Saporta MA. Charcot-Marie-Tooth disease and other inherited neuropathies. Continuum (Minneap Minn). 2014 Oct. 20 (5 Peripheral Nervous System Disorders):1208-25. [QxMD MEDLINE Link].
Pareyson D, Saveri P, Pisciotta C. New developments in Charcot-Marie-Tooth neuropathy and related diseases. Curr Opin Neurol. 2017 Oct. 30 (5):471-480. [QxMD MEDLINE Link].
Kazamel M, Boes CJ. Charcot Marie Tooth disease (CMT): historical perspectives and evolution. J Neurol. 2015. 262 (4):801-5. [QxMD MEDLINE Link].
Jani-Acsadi A, Ounpuu S, Pierz K, Acsadi G. Pediatric Charcot-Marie-Tooth disease. Pediatr Clin North Am. 2015 Jun. 62 (3):767-86. [QxMD MEDLINE Link].
Baets J, De Jonghe P, Timmerman V. Recent advances in Charcot-Marie-Tooth disease. Curr Opin Neurol. 2014 Oct. 27 (5):532-40. [QxMD MEDLINE Link].
Bird TD, Ott J, Giblett ER, Chance PF, Sumi SM, Kraft GH. Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I). Ann Neurol. 1983 Dec. 14 (6):679-84. [QxMD MEDLINE Link].
Carter GT, Abresch RT, Fowler WM Jr, Johnson ER, Kilmer DD, McDonald CM. Profiles of neuromuscular diseases. Hereditary motor and sensory neuropathy, types I and II. Am J Phys Med Rehabil. 1995 Sep-Oct. 74 (5 Suppl):S140-9. [QxMD MEDLINE Link].
Ruskamo S, Nieminen T, Kristiansen CK, Vatne GH, Baumann A, Hallin EI, et al. Molecular mechanisms of Charcot-Marie-Tooth neuropathy linked to mutations in human myelin protein P2. Sci Rep. 2017 Jul 26. 7 (1):6510. [QxMD MEDLINE Link]. [Full Text].
Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain. 2000 Jul. 123 ( Pt 7):1516-27. [QxMD MEDLINE Link]. [Full Text].
Suter U, Nave KA. Transgenic mouse models of CMT1A and HNPP. Ann N Y Acad Sci. 1999 Sep 14. 883:247-53. [QxMD MEDLINE Link].
Thomas PK. Overview of Charcot-Marie-Tooth disease type 1A. Ann N Y Acad Sci. 1999 Sep 14. 883:1-5. [QxMD MEDLINE Link].
Saporta MA, de Moraes Maciel R. Analysis of Myelinating Schwann Cells in Human Skin Biopsies. Methods Mol Biol. 2018. 1739:359-369. [QxMD MEDLINE Link].
Berciano J, Combarros O, Figols J, Calleja J, Cabello A, Silos I, et al. Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family. Brain. 1986 Oct. 109 ( Pt 5):897-914. [QxMD MEDLINE Link].
Elliott JL, Kwon JM, Goodfellow PJ, Yee WC. Hereditary motor and sensory neuropathy IIB: clinical and electrodiagnostic characteristics. Neurology. 1997 Jan. 48 (1):23-8. [QxMD MEDLINE Link].
Vance JM. Charcot-Marie-Tooth disease type 2. Ann N Y Acad Sci. 1999 Sep 14. 883:42-6. [QxMD MEDLINE Link].
Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, et al. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. Am J Hum Genet. 2018 Mar 1. 102 (3):505-514. [QxMD MEDLINE Link]. [Full Text].
Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD, et al. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet. 1993 Oct. 2 (10):1625-8. [QxMD MEDLINE Link].
Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet. 2000 May. 25 (1):17-9. [QxMD MEDLINE Link].
Agrahari AK, Sneha P, George Priya Doss C, Siva R, Zayed H. A profound computational study to prioritize the disease-causing mutations in PRPS1 gene. Metab Brain Dis. 2018 Apr. 33 (2):589-600. [QxMD MEDLINE Link].
