Charcot-Marie-Tooth disease

Definition:

Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction velocities, the disease can be divided into demyelinating CMT (CMT1), axonal CMT (CMT2) and intermediate CMT (CMTDI/CMTRI). Although more than 70 disease genes for CMT are known, a large number of affected individuals remain without a genetic diagnosis.

References:

[1]. Adriana P Rebelo, et al. A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Brain. 2021 May 7;144(4):1197-1213. [Content Brief]

[2]. Alexandre Janer, et al. SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. EMBO Mol Med. 2016 Sep 1;8(9):1019-38. [Content Brief]

[3]. Anas M Alazami, et al. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3. Neurology. 2014 May 6;82(18):1665-6. [Content Brief]

[4]. Andoni Echaniz-Laguna, et al. SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. Neurology. 2013 Oct 22;81(17):1523-30. [Content Brief]

[5]. Bing-Wen Soong, et al. Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. Am J Hum Genet. 2013 Mar 7;92(3):422-30. [Content Brief]

[6]. Duane L Guernsey, et al. Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. PLoS Genet. 2010 Aug 26;6(8):e1001081. [Content Brief]

[7]. Ellen Cottenie, et al. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet. 2014 Nov 6;95(5):590-601. [Content Brief]

[8]. Emil Ylikallio, et al. Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. Hum Mol Genet. 2013 Aug 1;22(15):2975-83. [Content Brief]

[9]. Emma L Blakely, et al. MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. Neuromuscul Disord. 2012 Jul;22(7):587-91. [Content Brief]

[10]. Gen Tamiya, et al. A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. Am J Hum Genet. 2014 Sep 4;95(3):294-300. [Content Brief]

[11]. Guy M Lenk, et al. Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. PLoS Genet. 2011 Jun;7(6):e1002104. [Content Brief]

[12]. Hamid Azzedine, et al. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum Mol Genet. 2013 Oct 15;22(20):4224-32. [Content Brief]

[13]. James R Lupski, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 Apr 1;362(13):1181-91. [Content Brief]

[14]. Jeremy M Sullivan, et al. Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. J Clin Invest. 2020 Mar 2;130(3):1506-1512. [Content Brief]

[15]. Marina L Kennerson, et al. A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Hum Mol Genet. 2013 Apr 1;22(7):1404-16. [Content Brief]

[16]. Michael A Gonzalez, et al. A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. Brain. 2014 Nov;137(Pt 11):2897-902. [Content Brief]

[17]. Michael Gonzalez, et al. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1247-9. [Content Brief]

[18]. Michael N Weedon, et al. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet. 2011 Aug 12;89(2):308-12. [Content Brief]

[19]. Na Wei, et al. Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases. J Biol Chem. 2019 Apr 5;294(14):5321-5339. [Content Brief]

[20]. Natalia Mendoza-Ferreira, et al. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet. 2020 Oct 1;107(4):763-777. [Content Brief]

[21]. Obaid M Albulym, et al. MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Ann Neurol. 2016 Mar;79(3):419-27. [Content Brief]

[22]. Olivia Boyer, et al. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. N Engl J Med. 2011 Dec 22;365(25):2377-88. [Content Brief]

[23]. P Young, et al. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. [Content Brief]

[24]. Petra Lassuthova, et al. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. Am J Hum Genet. 2018 Mar 1;102(3):505-514. [Content Brief]

[25]. Tulio Bertorini, et al. Charcot-Marie-Tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies. Neurologist. 2004 Nov;10(6):327-37. [Content Brief]

[26]. Viorica Chelban, et al. PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. Ann Neurol. 2019 Aug;86(2):225-240. [Content Brief]

[27]. Wang-Yang Xu, et al. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Am J Hum Genet. 2012 Dec 7;91(6):1088-94. [Content Brief]

[28]. Yujiro Higuchi, et al. Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann Neurol. 2016 Apr;79(4):659-72. [Content Brief]

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