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The consequences of a genetic defect affecting a component of this delicate mechanism are quite harmful, characterized by a cascade of premature aging that injures a variety of organs, including the nervous system. One part of the nervous system that is impaired in certain DNA repair disorders is the peripheral nerve. Chronic motor, sensory, and sensorimotor polyneuropathies have all been observed in affected individuals, with specific physiologies associated with different categories of DNA repair disorders. Cockayne syndrome has classically been linked to demyelinating polyneuropathies, whereas xeroderma pigmentosum has long been associated with axonal polyneuropathies. Three additional recessive DNA repair disorders are associated with neuropathies, including trichothiodystrophy, Werner syndrome, and ataxia\u2010telangiectasia. Although plausible biological explanations exist for why the peripheral nerves are specifically vulnerable to impairments of DNA repair, specific mechanisms such as oxidative stress remain largely unexplored in this context, and bear further study. It is also unclear why different DNA repair disorders manifest with different types of neuropathy, and why neuropathy is not universally present in those diseases. Longitudinal physiological monitoring of these neuropathies with serial electrodiagnostic studies may provide valuable noninvasive outcome data in the context of future natural history studies, and thus the responses of these neuropathies may become sentinel outcome measures for future clinical trials of treatments currently in development such as adeno\u2010associated virus gene replacement therapies.<\/jats:p>","DOI":"10.1002\/mus.27721","type":"journal-article","created":{"date-parts":[[2022,10,3]],"date-time":"2022-10-03T14:08:42Z","timestamp":1664806122000},"page":"101-110","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Peripheral neuropathies associated with <scp>DNA<\/scp> repair disorders"],"prefix":"10.1002","volume":"67","author":[{"given":"Melissa","family":"Maguina","sequence":"first","affiliation":[{"name":"Medical Education Program Nova Southeastern University  Fort Lauderdale Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4270-7325","authenticated-orcid":false,"given":"Peter B.","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center University of Minnesota Medical School  Minneapolis Minnesota"},{"name":"Institute for Translational Neuroscience, University of Minnesota Medical School  Minneapolis Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ang\u2010Chen","family":"Tsai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Florida College of Medicine  Gainesville Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7430-124X","authenticated-orcid":false,"given":"Christina A.","family":"Pacak","sequence":"additional","affiliation":[{"name":"Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center University of Minnesota Medical School  Minneapolis Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,10,3]]},"reference":[{"key":"e_1_2_11_2_1","volume-title":"Neuropathies associated with hereditary disorders","author":"Kang P","year":"2020"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1155\/2016\/3164734"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.21126"},{"key":"e_1_2_11_5_1","unstructured":"ChangC.DNA repair. 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