Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, et al. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet. 2003;73:1106–19.
Article CAS PubMed PubMed Central Google Scholar
Sun B, He ZQ, Li YR, Bai JM, Wang HR, Wang HF, et al. Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients. Acta Neurol Belg. 2022;122:1169–75.
Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, et al. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry. 2015;86:873–8.
Article CAS PubMed Google Scholar
Kessali M, Zemmouri R, Guilbot A, Maisonobe T, Brice A, LeGuern E, et al. A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease. Neurology. 1997;48:867–73.
Article CAS PubMed Google Scholar
Gabreels-Festen A, van Beersum S, Eshuis L, LeGuern E, Gabreels F, van Engelen B, et al. Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. J Neurol Neurosurg Psychiatry. 1999;66:569–74.
Article CAS PubMed PubMed Central Google Scholar
Azzedine H, Ravise N, Verny C, Gabreels-Festen A, Lammens M, Grid D, et al. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology. 2006;67:602–6.
Article CAS PubMed Google Scholar
Gooding R, Colomer J, King R, Angelicheva D, Marns L, Parman Y, et al. A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. J Med Genet. 2005;42:e69.
Article CAS PubMed PubMed Central Google Scholar
Colomer J, Gooding R, Angelicheva D, King RH, Guillen-Navarro E, Parman Y, et al. Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2. Neuromuscul Disord. 2006;16:449–53.
Varley TL, Bourque PR, Baker SK. Phenotypic variability of CMT4C in a French-Canadian kindred. Muscle Nerve. 2015;52:444–9.
Article CAS PubMed Google Scholar
Perez-Garrigues H, Sivera R, Vilchez JJ, Espinos C, Palau F, Sevilla T. Vestibular impairment in Charcot-Marie-Tooth disease type 4C. J Neurol Neurosurg Psychiatry. 2014;85:824–7.
Rehbein T, Wu TT, Treidler S, Pareyson D, Lewis R, Yum SW, et al. Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history. Brain. 2023;146:3826–35.
Article PubMed PubMed Central Google Scholar
LeGuern E, Guilbot A, Kessali M, Ravise N, Tassin J, Maisonobe T, et al. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum Mol Genet. 1996;5:1685–8.
Article CAS PubMed Google Scholar
Lassuthova P, Mazanec R, Vondracek P, Siskova D, Haberlova J, Sabova J, et al. High frequency of SH3TC2 mutations in Czech HMSN I patients. Clin Genet. 2011;80:334–45.
Article CAS PubMed Google Scholar
Gosselin I, Thiffault I, Tetreault M, Chau V, Dicaire MJ, Loisel L, et al. Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. Neuromuscul Disord. 2008;18:483–92.
Sevilla T, Martinez-Rubio D, Marquez C, Paradas C, Colomer J, Jaijo T, et al. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. Clin Genet. 2013;83:565–70.
Article CAS PubMed Google Scholar
Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Medard JJ, et al. SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. Proc Natl Acad Sci USA. 2009;106:17528–33.
Article CAS PubMed PubMed Central Google Scholar
Roberts RC, Peden AA, Buss F, Bright NA, Latouche M, Reilly MM, et al. Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. Hum Mol Genet. 2010;19:1009–18.
Article CAS PubMed Google Scholar
Ang AL, Taguchi T, Francis S, Folsch H, Murrells LJ, Pypaert M, et al. Recycling endosomes can serve as intermediates during transport from the Golgi to the plasma membrane of MDCK cells. J Cell Biol. 2004;167:531–43.
Article CAS PubMed PubMed Central Google Scholar
Trajkovic K, Dhaunchak AS, Goncalves JT, Wenzel D, Schneider A, Bunt G, et al. Neuron to glia signaling triggers myelin membrane exocytosis from endosomal storage sites. J Cell Biol. 2006;172:937–48.
Article CAS PubMed PubMed Central Google Scholar
Lupo V, Galindo MI, Martinez-Rubio D, Sevilla T, Vilchez JJ, Palau F, et al. Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. Hum Mol Genet. 2009;18:4603–14.
Article CAS PubMed Google Scholar
Foust KD, Nurre E, Montgomery CL, Hernandez A, Chan CM, Kaspar BK. Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes. Nat Biotechnol. 2009;27:59–65.
Article CAS PubMed Google Scholar
Tanguy Y, Biferi MG, Besse A, Astord S, Cohen-Tannoudji M, Marais T, et al. Systemic AAVrh10 provides higher transgene expression than AAV9 in the brain and the spinal cord of neonatal mice. Front Mol Neurosci. 2015;8:36.
Article PubMed PubMed Central Google Scholar
Gurda BL, De Guilhem De Lataillade A, Bell P, Zhu Y, Yu H, Wang P, et al. Evaluation of AAV-mediated gene therapy for central nervous system disease in canine mucopolysaccharidosis VII. Mol Ther. 2016;24:206–16.
Article CAS PubMed Google Scholar
Kagiava A, Karaiskos C, Richter J, Tryfonos C, Jennings MJ, Heslegrave AJ, et al. AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy. Gene Ther. 2021;28:659–75.
Article CAS PubMed PubMed Central Google Scholar
Bradbury AM, Rafi MA, Bagel JH, Brisson BK, Marshall MS, Pesayco Salvador J, et al. AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease). Hum Gene Ther. 2018;29:785–801.
Article CAS PubMed PubMed Central Google Scholar
Georgiou E, Kagiava A, Sargiannidou I, Schiza N, Stavrou M, Richter J, et al. AAV9-mediated SH3TC2 gene replacement therapy targeted to Schwann cells for the treatment of CMT4C. Mol Ther. 2023;31:3290–307.
Article CAS PubMed PubMed Central Google Scholar
Calcedo R, Wilson JM. Humoral immune response to AAV. Front Immunol. 2013;4:341.
Article PubMed PubMed Central Google Scholar
Hargrove PW, Kepes S, Hanawa H, Obenauer JC, Pei D, Cheng C, et al. Globin lentiviral vector insertions can perturb the expression of endogenous genes in beta-thalassemic hematopoietic cells. Mol Ther. 2008;16:525–33.
Article CAS PubMed Google Scholar
Day JW, Mendell JR, Mercuri E, Finkel RS, Strauss KA, Kleyn A, et al. Clinical trial and postmarketing safety of onasemnogene abeparvovec therapy. Drug Saf. 2021;44:1109–19.
Comments (0)