Phenotypic Variability and Diagnostic Characteristics in Inherited Peripheral Neuropathy in Latvia

Attarian, S., Vallat, J.-M., Magy, L., Funalot, B., Gonnaud, P.-M., Lacour, A., Péréon, Y., Dubourg, O., Pouget, J., Micallef, J., et al. (2014). 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., 9, 199.10.1186/s13023-014-0199-0431141125519680 Search in Google Scholar

Azevedo, H., Pupe, C., Pereira, R., Nascimento, O. (2018). Pain in Charcot-Marie-Tooth disease: An update. Arquivos de Neuro-Psiquiatria, 76, 273–276.10.1590/0004-282x2018002129742248 Search in Google Scholar

Bacquet, J., Stojkovic, T., Boyer, A., Martini, N., Audic, F., Chabrol, B., Salort-Campana, E., Delmont, E., Desvignes, J.-P., Verschueren, A., et al. (2018). Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: Molecular spectrum delineation. BMJ Open, 8 (10), e021632–e021632.10.1136/bmjopen-2018-021632622471430373780 Search in Google Scholar

Bird, T. D. (2019). Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 1. Clinical Characteristics of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy. GeneReviews, 1–22. https://www.ncbi.nlm.nih.gov/books/NBK1358/ (accessed 12.03.2022). Search in Google Scholar

Bjelica, B., Peric, S., Basta, I., Bozovic, I., Kacar, A., Marjanovic, A., Ivanovic, V., Brankovic, M., Jankovic, M., Novakovic, I., et al. (2020). Neuropathic pain in patients with Charcot-Marie-Tooth type 1A. Neurological Sciences, 41 (3), 625–630.10.1007/s10072-019-04142-531729581 Search in Google Scholar

Chanson, J.-B., Echaniz-Laguna, A., Blanc, F., Lacour, A., Ballonzoli, L., Kremer, S., Namer, I.-J., Lannes, B., Tranchant, C., Vermersch, P., et al. (2013). Central nervous system abnormalities in patients with PMP22 gene mutations: A prospective study. J. Neurol. Neurosurg. Psychiatry, 84 (4), 392–397.10.1136/jnnp-2012-30372523243264 Search in Google Scholar

Cornett, K. M. D., Menezes, M. P., Bray, P., Halaki, M., Shy, R. R., Yum, S. W., Estilow, T., Moroni, I., Foscan, M., Pagliano, et al. (2016). Phenotypic variability of childhood Charcot-Marie-Tooth disease. JAMA Neurology, 73 (6), 645–651.10.1001/jamaneurol.2016.0171491686127043305 Search in Google Scholar

Corrado, B., Ciardi, G., Bargigli, C. (2016). Rehabilitation management of the Charcot-Marie-Tooth Syndrome: A systematic review of the literature. Medicine, 95 (17), e3278–e3278.10.1097/MD.0000000000003278499868027124017 Search in Google Scholar

Daniel, A., G.-E., Carmen, C.-R., Guillermo, O.-A. (2019). Charcot-Marie-Tooth disease Type 1A and inflammatory-demyelinating lesions in the central nervous system. Int. J. Neurol. Neurother., 6 (1), 1–4.10.23937/2378-3001/1410080 Search in Google Scholar

Fridman, V., Bundy, B., Reilly, M. M., Pareyson, D., Bacon, C., Burns, J., Day, J., Feely, S., Finkel, R. S., Grider, et al. (2015). CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: A cross-sectional analysis. J. Neurol. Neurosurg. Psychiatry, 86 (8), 873–878.10.1136/jnnp-2014-308826451600225430934 Search in Google Scholar

Jeong, N. Y., Shin, Y. H., Jung, J. (2013). Neuropathic pain in hereditary peripheral neuropathy. J. Exercise Rehabil., 9 (4), 397–399.10.12965/jer.130057383654624278891 Search in Google Scholar

Johnson, N. E., Heatwole, C. R., Dilek, N., Sowden, J., Kirk, C. A., Shereff, D., Shy, M. E., Herrmann, D. N. (2014). Quality-of-life in Charcot Marie Tooth disease: The patient’s perspective. Neuromusc. Disord., 24 (11), 1018–1023.10.1016/j.nmd.2014.06.433425387125092060 Search in Google Scholar

Kenis-Coskun, O., Matthews, D. J. (2016). Rehabilitation issues in Charcot-Marie-Tooth disease. J. Pediatric Rehab. Med., 9 (1), 31–34.10.3233/PRM-16035926966798 Search in Google Scholar

Kovale, S., Terauda, R., Millere, E., Taurina, G., Murmane, D., Isakova, J., Kenina, V., Gailite, L. (2021). GJB1 gene analysis in two extended families with X-linked Charcot-Marie-Tooth disease. Case Rep. Neurol., 13 (2), 422–428.10.1159/000515170829937834326750 Search in Google Scholar