Shy ME, Lupski JR, Chance PF, Klein CJ, Dyck PJ. Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. Dyck PJ, Thomas PK, eds. Peripheral Neuropathy. 4th ed. Philadelphia: Saunders; 2005. Vol 2: 1623-58.
Auer-Grumbach M, Wagner K, Strasser-Fuchs S, Löscher WN, Fazekas F, Millner M, et al. Clinical predominance of proximal upper limb weakness in CMT1A syndrome. Muscle Nerve. 2000 Aug. 23 (8):1243-9. [QxMD MEDLINE Link].
Steiner I, Gotkine M, Steiner-Birmanns B, Biran I, Silverstein S, Abeliovich D, et al. Increased severity over generations of Charcot-Marie-Tooth disease type 1A. J Neurol. 2008 Jun. 255 (6):813-9. [QxMD MEDLINE Link].
Shy ME, Chen L, Swan ER, Taube R, Krajewski KM, Herrmann D, et al. Neuropathy progression in Charcot-Marie-Tooth disease type 1A. Neurology. 2008 Jan 29. 70 (5):378-83. [QxMD MEDLINE Link].
Spinosa MR, Progida C, De Luca A, Colucci AM, Alifano P, Bucci C. Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease. J Neurosci. 2008 Feb 13. 28 (7):1640-8. [QxMD MEDLINE Link].
Pareyson D, Taroni F, Botti S, Morbin M, Baratta S, Lauria G, et al. Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. Neurology. 2000 Apr 25. 54 (8):1696-8. [QxMD MEDLINE Link].
Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993 Dec 24. 262 (5142):2039-42. [QxMD MEDLINE Link].
Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, et al. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology. 1998 Apr. 50 (4):1074-82. [QxMD MEDLINE Link].
Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, et al. New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurology. 1995 Oct. 45 (10):1863-6. [QxMD MEDLINE Link].
Lewis RA. The challenge of CMTX and connexin 32 mutations. Muscle Nerve. 2000 Feb. 23 (2):147-9. [QxMD MEDLINE Link].
Stojkovic T, Latour P, Vandenberghe A, Hurtevent JF, Vermersch P. Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q). Neurology. 1999 Mar 23. 52 (5):1010-4. [QxMD MEDLINE Link].
Kurihara S, Adachi Y, Wada K, Awaki E, Harada H, Nakashima K. An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan. Neuroepidemiology. 2002 Sep-Oct. 21 (5):246-50. [QxMD MEDLINE Link].
Morocutti C, Colazza GB, Soldati G, D'Alessio C, Damiano M, Casali C, et al. Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: an epidemiological study. Neuroepidemiology. 2002 Sep-Oct. 21 (5):241-5. [QxMD MEDLINE Link].
Braathen GJ. Genetic epidemiology of Charcot-Marie-Tooth disease. Acta Neurol Scand Suppl. 2012. iv-22. [QxMD MEDLINE Link].
Tozza S, Bruzzese D, Pisciotta C, Iodice R, Esposito M, Dubbioso R, et al. Motor performance deterioration accelerates after 50 years of age in Charcot-Marie-Tooth type 1A patients. Eur J Neurol. 2018 Feb. 25 (2):301-306. [QxMD MEDLINE Link].
Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology. 2005 Apr 12. 64 (7):1209-14. [QxMD MEDLINE Link].
Hoff JM, Gilhus NE, Daltveit AK. Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease. Neurology. 2005 Feb 8. 64 (3):459-62. [QxMD MEDLINE Link].
Padua L, Shy ME, Aprile I, Cavallaro T, Pareyson D, Quattrone A, et al. Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A. J Peripher Nerv Syst. 2008 Mar. 13 (1):64-70. [QxMD MEDLINE Link].
Bernasconi A, Cooper L, Lyle S, Patel S, Cullen N, Singh D, et al. Pes cavovarus in Charcot-Marie-Tooth compared to the idiopathic cavovarus foot: A preliminary weightbearing CT analysis. Foot Ankle Surg. 2021 Feb. 27 (2):186-195. [QxMD MEDLINE Link].
