Clinical implications of genetic advances in Charcot–Marie–Tooth disease
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Reilly, M. M., Murphy, S. M. & Laura, M. Charcot–Marie–Tooth disease. J. Peripher. Nerv. Syst. 16, 1–14 (2011).
Ouvrier, R. What can we learn from the history of Charcot–Marie–Tooth disease? Dev. Med. Child. Neurol. 52, 405–406 (2010).
Davis, C. J., Bradley, W. G. & 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. 26, 311–349 (1978).
Houlden, H. et al. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. Neurology 71, 1660–1668 (2008).
Raeymaekers, P. et al. Duplication in chromosome 17p11.2 in Charcot–Marie–Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul. Disord. 1, 93–97 (1991).
Murphy, S. M. et al. Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J. Neurol. Neurosurg. Psychiatry 83, 706–710 (2012).
Cottenie, E. et al. Rapidly progressive asymmetrical weakness in Charcot–Marie–Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. Neuromuscul. Disord. 23, 399–403 (2013).
Houlden, H. et al. The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Neuromuscul. Disord. 19, 264–269 (2009).
Michell, A. W. et al. GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment. J. Neurol. Neurosurg. Psychiatry 80, 699–700 (2009).
Houlden, H. et al. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Brain 129, 411–425 (2006).
Saporta, A. S. et al. Charcot–Marie–Tooth disease subtypes and genetic testing strategies. Ann. Neurol. 69, 22–33 (2011).
Schouten, J. P. et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30, e57 (2002).
Rehm, H. L. Disease-targeted sequencing: a cornerstone in the clinic. Nat. Rev. Genet. 14, 295–300 (2013).
Lupski, J. R. et al. Whole-genome sequencing in a patient with Charcot–Marie–Tooth neuropathy. N. Engl. J. Med. 362, 1181–1191 (2010).
Landoure, G. et al. Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. Neurology 79, 192–194 (2012).
NHLBI Exome Sequencing Project (ESP). Exome Variant Server [online] .
Pitceathly, R. D. et al. Genetic dysfunction of MT-ATP6 causes axonal Charcot–Marie–Tooth disease. Neurology 79, 1145–1154 (2012).
Chaudhry, R. et al. Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. Muscle Nerve 47, 922–924 (2013).
Ishigami, N., Kondo, M. & Nakagawa, M. Case of Charcot–Marie–Tooth disease type 1A with increased cerebrospinal fluid proteins and nerve root hypertrophy [Japanese]. Rinsho Shinkeigaku 48, 419–421 (2008).
d'Ydewalle, C. et al. HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot–Marie–Tooth disease. Nat. Med. 17, 968–974 (2011).
Patzko, A. et al. Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Brain 135, 3551–3566 (2012).
Sereda, M. W., Meyer zu Horste, G., Suter, U., Uzma, N. & Nave, K. A. Therapeutic administration of progesterone antagonist in a model of Charcot–Marie–Tooth disease (CMT-1A). Nat. Med. 9, 1533–1537 (2003).
Garofalo, K. et al. Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. J. Clin. Invest. 121, 4735–4745 (2011).
Passage, E. et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot–Marie–Tooth disease. Nat. Med. 10, 396–401 (2004).
Burns, J. et al. Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. Lancet Neurol. 8, 537–544 (2009).
Micallef, J. et al. Effect of ascorbic acid in patients with Charcot–Marie–Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol. 8, 1103–1110 (2009).
Pareyson, D. et al. Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol. 10, 320–328 (2011).
Singer, M. A., Vernino, S. A. & Wolfe, G. I. Idiopathic neuropathy: new paradigms, new promise. J. Peripher. Nerv. Syst. 17 (Suppl. 2), 43–49 (2012).
Klein, C. J. et al. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat. Genet. 43, 595–600 (2011).
MacLeod, R. et al. Recommendations for the predictive genetic test in Huntington's disease. Clin. Genet. 83, 221–231 (2013).