Pareyson D, Saveri P, Pisciotta C (2017) New developments in Charcot-Marie-Tooth neuropathy and related diseases. Curr Opin Neurol 30(5):471–480. https://doi.org/10.1097/WCO.0000000000000474
Article CAS PubMed Google Scholar
Stavrou M, Sargiannidou I, Georgiou E, Kagiava A, Kleopa KA (2021) Emerging therapies for Charcot-Marie-Tooth inherited neuropathies. Int J Mol Sci 22(11). https://doi.org/10.3390/ijms22116048
Kramarz C, Rossor AM (2022) Neurological update: hereditary neuropathies. J Neurol 269(9):5187–5191. https://doi.org/10.1007/s00415-022-11164-1
Article CAS PubMed PubMed Central Google Scholar
Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA et al (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66(2):219–232. https://doi.org/10.1016/0092-8674(91)90613-4
Article CAS PubMed Google Scholar
Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72(1):143–151. https://doi.org/10.1016/0092-8674(93)90058-x
Article CAS PubMed Google Scholar
Li J, Parker B, Martyn C, Natarajan C, Guo J (2013) The PMP22 gene and its related diseases. Mol Neurobiol 47(2):673–698. https://doi.org/10.1007/s12035-012-8370-x
Article CAS PubMed Google Scholar
Yoshimura A, Yuan JH, Hashiguchi A, Ando M, Higuchi Y, Nakamura T, Okamoto Y, Nakagawa M, Takashima H (2019) Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan. J Neurol Neurosurg Psychiatry 90(2):195–202. https://doi.org/10.1136/jnnp-2018-318839
Colby J, Nicholson R, Dickson KM, Orfali W, Naef R, Suter U, Snipes GJ (2000) PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells. Neurobiol Dis 7(6 Pt B):561–573. https://doi.org/10.1006/nbdi.2000.0323
Article CAS PubMed Google Scholar
D’Urso D, Prior R, Greiner-Petter R, Gabreels-Festen AA, Muller HW (1998) Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22. J Neurosci 18(2):731–740
Article CAS PubMed PubMed Central Google Scholar
Khajavi M, Shiga K, Wiszniewski W, He F, Shaw CA, Yan J, Wensel TG, Snipes GJ, Lupski JR (2007) Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet 81(3):438–453. https://doi.org/10.1086/519926
Article CAS PubMed PubMed Central Google Scholar
Sakakura M, Hadziselimovic A, Wang Z, Schey KL, Sanders CR (2011) Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease. Structure 19(8):1160–1169. https://doi.org/10.1016/j.str.2011.05.009
Article CAS PubMed PubMed Central Google Scholar
Gess B, Jeibmann A, Schirmacher A, Kleffner I, Schilling M, Young P (2011) Report of a novel mutation in the PMP22 gene causing an axonal neuropathy. Muscle Nerve 43(4):605–609. https://doi.org/10.1002/mus.21973
Rossor AM, Shy ME, Reilly MM (2020) Are we prepared for clinical trials in Charcot-Marie-Tooth disease? Brain Res 1729:146625. https://doi.org/10.1016/j.brainres.2019.146625
Article CAS PubMed Google Scholar
Abdelnaby R, Elgenidy A, Sonbol YT, Dardeer KT, Ebrahim MA, Maallem I, Youssef MW, Moawad M, Hassan YG, Rabie SA et al (2022) Nerve sonography in Charcot-Marie-Tooth disease: a systematic review and meta-analysis of 6061 measured nerves. Ultrasound Med Biol 48(8):1397–1409. https://doi.org/10.1016/j.ultrasmedbio.2022.04.220
Zanette G, Tamburin S, Taioli F, Lauriola MF, Badari A, Ferrarini M, Cavallaro T, Fabrizi GM (2019) Nerve size correlates with clinical severity in Charcot-Marie-Tooth disease 1A. Muscle Nerve 60(6):744–748. https://doi.org/10.1002/mus.26688
Kojima Y, Noto YI, Tsuji Y, Kitani-Morii F, Shiga K, Mizuno T, Nakagawa M (2020) Charcot-Marie-Tooth disease type 1A: longitudinal change in nerve ultrasound parameters. Muscle Nerve 62(6):722–727. https://doi.org/10.1002/mus.27068
Jennings MJ, Kagiava A, Vendredy L, Spaulding EL, Stavrou M, Hathazi D, Gruneboom A, De Winter V, Gess B, Schara U et al (2022) NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice. Brain. https://doi.org/10.1093/brain/awac055
Article PubMed PubMed Central Google Scholar
Spaulding EL, Hines TJ, Bais P, Tadenev ALD, Schneider R, Jewett D, Pattavina B, Pratt SL, Morelli KH, Stum MG et al (2021) The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy. Science 373(6559):1156–1161. https://doi.org/10.1126/science.abb3414