Reynaud V, Conforto I, Givron P, Clavelou P, Cornut-Chauvinc C, Taithe F, et al. Multidimensional evaluation is necessary to assess hand function in patients with Charcot-Marie-Tooth disease type 1A. Ann Phys Rehabil Med. 2021 Mar. 64 (2):101362. [QxMD MEDLINE Link].
Burns J, Bray P, Cross LA, North KN, Ryan MM, Ouvrier RA. Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscul Disord. 2008 Dec. 18 (12):970-3. [QxMD MEDLINE Link].
Carter GT, Jensen MP, Galer BS, Kraft GH, Crabtree LD, Beardsley RM, et al. Neuropathic pain in Charcot-Marie-Tooth disease. Arch Phys Med Rehabil. 1998 Dec. 79 (12):1560-4. [QxMD MEDLINE Link].
Berciano J, Gallardo E, García A, Pelayo-Negro AL, Infante J, Combarros O. New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication. J Neurol. 2011 Sep. 258 (9):1594-602. [QxMD MEDLINE Link].
Singh D, Gray J, Laura M, Reilly MM. Charcot neuroarthropathy in patients with Charcot Marie Tooth Disease. Foot Ankle Surg. 2021 Dec. 27 (8):865-868. [QxMD MEDLINE Link].
Akdal G, Koçoğlu K, Tanrıverdizade T, Bora E, Bademkıran F, Yüceyar AN, et al. Vestibular impairment in Charcot-Marie-Tooth disease. J Neurol. 2021 Feb. 268 (2):526-531. [QxMD MEDLINE Link].
Shaffer LG, Kennedy GM, Spikes AS. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet. 1997 Mar 31. 69(3):325-31. [QxMD MEDLINE Link].
Anderson TJ, Klugmann M, Thomson CE, Schneider A, Readhead C, Nave KA, et al. Distinct phenotypes associated with increasing dosage of the PLP gene: implications for CMT1A due to PMP22 gene duplication. Ann N Y Acad Sci. 1999 Sep 14. 883:234-46. [QxMD MEDLINE Link].
Millere E, Rots D, Simrén J, Ashton NJ, Kupats E, Micule I, et al. Plasma neurofilament light chain as a potential biomarker in Charcot-Marie-Tooth disease. Eur J Neurol. 2021 Mar. 28 (3):974-981. [QxMD MEDLINE Link].
Cartwright MS, Brown ME, Eulitt P, Walker FO, Lawson VH, Caress JB. Diagnostic nerve ultrasound in Charcot-Marie-Tooth disease type 1B. Muscle Nerve. 2009 Jul. 40 (1):98-102. [QxMD MEDLINE Link].
Gaeta M, Mileto A, Mazzeo A, Minutoli F, Di Leo R, Settineri N, et al. MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease. Skeletal Radiol. 2012 May. 41 (5):515-24. [QxMD MEDLINE Link].
Dyck PJ, Karnes JL, Lambert EH. Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1. Neurology. 1989 Oct. 39 (10):1302-8. [QxMD MEDLINE Link].
Kitaoji T, Noto YI, Kojima Y, Tsuji Y, Kitani-Morii F, Mizuno T, et al. Compound muscle action potential duration ratio for differentiation between Charcot-Marie-Tooth disease and CIDP. Clin Neurophysiol. 2023 Feb. 146:124-130. [QxMD MEDLINE Link].
McCorquodale D, Pucillo EM, Johnson NE. Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach. J Multidiscip Healthc. 2016. 9:7-19. [QxMD MEDLINE Link].
Mathis S, Magy L, Vallat JM. Therapeutic options in Charcot-Marie-Tooth diseases. Expert Rev Neurother. 2015 Apr. 15 (4):355-66. [QxMD MEDLINE Link].
Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, et al. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol. 2011 Apr. 10 (4):320-8. [QxMD MEDLINE Link].
Fledrich R, Abdelaal T, Rasch L, Bansal V, Schütza V, Brügger B, et al. Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy. Nat Commun. 2018 Aug 2. 9 (1):3025. [QxMD MEDLINE Link]. [Full Text].
