Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages

Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages

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  • 1. Pisciotta C, Shy ME. Neuropathy. Handb Clin Neurol. 2018;148:653-665. [CrossRef]
  • 2. De Jonghe P, Timmerman V, Nelis E, Martin JJ, Van Broeckhoven C. Charcot-Marie Tooth disease and related peripheral neuropathies. J Peripher Nerv Syst. 1997;2:370- 387. [CrossRef]
  • 3. Laurá M, Pipis M, Rossor AM, Reilly MM. Charcot-marie-Tooth disease and related disorders: An evolving landscape. Curr Opin Neurol. 2019;32:641-650. [CrossRef]
  • 4. Timmerman V, Strickland AV, Züchner S. Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success. Genes (Basel). 2014;5:13-32. [CrossRef]
  • 5. Parman Y, Battaloǧlu E. Recessively transmitted predominantly motor neuropathies. Handb Clin Neurol. 2013;115:847-861. [CrossRef]
  • 6. Rossor AM, Evans MRB, Reilly MM. A practical approach to the genetic neuropathies. Pract Neurol. 2015;15:187-198. [CrossRef]
  • 7. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth’s disease. Clin Genet. 1974;6:98-118. [CrossRef]
  • 8. Barreto LC, Oliveira FS, Nunes PS, et al. Epidemiologic Study of Charcot-Marie Tooth Disease: A Systematic Review. Neuroepidemiology. 2016;46:157-165. [CrossRef]
  • 9. Bird TD, Ott J, Giblett ER. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet. 1982;34:388- 394. [CrossRef]
  • 10. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991;66:219-232. [CrossRef]
  • 11. Parman Y, Battaloǧlu E, Baris I, Bilir B, et al. Clinicopathological and genetic study of early-onset demyelinating neuropathy. Brain. 2004;127:2540-2550. [CrossRef]
  • 12. Pareyson D, Scaioli, Laurà M. Clinical and Electrophysiological Aspects of Charcot Marie-Tooth Disease. Neuromolecular Med. 2006;8:3-22. [CrossRef]
  • 13. Davis CJ, Bradley WG, Madrid R. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum. 1978;26:311-349. [CrossRef]
  • 14. Nave KA, Sereda MW, Ehrenreich H. Mechanisms of disease: Inherited demyelinating neuropathies - From basic to clinical research. Nat Clin Pract Neurol. 2007;3:453- 464. [CrossRef]
  • 15. Siskind CE, Panchal S, Smith CO, et al. A review of genetic counseling for Charcot Marie Tooth disease (CMT). J Genet Couns. 2013;22:422-436. [CrossRef]
  • 16. Brennan KM, Bai Y, Shy ME. Demyelinating CMT -- what’s known, what’s new and what’s in store? Neurosci Lett. 2015;2:14-26. [CrossRef]
  • 17. Tazir M, Bellatache M, Nouioua S, Vallat JM. Autosomal recessive Charcot-Marie Tooth disease: From genes to phenotypes. J Peripher Nerv Syst. 2013;18:113-129. [CrossRef]
  • 18. Mathis S, Goizet C, Tazir M, et al. Charcot-Marie-Tooth diseases: an update and some new proposals for the classification. J Med Genet. 2015;52:681-690. [CrossRef]
  • 19. Chance PF, Alderson MK, Leppig KA, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 1993;72:143-151. [CrossRef]
  • 20. Murphy SM, Laura M, Fawcett K, et al. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry. 2012;83:706-710. [CrossRef]
  • 21. Kleopa KA. The role of gap junctions in Charcot-Marie-Tooth disease. J Neurosci. 2011;31:17753-17760. [CrossRef]
  • 22. Tazir M, Hamadouche T, Nouioua S, Mathis S, Vallat JM. Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: An update. J Neurol Sci. 2014;347:14-22. [CrossRef]
  • 23. Züchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet. 2004;36:449- 451. [CrossRef]
  • 24. Nicholson GA, Magdelaine C, Zhu D, et al. Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Neurology. 2008;70:1678-1681. [CrossRef]
  • 25. Bis-Brewer DM, Fazal S, Züchner S. Genetic modifiers and non-Mendelian aspects of CMT. Brain Res. 2020;1726:146459. [CrossRef]
  • 26. Zimoń M, Battaloğlu E, Parman Y, et al. Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach. Neurogenetics. 2015;16:33-42. [CrossRef]
  • 27. Zimoń M, Baets J, Almeida-Souza L, et al. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet. 2012;44:1080-1083. [CrossRef]
  • 28. Peeters K, Chamova T, Tournev I, Jordanova A. Axonal neuropathy with neuromyotonia: There is a HINT. Brain. 2017;140:868-877. [CrossRef]
  • 29. Snipes GJ, Suter U, Welcher AA, Shooter EM. Characterization of a novel peripheral nervous system myelin protein (PMP- 22/SR13). J Cell Biol. 1992;117:225-238. [CrossRef]
  • 30. Greenfield S, Brostoff S, Eylar EH, Morell P. Protein Composition of Myelin of the Peripheral Nervous System. J Neurochem. 1973;20:1207-1216. [CrossRef]
