The DOI matches its Crossref record; 107 of the 108 references it cites were found in a registry or an index.
Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration
Abstract
Global growth and development failure, premature, accelerated, pathologic aging, and neurodegeneration characterize Cockayne syndrome (CS) and the cerebro-oculo-facial-skeletal and xeroderma pigmentosum/CS syndromes which overlap CS partially in their genetic, somatic, and neuropathologic features. Mutations of CSA or CSB genes jeopardize transcription-coupled repair of damaged nuclear and mitochondrial DNA and resumption of replication and transcription. Resultant defective proteins or gene silencing eventuate in profound dwarfism and micrencephaly, cachexia, vasculopathy, and neurodegeneration. Cellular effects are highly selective. Purkinje cells may die by apoptosis and have grossly dystrophic dendrites. Neuronal death and axonal spheroids indexing neuronal pathology predominate in, but are not limited to, the cerebellum. Progressive loss of retinal, cochlear, and vestibular sensory receptors foster degeneration of ganglion cells and transneuronal brain degeneration. Some proliferating astrocytes are multinucleated and bizarre. Primary damage of oligodendrocytes and Schwann cells may - or may not - explain severe patchy myelin loss ("tigroid leukodystrophy") and segmental demyelinating peripheral neuropathy. Age-related changes are minor in the brain, although precocious severe athero- and arteriolosclerosis are responsible for occasional strokes. Vasculopathology may contribute to myelin loss and to dystrophic mineralization of neurons and vessels, especially in basal ganglia and cerebellum. Understanding the genetics, biochemical, and cellular pathophysiology of these disorders remains fragmentary.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“These include the conditions with mutations in NER pathways (presented in Table 3) such as xeroderma pigmentosum (XP) [149,150], Cockayne syndrome (CS) [151,152], trichothiodystrophy (TTD) [153,154,155,156], UV-sensitive syndrome (UV-SS), and cerebro-oculo-facioskeletal syndrome (COFS) [157,158,159].”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [158]
Citations
Cites
Blessed, G., Tomlinson, B. E., & Roth, M. (1968) · British Journal of Psychiatry · doi:10.1192/bjp.114.512.797 · Cited by 4,117
Molecular Regulation of Adipogenesis
Rosen, E. D., & Spiegelman, B. M. (2000) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.16.1.145 · Cited by 1,310
Age, Neuropathology, and Dementia
Savva, G. M., Wharton, S. B., Ince, P. G., Forster, G., Matthews, F. E., & Brayne, C. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0806142 · Cited by 900
Cockayne syndrome: Review of 140 cases
Nance, M. A., & Berry, S. A. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320420115 · Cited by 806
Phenotype and Course of Hutchinson–Gilford Progeria Syndrome
Merideth, M. A., Gordon, L. B., Clauss, S. B., Sachdev, V., Smith, A. C. M., Perry, M. B., Brewer, C. C., Zalewski, C. K., Kim, H. J., Solomon, B. I., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0706898 · Cited by 740
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
Niedernhofer, L. J., Garinis, G. A., Raams, A., Lalai, A. S., Robinson, A. R., Appeldoorn, E., Odijk, H., Oostendorp, R., Ahmad, A., van Leeuwen, W., et al. (2006) · Nature · doi:10.1038/nature05456 · Cited by 669
Neuropathology of nondemented aging: presumptive evidence for preclinical Alzheimer disease
Price, J. L., McKeel, D. W., Buckles, V. D., Roe, C. M., Xiong, C., Grundman, M., Hansen, L. A., Petersen, R. C., Parisi, J. E., Dickson, D. W., et al. (2009) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2009.04.002 · Cited by 661
Self-citationFriede, R. L. (1989) · Springer eBooks · doi:10.1007/978-3-642-73697-1 · Cited by 607
Newborn screening: toward a uniform screening panel and system—executive summary
Watson, M. S., Mann, M. Y., Lloyd-Puryear, M. A., Rinaldo, P., Howell, R. R., & American College of Medical Genetics Newborn Screening Expert Group (2006) · Pediatrics · doi:10.1542/peds.2005-2633i · Cited by 494
Fousteri, M., & Mullenders, L. H. (2008) · Cell Research · doi:10.1038/cr.2008.6 · Cited by 487
Flagged first, then by citations
1 of the 108 references couldn’t be matched to a known paper.