Knak KL, Andersen LK, Vissing J. Aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X: A pilot study. Brain Behav. 2017 Dec. 7 (12):e00794. [QxMD MEDLINE Link]. [Full Text].
Coleman SS, Chesnut WJ. A simple test for hindfoot flexibility in the cavovarus foot. Clin Orthop Relat Res. 1977 Mar-Apr. (123):60-2. [QxMD MEDLINE Link].
Dreher T, Wolf SI, Heitzmann D, Fremd C, Klotz MC, Wenz W. Tibialis posterior tendon transfer corrects the foot drop component of cavovarus foot deformity in Charcot-Marie-Tooth disease. J Bone Joint Surg Am. 2014 Mar 19. 96 (6):456-62. [QxMD MEDLINE Link].
Faldini C, Traina F, Nanni M, Mazzotti A, Calamelli C, Fabbri D, et al. Surgical treatment of cavus foot in Charcot-Marie-tooth disease: a review of twenty-four cases: AAOS exhibit selection. J Bone Joint Surg Am. 2015 Mar 18. 97 (6):e30. [QxMD MEDLINE Link].
Paulos L, Coleman SS, Samuelson KM. Pes cavovarus. Review of a surgical approach using selective soft-tissue procedures. J Bone Joint Surg Am. 1980 Sep. 62 (6):942-53. [QxMD MEDLINE Link].
Weiner DS, Morscher M, Junko JT, Jacoby J, Weiner B. The Akron dome midfoot osteotomy as a salvage procedure for the treatment of rigid pes cavus: a retrospective review. J Pediatr Orthop. 2008 Jan-Feb. 28 (1):68-80. [QxMD MEDLINE Link].
Wukich DK, Bowen JR. A long-term study of triple arthrodesis for correction of pes cavovarus in Charcot-Marie-Tooth disease. J Pediatr Orthop. 1989 Jul-Aug. 9 (4):433-7. [QxMD MEDLINE Link].
Ward CM, Dolan LA, Bennett DL, Morcuende JA, Cooper RR. 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. [QxMD MEDLINE Link]. [Full Text].
Pitceathly RD, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, et al. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. Neurology. 2012 Sep 11. 79 (11):1145-54. [QxMD MEDLINE Link].
Graf WD, Chance PF, Lensch MW, Eng LJ, Lipe HP, Bird TD. Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A. Cancer. 1996 Apr 1. 77 (7):1356-62. [QxMD MEDLINE Link].
Dyck PJ, Swanson CJ, Low PA, Bartleson JD, Lambert EH. Prednisone-responsive hereditary motor and sensory neuropathy. Mayo Clin Proc. 1982 Apr. 57 (4):239-46. [QxMD MEDLINE Link].
Ginsberg L, Malik O, Kenton AR, Sharp D, Muddle JR, Davis MB, et al. Coexistent hereditary and inflammatory neuropathy. Brain. 2004 Jan. 127 (Pt 1):193-202. [QxMD MEDLINE Link]. [Full Text].
Sahenk Z, Nagaraja HN, McCracken BS, King WM, Freimer ML, Cedarbaum JM, et al. NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. Neurology. 2005 Sep 13. 65 (5):681-9. [QxMD MEDLINE Link].
Passage E, Norreel JC, Noack-Fraissignes P, Sanguedolce V, Pizant J, Thirion X, et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med. 2004 Apr. 10 (4):396-401. [QxMD MEDLINE Link].
Gess B, Baets J, De Jonghe P, Reilly MM, Pareyson D, Young P. Ascorbic acid for the treatment of Charcot-Marie-Tooth disease. Cochrane Database Syst Rev. 2015 Dec 11. CD011952. [QxMD MEDLINE Link].
Attarian S, Vallat JM, Magy L, Funalot B, Gonnaud PM, Lacour A, 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. [QxMD MEDLINE Link].
Prukop T, Stenzel J, Wernick S, Kungl T, Mroczek M, Adam J, et al. Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A). PLoS One. 2019. 14 (1):e0209752. [QxMD MEDLINE Link].