ArticleOtology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology2013
Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration.
Article in Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- Beyond Nucleotide Excision Repair: The Importance of XPF in Base Excision Repair and Its Impact on Cancer, Inflammation, and Aging.International journal of molecular sciences · 2024Review
- Noise Stress Abrogates Structure-Specific Endonucleases within the Mammalian Inner Ear.International journal of molecular sciences · 2024Article
- Chemiexcitation: Mammalian Photochemistry in the DarkPhotochemistry and photobiology · 2023Review
- Peripheral neuropathies associated with DNA repair disorders.Muscle & nerve · 2023Review
- Xeroderma pigmentosum: an updated review.Drugs in context · 2022Review
- Bilateral cochlear implantation in a young patient with xeroderma pigmentosum (XP-D) and progressive sensorineural hearing loss-How to do it?Journal of surgical case reports · 2022Article
- Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.BMC neurology · 2021Article
- Xeroderma Pigmentosum: A Model for Human Premature Aging.The Journal of investigative dermatology · 2021Review
- Review
- Cochlear histopathology in human genetic hearing loss: State of the science and future prospects.Hearing research · 2019Review
- Chemiexcitation and Its Implications for Disease.Trends in molecular medicine · 2018Review
- Temporal Bone Histopathology in Cockayne Syndrome.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2018Article
- Noise Stress Induces an Epidermal Growth Factor Receptor/Xeroderma Pigmentosum-A Response in the Auditory Nerve.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2017Article
- Hearing Dysfunction inFrontiers in aging neuroscience · 2017Article
- Genetic Modulation of Neurocognitive Function in Glioma Patients.Clinical cancer research : an official journal of the American Association for Cancer Research · 2015Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
introductionXeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations resulting in defective repair of DNA damage. XP patients have a markedly increased risk of ultraviolet-induced neoplasms and premature aging of sun-exposed tissue. Approximately 25% of XP patients in the United States have neurologic abnormalities including progressive sensorineural hearing loss (SNHL).
objectiveTo describe the temporal bone histopathology in 2 individuals with XP (XPA and XPD) with neurologic degeneration and to discuss the possible causes of deafness in these patients.
methodsTemporal bones were removed at autopsy and studied using light microscopy.
resultsIn the case with XPD, the organ of Corti was missing throughout the cochlea, whereas the case with XPA demonstrated scattered presence of sensory cells in the middle and apical turns. In both cases, there was moderate-to-severe patchy atrophy of the stria vascularis in all turns, and cochlear neurons were severely atrophied compared with age-matched controls, with loss of both peripheral dendrites and central axons. There was severe degeneration of Scarpa's ganglion in the case with XPA.
conclusionTwo cases of XP with neurologic degeneration are reported. The case with XPD demonstrated a more severe audiologic phenotype than XPA, although both had similar findings such as atrophy of the organ of Corti, stria vascularis, and spiral ganglia leading to severe or profound SNHL by the third decade of life. It is not clear if the neuronal degeneration in the inner ear was primary or secondary to loss of neuroepithelial cells.
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