Charcot–Marie–Tooth disease

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De Jonghe P, Timmerman V, Ceuterick C et al: The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype. Brain 1999; 122 (Part 2): 281–290.

Szigeti K, Wiszniewski W, Saifi GM et al: Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics 2007; 8: 257–262.

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

Azzedine H, Bolino A, Taieb T 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 Genet 2003; 72: 1141–1153.

Szigeti K, 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.

Nelis E, Van Broeckhoven C, De Jonghe P et al: 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.

Boerkoel CF, Takashima H, Garcia CA et al: Charcot–Marie–Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2002; 51: 190–201.

Hoogendijk JE, Hensels GW, Gabreels-Festen AA et al: De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet 1992; 339: 1081–1082.

Nave KA, Sereda MW, Ehrenreich H : Mechanisms of disease: inherited demyelinating neuropathies – from basic to clinical research. Nat Clin Pract Neurol 2007; 3: 453–464.

Zuchner S, Vance JM : Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. Nat Clin Pract Neurol 2006; 2: 45–53.

Wise CA, Garcia CA, Davis SN et al: Molecular analyses of unrelated Charcot–Marie–Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet 1993; 53: 853–863.

Choi BO, Lee MS, Shin SH et al: Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot–Marie–Tooth neuropathy patients. Hum Mutat 2004; 24: 185–186.

Janssen EA, Kemp S, Hensels GW et al: Connexin32 gene mutations in X-linked dominant Charcot–Marie–Tooth disease (CMTX1). Hum Genet 1997; 99: 501–505.

Nicholson GA : Mutation testing in Charcot–Marie–Tooth neuropathy. Ann NY Acad Sci 1999; 883: 383–388.

Mostacciuolo ML, Righetti E, Zortea M et al: Charcot–Marie–Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families. Hum Mutat 2001; 18: 32–41.

Silander K, Meretoja P, Juvonen V et al: Spectrum of mutations in Finnish patients with Charcot–Marie–Tooth disease and related neuropathies. Hum Mutat 1998; 12: 59–68.

Bort S, Nelis E, Timmerman V et al: Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot–Marie–Tooth disease and hereditary neuropathy with liability to pressure palsies. Hum Genet 1997; 99: 746–754.

Leonardis L, Zidar J, Ekici A, Peterlin B, Rautenstrauss B : Autosomal dominant Charcot–Marie–Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation. Int J Mol Med 1998; 1: 495–501.

Mersiyanova IV, Ismailov SM, Polyakov AV et al: Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot–Marie–Tooth neuropathy patients. Hum Mutat 2000; 15: 340–347.

Marques Jr W, Freitas MR, Nascimento OJ et al: 17p duplicated Charcot–Marie–Tooth 1A: characteristics of a new population. J Neurol 2005; 252: 972–979.

Szigeti K, Garcia CA, Lupski JR : Charcot–Marie–Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med 2006; 8: 86–92.

Lupski JR, de Oca-Luna RM, Slaugenhaupt S et al: DNA duplication associated with Charcot–Marie–Tooth disease type 1A. Cell 1991; 66: 219–232.

Chance PF, Alderson MK, Leppig KA et al: DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993; 72: 143–151.

Zuchner S, Mersiyanova IV, Muglia M et al: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot–Marie–Tooth neuropathy type 2A. Nat Genet 2004; 36: 449–451.

Kijima K, Numakura C, Izumino H et al: Mitochondrial GTPase mitofusin 2 mutation in Charcot–Marie–Tooth neuropathy type 2A. Hum Genet 2005; 116: 23–27.

Verhoeven K, Claeys KG, Zuchner S et al: MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2. Brain 2006; 129: 2093–2102.

Lindeman E, Spaans F, Reulen J, Leffers P, Drukker J : Progressive resistance training in neuromuscular patients. Effects on force and surface EMG. J Electromyogr Kinesiol 1999; 9: 379–384.

Njegovan ME, Leonard EI, Joseph FB : Rehabilitation medicine approach to Charcot–Marie–Tooth disease. Clin Podiatr Med Surg 1997; 14: 99–116.

Mann DC, Hsu JD : Triple arthrodesis in the treatment of fixed cavovarus deformity in adolescent patients with Charcot–Marie–Tooth disease. Foot Ankle 1992; 13: 1–6.

Guyton GP, Mann RA : The pathogenesis and surgical management of foot deformity in Charcot–Marie–Tooth disease. Foot Ankle Clin 2000; 5: 317–326.

Backonja MM : Use of anticonvulsants for treatment of neuropathic pain. Neurology 2002; 59: S14–S17.

Szigeti K, Lupski JR : Hereditary Motor and Sensory Neuropathies; in: Rimoin DL, Connor JM, Pyeritz RE, Korf BR (eds): Principles and Practice of Medical Genetics, Philadelphia: Churchill Livingstone Elsevier, 2007.

Koller WC, Hristova A, Brin M : Pharmacologic treatment of essential tremor. Neurology 2000; 54: S30–S38.

Naumann R, Mohm J, Reuner U, Kroschinsky F, Rautenstrauss B, Ehninger G : Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity. Br J Haematol 2001; 115: 323–325.

Sereda MW, Meyer zu Horste 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: 1533–1537.

Passage E, Norreel JC, Noack-Fraissignes P et al: Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot–Marie–Tooth disease. Nat Med 2004; 10: 396–401.

Meyer zu Horste G, Prukop T, Liebetanz D, Mobius W, Nave KA, Sereda MW : Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy. Ann Neurol 2007; 61: 61–72.

Khajavi M, Shiga K, Wiszniewski W et al: Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet 2007; 81: 438–453.

Harding AE, Thomas PK : The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980; 103: 259–280.

Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA : Uniform slowing of conduction velocities in Charcot–Marie–Tooth polyneuropathy type 1. Neurology 1993; 43: 2664–2667.

Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA : Nerve conduction studies in Charcot–Marie–Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology 1993; 43: 1806–1808.

Bird TD, Kraft GH : Charcot–Marie–Tooth disease: data for genetic counseling relating age to risk. Clin Genet 1978; 14: 43–49.

Takashima H, Nakagawa M, Kanzaki A et al: Germline mosaicism of MPZ gene in Dejerine–Sottas syndrome (HMSN III) associated with hereditary stomatocytosis. Neuromuscul Disord 1999; 9: 232–238.

Shy ME, Blake J, Krajewski K et al: Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 2005; 64: 1209–1214.