Article CAS PubMed PubMed Central Google Scholar
Wang HG, Davison M, Wang K, Xia TH, Kramer M, Call K, Luo J, Wu XY, Zuccarino R, Bacon C et al (2020) Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A. Ann Clin Transl Neur 7(1):69–82. https://doi.org/10.1002/acn3.50965
Wang HG, Davison M, Wang K, Xia TH, Call KM, Luo J, Wu XY, Zuccarino R, Bacha A, Bai YH et al (2021) MicroRNAs as biomarkers of Charcot-Marie-Tooth disease type 1A. Neurology 97(5):E489–E500. https://doi.org/10.1212/WNL.0000000000012266
Article CAS PubMed PubMed Central Google Scholar
Sandelius A, Zetterberg H, Blennow K, Adiutori R, Malaspina A, Laura M, Reilly MM, Rossor AM (2018) Plasma neurofilament light chain concentration in the inherited peripheral neuropathies. Neurology 90(6):e518–e524. https://doi.org/10.1212/WNL.0000000000004932
Article CAS PubMed PubMed Central Google Scholar
Rossor AM, Kapoor M, Wellington H, Spaulding E, Sleigh JN, Burgess RW, Laura M, Zetterberg H, Bacha A, Wu X et al (2022) A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease. J Peripher Nerv Syst 27(1):50–57. https://doi.org/10.1111/jns.12477
Article CAS PubMed Google Scholar
Gaetani L, Blennow K, Calabresi P, Di Filippo M, Parnetti L, Zetterberg H (2019) Neurofilament light chain as a biomarker in neurological disorders. J Neurol Neurosurg Psychiatry 90(8):870–881. https://doi.org/10.1136/jnnp-2018-320106
Wang DS, Wu X, Bai Y, Zaidman C, Grider T, Kamholz J, Lupski JR, Connolly AM, Shy ME (2017) PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E. Ann Clin Transl Neurol 4(4):236–245. https://doi.org/10.1002/acn3.395
Article CAS PubMed PubMed Central Google Scholar
Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR (1993) Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 5(3):269–273. https://doi.org/10.1038/ng1193-269
Article CAS PubMed Google Scholar
Fabrizi GM, Simonati A, Taioli F, Cavallaro T, Ferrarini M, Rigatelli F, Pini A, Mostacciuolo ML, Rizzuto N (2001) PMP22 related congenital hypomyelination neuropathy. J Neurol Neurosurg Psychiatry 70(1):123–126. https://doi.org/10.1136/jnnp.70.1.123
Article CAS PubMed PubMed Central Google Scholar
Goedee HS, van der Pol WL, van Asseldonk JH, Franssen H, Notermans NC, Vrancken AJ, van Es MA, Nikolakopoulos S, Visser LH, van den Berg LH (2017) Diagnostic value of sonography in treatment-naive chronic inflammatory neuropathies. Neurology 88(2):143–151. https://doi.org/10.1212/WNL.0000000000003483
Kramer M, Grimm A, Winter N, Dorner M, Grundmann-Hauser K, Stahl JH, Wittlinger J, Kegele J, Kronlage C, Willikens S (2021) Nerve ultrasound as helpful tool in polyneuropathies. Diagnostics (Basel) 11(2). https://doi.org/10.3390/diagnostics11020211.
Zanette G, Fabrizi GM, Taioli F, Lauriola MF, Badari A, Ferrarini M, Cavallaro T, Tamburin S (2018) Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs. Clin Neurophysiol 129(11):2259–2267. https://doi.org/10.1016/j.clinph.2018.08.016
Murphy SM, Herrmann DN, McDermott MP, Scherer SS, Shy ME, Reilly MM, Pareyson D (2011) Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst 16(3):191–198. https://doi.org/10.1111/j.1529-8027.2011.00350.x
Article PubMed PubMed Central Google Scholar
Eichinger K, Burns J, Cornett K, Bacon C, Shepherd ML, Mountain J, Sowden J, Shy R, Shy ME, Herrmann DN (2018) The Charcot-Marie-Tooth functional outcome measure (CMT-FOM). Neurology 91(15):e1381–e1384. https://doi.org/10.1212/WNL.0000000000006323
Article PubMed PubMed Central Google Scholar
Grimm A, Axer H, Heiling B, Winter N (2018) Nerve ultrasound normal values - readjustment of the ultrasound pattern sum score UPSS. Clin Neurophysiol 129(7):1403–1409. https://doi.org/10.1016/j.clinph.2018.03.036
Jarvilehto J, Harjuhaahto S, Palu E, Auranen M, Kvist J, Zetterberg H, Koskivuori J, Lehtonen M, Saukkonen AM, Jokela M et al (2022) Serum creatine, not neurofilament light, is elevated in CHCHD10-linked spinal muscular atrophy. Front Neurol 13:793937. https://doi.org/10.3389/fneur.2022.793937
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