ArticleActa neuropathologica communications2013
The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).
Article in Acta neuropathologica communications, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 50 citations in OpenAlex.
- Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature.Movement disorders : official journal of the Movement Disorder Society · 2026Review
- Th17 cells require the DNA repair sensor xeroderma pigmentosum complementation Group C to control oxidative DNA damage in a murine model.Nature communications · 2026Article
- Skin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.International journal of molecular sciences · 2025Review
- POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments.European journal of human genetics : EJHG · 2025Article
- Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.PLoS genetics · 2024Article
- Peripheral neuropathies associated with DNA repair disorders.Muscle & nerve · 2023Review
- Xeroderma pigmentosum: an updated review.Drugs in context · 2022Review
- Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.BMC neurology · 2021Article
- Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging.Journal of endocrinological investigation · 2021Article
- Xeroderma Pigmentosum: A Model for Human Premature Aging.The Journal of investigative dermatology · 2021Review
- Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A.Frontiers in genetics · 2021Article
- Review
- Predisposition to hematologic malignancies in patients with xeroderma pigmentosum.Haematologica · 2020Article
- Reproductive Health in Xeroderma Pigmentosum: Features of Premature Aging.Obstetrics and gynecology · 2019Article
- Autopsy findings and clinical features of a mild-type xeroderma pigmentosum complementation group A siblings: 40 years of follow-up.JAAD case reports · 2019Article
- Macular and Retinal Nerve Fibre Layer Thinning in Xeroderma Pigmentosum: A Cross-sectional Study.Neuro-ophthalmology (Aeolus Press) · 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
- DNA damage in the oligodendrocyte lineage and its role in brain aging.Mechanisms of ageing and development · 2017Review
- Mutations in Cockayne Syndrome-Associated Genes (Csa and Csb) Predispose to Cisplatin-Induced Hearing Loss in Mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- Modeling xeroderma pigmentosum associated neurological pathologies with patients-derived iPSCs.Protein & cell · 2016Article
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Authors and funding
20 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundTo investigate the association of DNA nucleotide excision repair (NER) defects with neurological degeneration, cachexia and cancer, we performed autopsies on 4 adult xeroderma pigmentosum (XP) patients with different clinical features and defects in NER complementation groups XP-A, XP-C or XP-D.
resultsThe XP-A (XP12BE) and XP-D (XP18BE) patients exhibited progressive neurological deterioration with sensorineural hearing loss. The clinical spectrum encompassed severe cachexia in the XP-A (XP12BE) patient, numerous skin cancers in the XP-A and two XP-C (XP24BE and XP1BE) patients and only few skin cancers in the XP-D patient. Two XP-C patients developed internal neoplasms including glioblastoma in XP24BE and uterine adenocarcinoma in XP1BE. At autopsy, the brains of the 44 yr XP-A and the 45 yr XP-D patients were profoundly atrophic and characterized microscopically by diffuse neuronal loss, myelin pallor and gliosis. Unlike the XP-A patient, the XP-D patient had a thickened calvarium, and the brain showed vacuolization of the neuropil in the cerebrum, cerebellum and brainstem, and patchy Purkinje cell loss. Axonal neuropathy and chronic denervation atrophy of the skeletal muscles were observed in the XP-A patient, but not in the XP-D patient.
conclusionsThese clinical manifestations and autopsy findings indicate advanced involvement of the central and peripheral nervous system. Despite similar defects in DNA repair, different clinicopathological phenotypes are seen in the four cases, and therefore distinct patterns of neurodegeneration characterize XP-D, XP-A and XP-C patients.
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