  • 31. D’Urso D, Ehrhardt P, Müller HW. Peripheral myelin protein 22 and protein zero: A novel association in peripheral nervous system myelin. J Neurosci. 1999;19:3396- 3403. [CrossRef]
  • 32. Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nat Genet. 1995;11:274-280. [CrossRef]
  • 33. Martini R, Zielasek J, Toyka KV, Giese KP, Schachner M. Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet. 1995;11:281-286. [CrossRef]
  • 34. Fortun J, Go JC, Li J, Amici SA, Dunn WA Jr, Notterpek L. Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression. Neurobiol Dis. 2006;22:153-164. [CrossRef]
  • 35. Mäurer M, Kobsar I, Berghoff M, Schmid CD, Carenini S, Martini R. Role of immune cells in animal models for inherited neuropathies: facts and visions. J Anat. 2002;200:405-414. [CrossRef]
  • 36. Wang Ip C, Kroner A, Fischer S, et al. Role of immune cells in animal models for inherited peripheral neuropathies. Neuromolecular Med. 2006;8:175-190. [CrossRef]
  • 37. Pareyson D, Saveri P, Sagnelli A, Piscosquito G. Mitochondrial dynamics and inherited peripheral nerve diseases. Neurosci Lett. 2015;596:66-77. [CrossRef]
  • 38. Espinós C, Galindo MI, García-Gimeno MA, et al. Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration. Antioxidants (Basel). 2020;9:313. [CrossRef]
  • 39. Mersiyanova IV, Perepelov AV, Polyakov AV, et al. A new variant of Charcot-Marie Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet. 2000;67:37-46. [CrossRef]
  • 40. Rebelo AP, Abrams AJ, Cottenie E, et al. Cryptic Amyloidogenic Elements in the 3’ UTRs of Neurofilament Genes Trigger Axonal Neuropathy. Am J Hum Genet. 2016;98:597-614. [CrossRef]
  • 41. Verhoeven K, De Jonghe P, Coen K, et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet. 2003;72:722-727. [CrossRef]
  • 42. Züchner S, Noureddine M, Kennerson M, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005;37:289-294. [CrossRef]
  • 43. Hinshaw JE. Dynamin and its role in membrane fission. Annu Rev Cell Dev Biol. 2000;16:483-519. [CrossRef]
  • 44. Schafer DA, Weed SA, Binns D, Karginov AV, Parsons JT, Cooper JA. Dynamin2 and cortactin regulate actin assembly and filament organization. Curr Biol. 2002;12:1852- 1857. [CrossRef]
  • 45. Weedon MN, Hastings R, Caswell R, et al. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease e. Am J Hum Genet. 2011;89:308-312. [CrossRef]
  • 46. Puls I, Jonnauty C, LaMonte BH, et al. Mutant dynactin in motor neuron disease. Nat Genet. 2003;33:455-456. [CrossRef]
  • 47. De Vos KJ, Grierson AJ, Ackerley S, Miller CC. Role of axonal transport in neurodegenerative diseases. Annu Rev Neurosci. 2008;31:151-173. [CrossRef]
  • 48. Evgrafov OV, Mersiyanova I, Irobi J, et al. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet. 2004;36:602-606. [CrossRef]
  • 49. Irobi J, Van Impe K, Seeman P, et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathyy. Nat Genet. 2004;36:597-601. [CrossRef]
  • 50. Kolb SJ, Snyder PJ, Poi EJ, et al. Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach h. Neurology. 2010;74:502-506. [CrossRef]
  • 51. Pitceathly RD, Murphy SM, Cottenie E, et al. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. Neurology. 2012;79:1145-1154. [CrossRef]
  • 52. Fay A, Garcia Y, Margeta M, et al. A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family. Ann Neurol. 2020;88:830-842. [CrossRef]
  • 53. Rudnik-Schöneborn S, Tölle D, Senderek J, et al. Diagnostic algorithms in Charcot Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Clin Genet. 2016;89:34-43. [CrossRef]
  • 54. Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME. Charcot-Marie Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011;69:22-33. [CrossRef]
  • 55. DiVincenzo C, Elzinga CD, Medeiros AC, et al. The allelic spectrum of Charcot Marie-Tooth disease in. Mol Genet Genomic Med. 2014;2:522-529. [CrossRef]
  • 56. Miller LJ, Saporta ASD, Sottile SL, Siskind CE, Feely SME, Shy ME. Strategy for genetic testing in Charcot-Marie-Disease. Acta Myol. 2011;30:109-116. [CrossRef]
  • 57. Østern R, Fagerheim T, Hjellnes H, Nygård B, Mellgren SI, Nilssen Ø. Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies. BMC Med Genet. 2013;14:94. [CrossRef]
  • 58. Azzedine H, Ravisé N, Verny C, et al. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology. 2006;67:602-606. [CrossRef]
  • 59. Sevilla T, Jaijo T, Nauffal D, et al. Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain. 2008;131:3051-3061. [CrossRef]
