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Original Research Articles

Exploring the evidence for mitochondrial dysfunction and genetic abnormalities in the etiopathogenesis of tropical ataxic neuropathy

, , , , , , , , , , , & ORCID Icon show all
Pages 27-34 | Received 18 Jan 2024, Accepted 24 Jun 2024, Published online: 08 Jul 2024

References

  • Abati, E., Manini, A., Velardo, D., Del Bo, R., Napoli, L., Rizzo, F., Moggio, M., Bresolin, N., Bellone, E., Bassi, M. T., D'Angelo, M. G., Comi, G. P., & Corti, S. (2022). Clinical and genetic features of a cohort of patients with MFN2-related neuropathy. Scientific Reports, 12(1), 6181. https://doi.org/10.1038/s41598-022-10220-0
  • Allen, D., Riordan-Eva, P., Paterson, R. W., & Hadden, R. D. M. (2013). Subacute peripheral and optic neuropathy syndrome with no evidence of a toxic or nutritional cause. Clinical Neurology and Neurosurgery, 115(8), 1389–1393. https://doi.org/10.1016/j.clineuro.2013.01.002
  • Auer-Grumbach, M., Toegel, S., Schabhüttl, M., Weinmann, D., Chiari, C., Bennett, D. L. H., Beetz, C., Klein, D., Andersen, P. M., Böhme, I., Fink-Puches, R., Gonzalez, M., Harms, M. B., Motley, W., Reilly, M. M., Renner, W., Rudnik-Schöneborn, S., Schlotter-Weigel, B., Themistocleous, A. C., … Senderek, J. (2016). Rare variants in MME, encoding metalloprotease neprilysin, are linked to late-onset autosomal-dominant axonal polyneuropathies. American Journal of Human Genetics, 99(3), 607–623. https://doi.org/10.1016/j.ajhg.2016.07.008
  • Bansagi, B., Antoniadi, T., Burton-Jones, S., Murphy, S. M., McHugh, J., Alexander, M., Wells, R., Davies, J., Hilton-Jones, D., Lochmüller, H., Chinnery, P., & Horvath, R. (2015). Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland. Journal of Neurology, 262(8), 1899–1908. https://doi.org/10.1007/s00415-015-7778-4
  • Borrajero, I., Pérez, J. L., Domínguez, C., Chong, A., Coro, R. M., Rodríguez, H., Gómez, N., Román, G. C., & Navarro-Román, L. (1994). Epidemic neuropathy in Cuba: Morphological characteristics of peripheral nerve lesions in sural nerve biopsies. Journal of the Neurological Sciences, 127(1), 68–76. https://doi.org/10.1016/0022-510x(94)90137-6
  • Braunisch, M. C., Gallwitz, H., Abicht, A., Diebold, I., Holinski-Feder, E., Van Maldergem, L., Lammens, M., Kovács-Nagy, R., Alhaddad, B., Strom, T. M., Meitinger, T., Senderek, J., Rudnik-Schöneborn, S., & Haack, T. B. (2018). Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. Clinical Genetics, 93(2), 255–265. https://doi.org/10.1111/cge.13084
  • Castori, M., Morlino, S., Ungelenk, M., Pareyson, D., Salsano, E., Grammatico, P., Tolosano, E., Kurth, I., & Chiabrando, D. (2017). Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics, 174(7), 732–739. https://doi.org/10.1002/ajmg.b.32570
  • Catania, A., Peverelli, L., Tabano, S., Ghezzi, D., & Lamperti, C. (2019). DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E). Neurological Sciences: Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 40(9), 1963–1966. https://doi.org/10.1007/s10072-019-03859-7
  • Choi, B. O., Kang, S. H., Hyun, Y. S., Kanwal, S., Park, S. W., Koo, H., Kim, S. B., Choi, Y. C., Yoo, J. H., Kim, J. W., Park, K. D., Choi, K. G., Kim, S. J., Züchner, S., & Chung, K. W. (2011). A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. Human Mutation, 32(6), 669–677. https://doi.org/10.1002/humu.21488
  • Choi, B. O., Nakhro, K., Park, H. J., Hyun, Y. S., Lee, J. H., Kanwal, S., Jung, S. C., & Chung, K. W. (2015). A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients. Clinical Genetics, 87(6), 594–598. https://doi.org/10.1111/cge.12432