Millere, A., Kalnberza-Ribule, Z., Mezals, M., Nulle, A., Millere, I., Deklava, L. (2020). Disability, pain catastrophizing and stress coping of patients with low back pain in rehabilitation practice in Latvia. J. Back Musculoskel. Rehab., 33 (2), 323–328.10.3233/BMR-17094531524136 Search in Google Scholar

Millere, E., Gribuste, L., Kazaine, I., Strautmanis, J., Gailite, L., Kenina, V. (2020). Clinical and neurophysiological spectrum of polyneuropathies in children. Neurologia i Neurochirurgia Polska, 54 (5), 466–470.10.5603/PJNNS.a2020.006832939748 Search in Google Scholar

Millere, E., Kupats, E., Mičule, I., Kazaine, I., Rots, D., Gailīte, L., Šterna, O., Kurjāne, N., Ķēniņa, V. (2019). Neuropathic pain in hereditary peripheral neuropathy: Correlation with clinical, genetic and neurophysiological findings. RSU Research Week Abstract Book 2019, 285. https://conference2019.rsu.lv/sites/default/files/documents/knowledge_for_use_in_practice_abstracts_rev.pdf (accessed 19.03.2022). Search in Google Scholar

Millere, E., Rots, D., Simrén, J., Ashton, N. J., Kupats, E., Micule, I., Priedite, V., Kurjane, N., Blennow, K., Gailite, L., et al. (2021). Plasma neurofilament light chain as a potential biomarker in Charcot-Marie-Tooth disease. Eur. J. Neurol., 28 (3), 974–981.10.1111/ene.1468933340200 Search in Google Scholar

Murphy, S. M., Herrmann, D. N., McDermott, M. P., Scherer, S. S., Shy, M. E., Reilly, M. M., Pareyson, D. (2011). Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J. Peripheral Nervous Syst., 16 (3), 191–198.10.1111/j.1529-8027.2011.00350.x375482822003934 Search in Google Scholar

Padilha, J. P. D., Brasil, C. S., Hoefel, A. M. L., Winckler, P. B., Donis, K. C., Brusius-Facchin, A. C., Saute, J. A. M. (2020). Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies. Clin. Genet., 98 (2), 185–190.10.1111/cge.1379332506583 Search in Google Scholar

Ramchandren, S. (2017). Charcot-Marie-Tooth disease and other genetic polyneuropathies. Continuum (Minneapolis, Minn.), 23 (5, Peripheral Nerve and Motor Neuron Disorders), 1360–1377.10.1212/CON.000000000000052928968366 Search in Google Scholar

Reuter, C. M., Kohler, J. N., Bonner, D., Zastrow, D., Fernandez, L., Dries, A., Marwaha, S., Davidson, J., Brokamp, E., Herzog, M., et al. (2019). Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. J. Gen. Counsel., 28 (6), 1107–1118.10.1002/jgc4.1161690172331478310 Search in Google Scholar

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (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 Med., 17 (5), 405–424.10.1038/gim.2015.30454475325741868 Search in Google Scholar

Rossor, A. M., Shy, M. E., Reilly, M. M. (2020). Are we prepared for clinical trials in Charcot-Marie-Tooth disease? Brain Res., 1729, 146625.10.1016/j.brainres.2019.146625 Search in Google Scholar

Rudnik-Schöneborn, S., Tölle, D., Senderek, J., Eggermann, K., Elbracht, M., Kornak, U., von der Hagen, M., Kirschner, J., Leube, B., Müller-Felber, et al. (2016). Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: Experiences from a German genetic laboratory on the basis of 1206 index patients. Clin. Genet., 89 (1), 34–43.10.1111/cge.1259425850958 Search in Google Scholar

Tao, F., Beecham, G. W., Rebelo, A. P., Blanton, S. H., Moran, J. J., Lopez-Anido, C., Svaren, J., Abreu, L., Rizzo, D., Kirk, C. A., et al. (2019). Modifier gene candidates in Charcot-Marie-Tooth disease Type 1A: A case-only genome-wide association study. J. Neuromusc. Dis., 6 (2), 201–211.10.3233/JND-190377659797430958311 Search in Google Scholar

Theadom, A., Roxburgh, R., MacAulay, E., O’Grady, G., Burns, J., Parmar, P., Jones, K., Rodrigues, M., Group, I. C. M. T. R. (2019). Prevalence of Charcot-Marie-Tooth disease across the lifespan: A population-based epidemiological study. BMJ Open, 9 (6), e029240–e029240.10.1136/bmjopen-2019-029240658583831203252 Search in Google Scholar

Tian, D., Zhao, Y., Zhu, R., Li, Q., Liu, X. (2021). Systematic review of CMTX1 patients with episodic neurological dysfunction. Ann. Clin. Translat. Neurol., 8 (1), 213–223.10.1002/acn3.51271781827833314704 Search in Google Scholar

Woo, A. K. (2010). Depression and anxiety in pain. Rev. Pain, 4 (1), 8–12.10.1177/204946371000400103459005926527193 Search in Google Scholar