  • 60. Slatko BE, Gardner AF, Ausubel FM. Overview of Next-Generation Sequencing Technologies. Curr Protoc Mol Biol. 2018;122:59. [CrossRef]
  • 61. Lupo V, García-García F, Sancho P, et al. Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. J Mol Diagn. 2016;18:225-234. [CrossRef]
  • 62. Cortese A, Wilcox JE, Polke JM, et al. Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease. Neurology. 2020;94:51-61. [CrossRef]
  • 63. Pipis M, Rossor AM, Laura M, Reilly MM. Next-generation sequencing in Charcot Marie-Tooth disease: opportunities and challenges. Nat Rev Neurol. 2019;15:644- 656. [CrossRef]
  • 64. Nam SH, Hong YB, Hyun YS, et al. Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing. Mol Cells. 2016;39:382- 388. [CrossRef]
  • 65. Wang W, Wang C, Dawson DB, et al. Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. Neurology. 2016;86:1762-1771. [CrossRef]
  • 66. Candayan A, Çakar A, Yunisova G, et al. Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort. Neurol Genet. 2021;7:621. [CrossRef]
  • 67. Botstein D, Risch N. Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease. Nat Genet. 2003;33(suppl):228-237. [CrossRef]
  • 68. Choi BO, Koo SK, Park MH, et al. Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease. Hum Mutat. 2012;33:1610-1615. [CrossRef]
  • 69. Mantere T, Kersten S, Hoischen A. Long-read sequencing emerging in medical genetics. Front Genet. 2019;10:426. [CrossRef]
  • 70. Xiao T, Zhou W. The third generation sequencing: The advanced approach to genetic diseases. Transl Pediatr. 2020;9:163-173. [CrossRef]
  • 71. Yoshimura A, Yuan JH, Hashiguchi A, et al. Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan. J Neurol Neurosurg Psychiatry. 2019;90:195-202. [CrossRef]
  • 72. Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot Marie-Tooth disease. Lancet Neurol. 2009;8:654-667. [CrossRef]
  • 73. Fridman V, Bundy B, Reilly MM, 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;86:873-878. [CrossRef]
  • 74. Candayan A, Yunisova G, Çakar A, et al. The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype. Neurogenetics. 2020;21:73-78. [CrossRef]
  • 75. Tey S, Shahrizaila N, Drew AP, et al. Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family. Neurogenetics. 2019;20:117-127. [CrossRef]
  • 76. Ylikallio E, Woldegebriel R, Tumiati M, et al. MCM3AP in recessive Charcot Marie-Tooth neuropathy and mild intellectual disability. Brain. 2017;140:2093-2103. [CrossRef]
  • 77. Stendel C, Roos A, Deconinck T, et al. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet. 2007;81:158-164. [CrossRef]
  • 78. Senderek J, Bergmann C, Stendel C, 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;73:1106-1119. [CrossRef]
  • 79. Sereda MW, Meyer zu Hörste G, Suter U, Uzma N, Nave KA. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med. 2003;9:1533-1537. [CrossRef]
  • 80. Passage E, Norreel JC, Noack-Fraissignes P, et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med. 2004;10:396- 401. [CrossRef]
  • 81. Burns J, Ouvrier RA, Yiu EM, et al. Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. Lancet Neurol. 2009;8:537-544. [CrossRef]
  • 82. Morena J, Gupta A, Hoyle JC. Charcot-marie-tooth: From molecules to therapy. Int J Mol Sci. 2019;20:3419. [CrossRef]
  • 83. 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;128:359-368. [CrossRef]
  • 84. Attarian S, Vallat JM, Magy L, et al. Erratum to: 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. 2016;11:92. [CrossRef]
  • 85. Sahenk Z, Nagaraja HN, McCracken BS, et al. NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. Neurology. 2005;65:681-689. [CrossRef]
  • 86. Sahenk Z, Ozes B. Gene therapy to promote regeneration in Charcot-Marie-Tooth disease. Brain Res. 2020;1727:146533. [CrossRef]
  • 87. Bolino A, Piguet F, Alberizzi V, et al. Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination. EMBO Mol Med. 2016;8:1438-1454. [CrossRef]
  • 88. Khajavi M, Shiga K, Wiszniewski W, et al. Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet. 2007;81:438-453. [CrossRef]
  • 89. Rocha AG, Franco A, Krezel AM, et al. MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A. Science. 2018;360:336-341. [CrossRef]
  • 90. Kagiava A, Karaiskos C, Richter J, et al. Intrathecal gene therapy in mouse models expressing CMT1X mutations. Hum Mol Genet. 2018;27:1460-1473. [CrossRef]
Balkan Medical Journal-Cover
  • ISSN: 2146-3123
  • Başlangıç: 2015
  • Yayıncı: Erkan Mor
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