  • Dorison, N., Gaignard, P., Bayot, A., Gelot, A., Becker, P. H., Fourati, S., Lebigot, E., Charles, P., Wai, T., Therond, P., & Slama, A. (2020). Mitochondrial dysfunction caused by novel ATAD3A mutations. Molecular Genetics and Metabolism, 131(1-2), 107–113. https://doi.org/10.1016/j.ymgme.2020.09.002
  • Drew, A. P., Zhu, D., Kidambi, A., Ly, C., Tey, S., Brewer, M. H., Ahmad-Annuar, A., Nicholson, G. A., & Kennerson, M. L. (2015). Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Molecular Genetics & Genomic Medicine, 3(2), 143–154. https://doi.org/10.1002/mgg3.126
  • Duquette, A., Roddier, K., McNabb-Baltar, J., Gosselin, I., St-Denis, A., Dicaire, M. J., Loisel, L., Labuda, D., Marchand, L., Mathieu, J., Bouchard, J. P., & Brais, B. (2005). Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Annals of Neurology, 57(3), 408–414. https://doi.org/10.1002/ana.20408
  • Esposito, A., Falace, A., Wagner, M., Gal, M., Mei, D., Conti, V., Pisano, T., Aprile, D., Cerullo, M. S., De Fusco, A., Giovedì, S., Seibt, A., Magen, D., Polster, T., Eran, A., Stenton, S. L., Fiorillo, C., Ravid, S., Mayatepek, E., … Guerrini, R. (2019). Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. Brain: A Journal of Neurology, 142(12), 3876–3891. https://doi.org/10.1093/brain/awz326 Erratum in: Brain. 2020 Feb 1;143(2):e16.
  • Fu, J., Ma, M., Li, G., & Zhang, J. (2022). Clinical and genetic features of Chinese patients with NIPA1-related hereditary spastic paraplegia type 6. Frontiers in Genetics, 13, 859688. https://doi.org/10.3389/fgene.2022.859688
  • 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
  • Gillespie, M. K., McMillan, H. J., Kernohan, K. D., Pena, I. A., Meyer-Schuman, R., Antonellis, A., Boycott, K. M., & Care4Rare Canada Consortium. (2019). A novel mutation in MARS in a patient with Charcot-Marie-Tooth disease, axonal, type 2U with congenital onset. Journal of Neuromuscular Diseases, 6(3), 333–339. https://doi.org/10.3233/JND-190404
  • Grudzinska Pechhacker, M. K., Yoon, G., Hazrati, L. N., Maynes, J., MacDonald, H., Tavares, E., Vincent, A., & Heon, E. (2020). FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy. European Journal of Medical Genetics, 63(11), 104037. https://doi.org/10.1016/j.ejmg.2020.104037
  • Halperin, D., Drabkin, M., Wormser, O., Yogev, Y., Dolgin, V., Shorer, Z., Gradstein, L., Shelef, I., Flusser, H., & Birk, O. S. (2020). Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome. American Journal of Medical Genetics. Part A, 182(6), 1506–1512. https://doi.org/10.1002/ajmg.a.61577
  • Hirano, R., Takashima, H., Umehara, F., Arimura, H., Michizono, K., Okamoto, Y., Nakagawa, M., Boerkoel, C. F., Lupski, J. R., Osame, M., & Arimura, K. (2004). SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Neurology, 63(3), 577–580. https://doi.org/10.1212/01.wnl.0000133211.40288.9a
  • Hu, M., Jex, A. R., Campbell, B. E., & Gasser, R. B. (2007). Long PCR amplification of the entire mitochondrial genome from individual helminths for direct sequencing. Nature Protocols, 2(10), 2339–2344. https://doi.org/10.1038/nprot.2007.358
  • Jacquier, A., Ribault, S., Mendes, M., Lacoste, N., Risson, V., Carras, J., Latour, P., Nadaj-Pakleza, A., Stojkovic, T., & Schaeffer, L. (2022). Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy. Human Mutation, 43(12), 1898–1908. https://doi.org/10.1002/humu.24445
  • Kashiki, T., Kido, J., Momosaki, K., Kusunoki, S., Ozasa, S., Nomura, K., Imai-Okazaki, A., Tsuruoka, T., Murayama, K., Koga, Y., & Nakamura, K. (2022). Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report. Brain & Development, 44(1), 56–62. https://doi.org/10.1016/j.braindev.2021.08.005
