 2004; 67/100: 321–329.

12. Horacek O, Mazanec R, Morris CE, Kobesova A. Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients. Spine 2007; 32(22): 2502–2508.

13. Street VA, Bennett CL, Goldby JD, Shirk AJ, Kleopa KA,Tempel BL. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 2003; 60(1): 22–26.

14. Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG et al. Mutations in the early growth response 2 (EGR2) gene are associatesd with hereditary myelinopathies. Nat Genet 1998; 18(4): 382–384.

15. Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2002; 51(2): 190–201.

16. Mikesová E, Hühne K, Rautenstrauss B, Mazanec R,Baránková L, Vyhnálek M et al. Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. Neuromuscul Disord 2005; 15(11): 764–767.

17. Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993; 72(1): 143–151.

18. Harding AE, Thomas PK. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet 1980; 17(5): 329–336.

19. Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004; 36(5): 449–451.

20.Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM et al. Mutations in the small GTP ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 2003; 72(3): 722–727.

21. Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB et al. A new variant of Charcot-Marie-Tooth disease type 2m is probably the result of a mutation in the neurofilament light gene. Am J Hum Genet 2000; 67(1): 37–46.

22. Jordanova A, De Jonghe P, Boerkoel CF, Takashima H,De Vriendt E, Ceuterick C et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 2003; 126(3): 590–597.

23. Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Goudier R et al. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med 2006; 8(1–2): 75–86.

24. 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(1): 21–22.

25. Bernard R, De Sandre Giovannoli A, Delague V, Lévy N. Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies. Neuromolecular Med 2006; 8(1–2): 87–106.

26. Zhang X, Chow YC, Sahenk Z, Shy ME, Meisler HM,Li J. Mutation of FIG4 causes a rapidly progressive asymmetric neuronal degeneration. Brain 2008; 131(8): 1990–2001.

27. Seeman P, Mazanec R, Baránková L, Laššutová P, Haberlová J, Sakmaryová I et al. Analýza genu pro Lamin A/C (LMNA) u pacientů a rodin s autosomálně recesivním, axonálním typem dědičné neuropatie AR CMT2. Závěrečná zpráva grant IGA NR 8330–3 2007.

28. Silander K, Meretoja P, Juvonen V, Ignatius J, Pihko H,Saarinen A et al. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. Hum Mutat 1998; 12(1): 59–68.

29. Bergoffen J, Scherer SS, Wang S, Scott MP, Bone LJ, Paul DL et al. Connexin mutations in X linked Charcot-Marie-Tooth disease. Science 1993; 262(5142): 2039–2042.

30. Bergoffen J, Trofatter J, Pericak-Vance MA, Haines J, Chance PF, Fischbeck KH. Linkage localization OF X linked Charcot-Marie-Tooth disease. Am J Hum Genet 1993; 52(2): 312–318.

31. Nicholson G, Corbett A. Slowing of central conduction in X linked Charcot-Marie-Tooth neuropathy shown by brainstem auditory evoked responses. J Neurol Neurosurg Psychiatry 1996; 61(1): 43–46.

32. Seeman P, Mazanec R, Ctvrtecková M, Smilková D. Charcot-Marie-Tooth type X:A novel mutation in the Cx32 gene with central conduction slowing. Int J Mol Med 2001; 8(4): 461–468.

33. Davis CJ, Bradley WG, Madrid R. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum 1978; 26(4): 311–349.

34. Madrid R, Bradley WG, Davis CJ. The peronel muscula atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies. J Neurol Sci 1977; 32(1): 91–122.

35. Harding AE, Thomas PK. Hereditary distal spinal muscular atrophy. A report on 34 cases and a review on the literature. J Neurol Sci 1980; 45(2–3): 337–348.

36. Evgrafov OV, Mersiyanova IV, Irobi J, Van Den Bosch L, Dierick I, Leung CL et al. Mutant small heat shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 2004; 36(6): 602–606.

37. Antonellis A, Ellsworth LE, Sambhuugin N, Puls I,Abel A, Lee-Lin SQ et al. Glycyl tRNA synthetase in Charcot-Marie-Tooth disease 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003; 72(5): 1293–1299.

38. Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E et al. Mutant dynactin in motor neuron disease. Nat Genet 2003; 33(4): 455–456.

39. Auer-Grumbach M, De Jonghe P, Wagner K, Verhoeven K, Hartung HP, Timmerman V. Phenotype-genotype correlations in a CMT 2B family with refined 3q13-q22 locus. Neurology 2000; 55(10): 1552–1557.

40. Auer-Grumbach M, Wagner M, Timmerman V, De Jonghe P, Hartung HP. Ulcero mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. Neurology 2000; 54(1): 45–52.

41. Dawkins JL, Hulme D, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA. Mutations in SPTLC1, encoding serin palmitoyltransferase long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 2001; 27(3): 309–312.

42. Kobesová A, Mazanec R. Pohybové aktivity pacientů trpících dědičnou polyneuropatií. Cesk Slov Neurol N 2008; 71/104(3): 277–284.

43. Kobesová A, Smetana P, Suzan J, Smetana V, Baránková L, Horáček O. Zásady protetické péče u pacientů s hereditární motoricko senzorickou neuropatií (HMSN). Rehabil a fyz lék 2004; 4: 169–175.

44. Kobesová A, Horáček O, Mazanec R, Smetana P, Truc M, Bojar M. Dědičná neuropatie – mezioborová diagnóza. Postgraduální medicína 2007; 9(1): 139–147.

45. Smetana P, Teyssler P, Smetana V, Kobesová A, Horáček O, Mazanec R et al. Možnosti a indikace ortopedické léčby u onemocnění Charcot-Marie-Tooth (CMT). Postgraduální medicína 2008; 10(8): 880–885.

46. Schejbalová A, Smetana V. Vlastní zkušenosti s léčbou vrozeného pes equinovarus. Cesk Pediatr 1993; 48(12): 701–706.

47. Dwyer FC. The present status of the problem of pes cavus. Clin Orthop 1975; 106: 254–275.

48. Kaya F, Belin S, Micallef J, Blin O, Fontés M. Analysis of the benefits of vitamin cocktails in treating Charcot-Marie-Tooth disease type 1A. Musile Nerve 2008; 38(2): 1052–1054.

49. Sereda MW, Meyer zu Hörste G, Suter U, Uzma N, Nave KA. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT 1A). Nat Med 2003; 9(12): 1533–1537.

50. Massicotte C, Scherer SS. Neuropathies: Translating Causes into Treatments. In: Waxman SG et al (eds). Neuroscience, Molecular Medicine and the Therapeutic Transformation of Neurology. Elsevier Science Boston USA 2004: 401–414.

51. Gravel C, Götz R, Lorrain A, Sendtner M. Adenoviral gene transfer of ciliary neurotrophic factor and brain derived neurotrophic factor leads to long term survival of axotomized motor neurons. Nat Med 1997; 3(7): 765–770.

52. Passage E, Norreel JC, Noack-Fraissignes P, Sanguedolce V, Pizant J, Thirion X. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med, 2004; 10(4): 396–401.

53. Fontès M. L’acide ascorbique un médicamentde premiére génération pour la maladie de Charcot-Marie-Tooth de type 1A. Med Sci (Paris) 2004; 20(10): 843–844.

54. Perea J, Robertson A, Tolmachova T, Muddle J,King RH, Ponsford S et al. Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth type 1A. Hum Mol Genet 2001; 10(10): 1007–1018.

55. Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, Li J et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 2005; 64(7): 1209–1214.