腓骨肌萎缩症

Saporta AS, Sottile SL, Miller LJ, et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011 Jan;69(1):22-33.

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Shy M, Lupski JR, Chance PF, et al. The hereditary motor and sensory neuropathies: an overview of the clinical, genetic, electrophysiologic and pathologic features. In: Dyck PJ, ed. Peripheral neuropathy. Vol 2. 4th ed. Philadelphia, PA: WB Saunders; 2005:1623-58.

Shy ME, Blake J, Krajewski K, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology. 2005 Apr 12;64(7):1209-14.

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England JD, Gronseth GS, Franklin G, et al. Practice parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Neurology. 2009 Jan 13;72(2):185-92.

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Shy ME, Chen L, Swan ER, et al. Neuropathy progression in Charcot-Marie-Tooth disease type 1A. Neurology. 2008;70:378-383.

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1.  Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet. 1974;6(2):98-118.

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2.  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(1):25-33.

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3.  Lawson VH, Graham BV, Flanigan KM. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology. 2005 Jul 26;65(2):197-204.

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4.  Dubourg O, Tardieu S, Birouk N, et al. The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity. Neuromuscul Disord. 2001 Jul;11(5):458-63.

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5.  Meretoja P, Silander K, Kalimo H, et al. Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. Neuromuscul Disord. 1997 Dec;7(8):529-32.

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6.  Saporta AS, Sottile SL, Miller LJ, et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011 Jan;69(1):22-33.

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7.  Shy M, Lupski JR, Chance PF, et al. The hereditary motor and sensory neuropathies: an overview of the clinical, genetic, electrophysiologic and pathologic features. In: Dyck PJ, ed. Peripheral neuropathy. Vol 2. 4th ed. Philadelphia, PA: WB Saunders; 2005:1623-58.

8.  Shy ME, Blake J, Krajewski K, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology. 2005 Apr 12;64(7):1209-14.

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9.  Murphy SM, Herrmann DN, McDermott MP, et al. Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011 Sep;16(3):191-8.

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10.  Hoogendijk JE, Hensels GW, Gabreels-Festen AA, et al. De-novo mutation in hereditary motor and sensory neuropathy type 1. Lancet. 1992 May 2;339(8801):1081-2.

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11.  Chung KW, Kim SB, Park KD, et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain. 2006 Aug;129(Pt 8):2103-18.

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12.  England JD, Gronseth GS, Franklin G, et al. Practice parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Neurology. 2009 Jan 13;72(2):185-92.

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13.  Szigeti K, Garcia CA, Lupski JR. Charcot Marie Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med. 2006 Feb;8(2):86-92.

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14.  Borry P, Stultiens L, Nys H, et al. Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin Genet. 2006 Nov;70(5):374-81.

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15.  El Mhandi L, Millet GY, Calmels P, et al. Benefits of interval-training on fatigue and functional capacities in Charcot-Marie-Tooth disease. Muscle Nerve. 2008 May;37(5):601-10.

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16.  Karas MA, Hoy DJ. Compensatory midfoot dorsiflexion in the individual with heelcord tightness: implications for orthotic device designs. JPO. 2002;14:82-93.

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17.  Rose KJ, Burns J, Wheeler DM, et al. Interventions for increasing ankle range of motion in patients with neuromuscular disease. Cochrane Database Syst Rev. 2010;(2):CD006973.

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18.  Ward CM, Dolan LA, Bennett DL, et al. Long-term results of reconstruction for treatment of a flexible cavovarus foot in Charcot-Marie-Tooth disease. J Bone Joint Surg Am. 2008 Dec;90(12):2631-42.

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19.  Guyton GP, Mann RA. The pathogenesis and surgical management of foot deformity in Charcot-Marie-Tooth disease. Foot Ankle Clin. 2000 Jun;5(2):317-26.

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20.  Sheth S, Francies K, Siskind CE, et al. Diabetes mellitus exacerbates motor and sensory impairment in CMT1A. J Peripher Nerv Syst. 2008 Dec;13(4):299-304.

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21.  Burns J, Landorf KB, Ryan MM, et al. Interventions for the prevention and treatment of pes cavus. Cochrane Database Syst Rev. 2007;(4):CD006154.

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22.  Attarian S, Vallat JM, Magy L, et al. An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone, and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A. Orphanet J Rare Dis. 2014 Dec 18;9:199.

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23.  ClinicalTrials.gov. Phase III trial assessing the efficacy and safety of PXT3003 in CMT1A patients (PLEO-CMT): NCT02579759. January 2018 [internet publication].

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24.  Zhao HT, Damle S, Ikeda-Lee K, et al. PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models. J Clin Invest. 2018 Jan 2;128(1):359-68.

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25.  Shy ME, Chen L, Swan ER, et al. Neuropathy progression in Charcot-Marie-Tooth disease type 1A. Neurology. 2008;70:378-383.

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