  • Kirby, D. M., Thorburn, D. R., Turnbull, D. M., & Taylor, R. W. (2007). Biochemical assays of respiratory chain complex activity. Methods in Cell Biology, 80, 93–119. https://doi.org/10.1016/S0091-679X(06)80004-X
  • Komulainen, T., Hinttala, R., Kärppä, M., Pajunen, L., Finnilä, S., Tuominen, H., Rantala, H., Hassinen, I., Majamaa, K., & Uusimaa, J. (2010). POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype. BMC Neurology, 10(1), 29. https://doi.org/10.1186/1471-2377-10-29
  • Lerat, J., Cintas, P., Beauvais-Dzugan, H., Magdelaine, C., Sturtz, F., & Lia, A. S. (2017). A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature. Journal of the Peripheral Nervous System: JPNS, 22(2), 77–84. https://doi.org/10.1111/jns.12216
  • Li, M., Mei, L., He, C., Chen, H., Cai, X., Liu, Y., Tian, R., Tian, Q., Song, J., Jiang, L., Liu, C., Wu, H., Li, T., Liu, J., Li, X., Yi, Y., Yan, D., Blanton, S. H., Hu, Z., … Feng, Y. (2019). Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 21(12), 2744–2754. https://doi.org/10.1038/s41436-019-0594-y
  • Lin, Z., Li, J., Ji, T., Wu, Y., Gao, K., & Jiang, Y. (2021). ATP1A1 de novo mutation-related disorders: Clinical and genetic features. Frontiers in Pediatrics, 9, 657256. https://doi.org/10.3389/fped.2021.657256
  • Liu, X., Zhang, S. S., Fang, D. F., Ma, M. Y., Guo, X. Y., Yang, Y., & Shang, H. F. (2010). GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia. Movement Disorders: Official Journal of the Movement Disorder Society, 25(4), 447–451. https://doi.org/10.1002/mds.22976
  • Liu, Y. H., Zhang, H. F., Jin, J. Y., Wei, Y. Q., Wang, C. Y., Fan, L. L., & Liu, L. (2021). Case report: A homozygous mutation (p.Y62X) of phospholipase D3 may lead to a new leukoencephalopathy syndrome. Frontiers in Aging Neuroscience, 13, 671296. https://doi.org/10.3389/fnagi.2021.671296
  • Madhusudanan, M., Menon, M. K., Ummer, K., & Radhakrishnanan, K. (2008). Clinical and etiological profile of tropical ataxic neuropathy in Kerala, South India. European Neurology, 60(1), 21–26. https://doi.org/10.1159/000127975
  • Manganelli, F., Parisi, S., Nolano, M., Tao, F., Paladino, S., Pisciotta, C., Tozza, S., Nesti, C., Rebelo, A. P., Provitera, V., Santorelli, F. M., Shy, M. E., Russo, T., Zuchner, S., & Santoro, L. (2017). Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. Neurology, 88(22), 2132–2140. https://doi.org/10.1212/WNL.0000000000003992
  • Manole, A., Horga, A., Gamez, J., Raguer, N., Salvado, M., San Millán, B., Navarro, C., Pittmann, A., Reilly, M. M., & Houlden, H. (2017). SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. Neurogenetics, 18(1), 63–67. https://doi.org/10.1007/s10048-016-0505-1
  • Masnada, S., Previtali, R., Erba, P., Beretta, E., Camporesi, A., Chiapparini, L., Doneda, C., Iascone, M., Sartorio, M. U. A., Spaccini, L., Veggiotti, P., Osio, M., Tonduti, D., & Moroni, I. (2023). FDXR-associated disease: A challenging differential diagnosis with inflammatory peripheral neuropathy. Neurological Sciences: Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 44(9), 3037–3043. https://doi.org/10.1007/s10072-023-06790-0
  • Mehta, S., Goel, A., Singh, D., Ray, S., Tigari, B., Takkar, A., & Lal, V. (2022). Dystonia and optic neuropathy: Expanded phenotype of dynactin 1 related neurodegeneration. Movement Disorders Clinical Practice, 9(4), 535–539. https://doi.org/10.1002/mdc3.13424
  • Milone, M., Massie, R., (2010). Polymerase gamma 1 mutations: Clinical correlations. The Neurologist, 16(2), 84–91. https://doi.org/10.1097/NRL.0b013e3181c78a89
  • Montecchiani, C., Pedace, L., Lo Giudice, T., Casella, A., Mearini, M., Gaudiello, F., Pedroso, J. L., Terracciano, C., Caltagirone, C., Massa, R., St George-Hyslop, P. H., Barsottini, O. G., Kawarai, T., & Orlacchio, A. (2016). ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain: A Journal of Neurology, 139(Pt 1), 73–85. https://doi.org/10.1093/brain/awv320
  • Montgomery, R. D., Cruickshank, E. K., Robertson, W. B., & McMenemey, W. H. (1964). Clinical and pathological observations on Jamaican neuropathy, a report on 206 cases. Brain: A Journal of Neurology, 87(3), 425–462. https://doi.org/10.1093/brain/87.3.425
  • Nagappa, M., Sharma, S., Govindaraj, P., Chickabasaviah, Y. T., Siram, R., Shroti, A., Debnath, M., Sinha, S., Bindu, P. S., & Taly, A. B. (2020). PMP22 gene-associated neuropathies: Phenotypic spectrum in a cohort from India. Journal of Molecular Neuroscience: MN, 70(5), 778–789. https://doi.org/10.1007/s12031-020-01488-w
  • Nakhro, K., Park, J. M., Hong, Y. B., Park, J. H., Nam, S. H., Yoon, B. R., Yoo, J. H., Koo, H., Jung, S. C., Kim, H. L., Kim, J. Y., Choi, K. G., Choi, B. O., & Chung, K. W. (2013). SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology, 81(2), 165–173. https://doi.org/10.1212/WNL.0b013e31829a3421
  • Netto, A. B., Netto, C. M., Mahadevan, A., Taly, A. B., & Agadi, J. B. (2016). Tropical ataxic neuropathy - A century old enigma. Neurology India, 64(6), 1151–1159. https://doi.org/10.4103/0028-3886.193755
  • Nibbeling, E. A. R., Duarri, A., Verschuuren-Bemelmans, C. C., Fokkens, M. R., Karjalainen, J. M., Smeets, C. J. L. M., de Boer-Bergsma, J. J., van der Vries, G., Dooijes, D., Bampi, G. B., van Diemen, C., Brunt, E., Ippel, E., Kremer, B., Vlak, M., Adir, N., Wijmenga, C., van de Warrenburg, B. P. C., Franke, L., Sinke, R. J., & Verbeek, D. S. (2017). Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain: A Journal of Neurology, 140(11), 2860–2878. https://doi.org/10.1093/brain/awx251
  • Nwebube, C., Bulancea, S., Marchidann, A., Bello-Espinosa, L., & Treidler, S. (2021). Erythromelalgia: A child with V400M mutation in the SCN9A gene. Neurology. Genetics, 7(2), e570. https://doi.org/10.1212/NXG.0000000000000570
  • Osuntokun, B. O. (1994). Chronic cyanide intoxication of dietary origin and a degenerative neuropathy in Nigerians. Acta Horticulturae, 375(375), 311–322. https://doi.org/10.17660/ActaHortic.1994.375.31
  • Pandolfo, M., Rai, M., Remiche, G., Desmyter, L., & Vandernoot, I. (2020). Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation. Neurology. Genetics, 6(3), e420. https://doi.org/10.1212/NXG.0000000000000420
  • Paradas, C., Gutiérrez Ríos, P., Rivas, E., Carbonell, P., Hirano, M., & DiMauro, S. (2013). TK2 mutation presenting as indolent myopathy. Neurology, 80(5), 504–506. https://doi.org/10.1212/WNL.0b013e31827f0ff7
  • Pareyson, D., Piscosquito, G., Moroni, I., Salsano, E., & Zeviani, M. (2013). Peripheral neuropathy in mitochondrial disorders. The Lancet Neurology, 12(10), 1011–1024. https://doi.org/10.1016/S1474-4422(13)70158-3
  • Paul, A., Drecourt, A., Petit, F., Deguine, D. D., Vasnier, C., Oufadem, M., Masson, C., Bonnet, C., Masmoudi, S., Mosnier, I., Mahieu, L., Bouccara, D., Kaplan, J., Challe, G., Domange, C., Mochel, F., Sterkers, O., Gerber, S., Nitschke, P., … Marlin, S. (2017). FDXR mutations cause sensorial neuropathies and expand the spectrum of mitochondrial Fe-S-synthesis diseases. American Journal of Human Genetics, 101(4), 630–637. https://doi.org/10.1016/j.ajhg.2017.09.007
  • Peng, Y., Ye, W., Chen, Z., Peng, H., Wang, P., Hou, X., Wang, C., Zhou, X., Hou, X., Li, T., Qiu, R., Hu, Z., Tang, B., & Jiang, H. (2018). Identifying SYNE1 ataxia with novel mutations in a Chinese population. Frontiers in Neurology, 9, 1111. https://doi.org/10.3389/fneur.2018.01111
  • Pollak, A., Lechowicz, U., Kędra, A., Stawiński, P., Rydzanicz, M., Furmanek, M., Brzozowska, M., Mrówka, M., Skarżyński, H., Skarżyński, P. H., Ołdak, M., & Płoski, R. (2016). Novel and de novo mutations extend association of POU3F4 with distinct clinical and radiological phenotype of hearing loss. PLoS One, 11(12), e0166618. https://doi.org/10.1371/journal.pone.0166618
  • Pozner, T., Regensburger, M., Engelhorn, T., Winkler, J., & Winner, B. (2020). Janus-faced spatacsin (SPG11): Involvement in neurodevelopment and multisystem neurodegeneration. Brain: A Journal of Neurology, 143(8), 2369–2379. https://doi.org/10.1093/brain/awaa099
  • Rabbani, B., Bakhshandeh, M. K., Navaeifar, M. R., Abbaskhanian, A., Soveizi, M., Geravandpoor, S., & Mahdieh, N. (2020). Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses. Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia, 72, 342–349. https://doi.org/10.1016/j.jocn.2020.01.040
  • Raju, S., Medarametla, S., & Boraiah, N. (2021). Dystonia and hereditary motor sensory neuropathy 6B due to SLC25A46 gene mutations. Movement Disorders Clinical Practice, 8(3), 480–482. https://doi.org/10.1002/mdc3.13139
  • Riazuddin, S., Khan, S. N., Ahmed, Z. M., Ghosh, M., Caution, K., Nazli, S., Kabra, M., Zafar, A. U., Chen, K., Naz, S., Antonellis, A., Pavan, W. J., Green, E. D., Wilcox, E. R., Friedman, P. L., Morell, R. J., Riazuddin, S., & Friedman, T. B. (2006). Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. American Journal of Human Genetics, 78(1), 137–143. https://doi.org/10.1086/499164Epub 2005 Nov 21.
  • Rice, G. I., Kasher, P. R., Forte, G. M., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., Dickerson, J. E., Bhaskar, S. S., Zampini, M., Briggs, T. A., Jenkinson, E. M., Bacino, C. A., Battini, R., Bertini, E., Brogan, P. A., Brueton, L. A., Carpanelli, M., De Laet, C., de Lonlay, P., … Crow, Y. J. (2012). Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nature Genetics, 44(11), 1243–1248. https://doi.org/10.1038/ng.2414
  • Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., Rehm, H. L., & ACMG Laboratory Quality Assurance Committee (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 17(5), 405–424. https://doi.org/10.1038/gim.2015.30
  • Román, G. C., Spencer, P. S., & Schoenberg, B. S. (1985). Tropical myeloneuropathies: The hidden endemias. Neurology, 35(8), 1158–1170. https://doi.org/10.1212/wnl.35.8.1158
  • Schoen, C. J., Emery, S. B., Thorne, M. C., Ammana, H. R., Sliwerska, E., Arnett, J., Hortsch, M., Hannan, F., Burmeister, M., & Lesperance, M. M. (2010). Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. Proceedings of the National Academy of Sciences of the United States of America, 107(30), 13396–13401. https://doi.org/10.1073/pnas.1003027107
  • Sivera, R., Lupo, V., Frasquet, M., Argente-Escrig, H., Alonso-Pérez, J., Díaz-Manera, J., Querol, L., Del Mar García-Romero, M., Ignacio Pascual, S., García-Sobrino, T., Paradas, C., Francisco Vázquez-Costa, J., Muelas, N., Millet, E., Jesús Vílchez, J., Espinós, C., & Sevilla, T. (2021). Charcot-Marie-Tooth disease due to MORC2 mutations in Spain. European Journal of Neurology, 28(9), 3001–3011. https://doi.org/10.1111/ene.15001
  • Sperfeld, A. D., Hein, C., Schröder, J. M., Ludolph, A. C., & Hanemann, C. O. (2002). Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2. Brain: A Journal of Neurology, 125(Pt 5), 996–1004. https://doi.org/10.1093/brain/awf115
  • Strachan, E. L., Mac White-Begg, D., Crean, J., Reynolds, A. L., Kennedy, B. N., & O'Sullivan, N. C. (2021). The role of mitochondria in optic atrophy with autosomal inheritance. Frontiers in Neuroscience, 15, 784987. https://doi.org/10.3389/fnins.2021.784987
  • Su, T., Yan, Y., Hu, Q., Liu, Y., & Xu, S. (2022). De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations. Molecular Genetics & Genomic Medicine, 10(3), e1874. https://doi.org/10.1002/mgg3.1874
  • Tata, B., Huijbregts, L., Jacquier, S., Csaba, Z., Genin, E., Meyer, V., Leka, S., Dupont, J., Charles, P., Chevenne, D., Carel, J. C., Léger, J., & de Roux, N. (2014). Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse. PLoS Biology, 12(9), e1001952. https://doi.org/10.1371/journal.pbio.1001952
  • Tazir, M., Nouioua, S., Magy, L., Huehne, K., Assami, S., Urtizberea, A., Grid, D., Hamadouche, T., Rautenstrauss, B., & Vallat, J. M. (2009). Phenotypic variability in giant axonal neuropathy. Neuromuscular Disorders: NMD, 19(4), 270–274. https://doi.org/10.1016/j.nmd.2009.01.011
  • Van Daele, S. H., Moisse, M., Race, V., Van Eesbeeck, A., Keldermans, L., Vermeer, S., Van Esch, H., Claeys, K. G., & Van Damme, P. (2022). RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement. European Journal of Neurology, 29(1), 345–349. https://doi.org/10.1111/ene.15091
  • Vill, K., Müller-Felber, W., Gläser, D., Kuhn, M., Teusch, V., Schreiber, H., Weis, J., Klepper, J., Schirmacher, A., Blaschek, A., Wiessner, M., Strom, T. M., Dräger, B., Hofmeister-Kiltz, K., Tacke, M., Gerstl, L., Young, P., Horvath, R., & Senderek, J. (2018). SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. Human Genetics, 137(11-12), 911–919. https://doi.org/10.1007/s00439-018-1952-6
  • Weiss, M. D., & Saneto, R. P. Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. Muscle Nerve, (2010). 41, 882–885. https://doi.org/10.1097/NRL.0b013e3181c78a89
  • Xu, W. Y., Gu, M. M., Sun, L. H., Guo, W. T., Zhu, H. B., Ma, J. F., Yuan, W. T., Kuang, Y., Ji, B. J., Wu, X. L., Chen, Y., Zhang, H. X., Sun, F. T., Huang, W., Huang, L., Chen, S. D., & Wang, Z. G. (2012). A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. American Journal of Human Genetics, 91(6), 1088–1094. https://doi.org/10.1016/j.ajhg.2012.09.018
  • Yuan, J. H., Hashiguchi, A., Yoshimura, A., Sakai, N., Takahashi, M. P., Ueda, T., Taniguchi, A., Okamoto, S., Kanazawa, N., Yamamoto, Y., Saigoh, K., Kusunoki, S., Ando, M., Hiramatsu, Y., Okamoto, Y., & Takashima, H. (2017). WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study. Clinical Genetics, 92(6), 659–663. https://doi.org/10.1111/cge.13037
  • Zhan, Y., Luo, S., Pi, Z., & Zhang, G. (2020). A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia. Hereditas, 157(1), 34. https://doi.org/10.1186/s41065-020-00148-8
  • Zhang, J., Wang, H., Liu, W., Wang, J., Zhang, J., Chang, X., Huang, S., Pang, X., Guo, J., Wang, Q., & Zhang, W. (2021). A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family. Neurological Sciences: Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 42(9), 3695–3705. https://doi.org/10.1007/s10072-020-04962-w
  • Zhao, Y., Zhao, F., Zong, L., Zhang, P., Guan, L., Zhang, J., Wang, D., Wang, J., Chai, W., Lan, L., Li, Q., Han, B., Yang, L., Jin, X., Yang, W., Hu, X., Wang, X., Li, N., Li, Y., … Wang, Q. (2013). Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss. PLoS One, 8(7), e69549. https://doi.org/10.1371/journal.pone.0069549

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