Research works printed but not linked: 1
- Johnson, 1980, Enlarged oligodendroglial nuclei in Cockayne's syndrome, J. Neuropathol. Exp. Neurol., 39, 364
Cited by
Sorted by citations
Items 101–156 of 156
Ropolo, M., Cappelli, E., Foresta, M., Poggi, A. D., Proietti‐De‐Santis, L., & Fròsina, G. (2011) · IUBMB Life · doi:10.1002/iub.445 · Cited by 4
Blin-Rochemaure, N., Allani-Essid, N., Carlier, R., Laugel, V., & Quijano-Roy, S. (2017) · Archives de Pédiatrie · doi:10.1016/j.arcped.2016.12.015 · Cited by 4
Yousefipour, F., & Mahjoobi, F. (2021) · Clinica Chimica Acta · doi:10.1016/j.cca.2021.08.015 · Cited by 4
DNA tandem lesion: 5′,8-cyclo-2′-deoxyadenosine. The influence on human health
Merecz-Sadowska, A., & Karwowski, B. T. (2016) · Molecular Biology · doi:10.1134/s0026893316050125 · Cited by 4
Genetic and Metabolic Disorders of the White Matter
Vanderver, A. L., & Wolf, N. I. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-37101-8.00099-0 · Cited by 4
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process
Margariti, A., Daniil, P., & Rampias, T. N. (2025) · Life · doi:10.3390/life15111729 · Cited by 3
Novel Presentation of Hemiplegic Migraine in a Patient With Cockayne Syndrome
Carroll, J., Pabst, L. M., Koboldt, D. C., Franklin, S. J., Choi, S. S., Wilson, R. K., & Lo, W. D. (2022) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2022.10.007 · Cited by 3
Sowmini, P., Kumar, M., Velayutham, S., Revathy, G., & Arunan, S. (2018) · Neurology India · doi:10.4103/0028-3886.241349 · Cited by 3
Çelik, M. H., Gagneur, J., Lim, R. G., Wu, J., Thompson, L. M., & Xie, X. S. (2024) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2024.100318 · Cited by 5
Bakalar, D., Tamaiev, J., Zeigler, H. P., & Feinstein, P. G. (2015) · Somatosensory & Motor Research · doi:10.3109/08990220.2015.1086327 · Cited by 3
Endocrinopathies in Leukodystrophy
Szymczuk, V. L., & Merchant, N. (2022) · Current problems in pediatric and adolescent health care · doi:10.1016/j.cppeds.2022.101351 · Cited by 3
DNA Repair Dysfunction and Neurodegeneration: Lessons From Rare Pediatric Disorders
Shabbir, S. H. (2015) · Journal of Child Neurology · doi:10.1177/0883073815592221 · Cited by 3
Pacak, C. A., & Brooks, P. J. (2020) · DNA repair · doi:10.1016/j.dnarep.2020.102788 · Cited by 3
The role of neurogenesis in neurodegenerative diseases: Mechanisms and interventions
Chen, R., Qiu, Z., Luo, Y., Fu, Y., Cui, X., & Jiang, M. (2026) · Ageing Research Reviews · doi:10.1016/j.arr.2026.103160 · Cited by 2
Decoding human longevity: Genetic and molecular insights from accelerated to successful ageing
Cattaneo, M., Carnevali, S., Madeddu, P. R., & Puca, A. A. (2026) · Ageing Research Reviews · doi:10.1016/j.arr.2026.103176 · Cited by 2
DNA Repair, Human Diseases and Aging
Krishnan, V., Liu, B., & Zhou, Z. (2011) · InTech eBooks · doi:10.5772/24565 · Cited by 2
The role of DNA damage and repair in toxicity to postmitotic cells caused by cancer therapies
Vasko, M. R., Shariati, B., & Zanville, N. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-803582-5.00013-9 · Cited by 2
Kajitani, G. S., Tomaz, M. A., Leandro, G. D. S., Quayle, C., Rocha, L. C. M., de Souza, T. A., Moreira, L. M., Rosse, I. C., Menck, C. F. M., & Garcia, C. C. M. (2025) · DNA repair · doi:10.1016/j.dnarep.2025.103861 · Cited by 2
Тандемное повреждение ДНК: 5',8-цикло-2'-дезоксиаденозин, влияние на здоровье человека
Merecz-Sadowska, A., & Karwowski, B. T. (2016) · Molecular Biology · doi:10.7868/s0026898416050128 · Cited by 2
Quayle, C., Menck, C. F. M., & Moreno, K. (2011) · InTech eBooks · doi:10.5772/22946 · Cited by 1
Pediatric retinal degeneration in systemic inherited diseases
Dollfus, H. (2013) · Elsevier eBooks · doi:10.1016/b978-0-7020-4691-9.00045-5 · Cited by 1
A case report of cockayne syndrome- five cases in a single family
Kondadi, P., Siddalingappa, K., Herakal, K. C., & Challagundla, S. (2020) · International Journal of Research in Dermatology · doi:10.18203/issn.2455-4529.intjresdermatol20204571 · Cited by 1
Cockayne syndrome: an uncommon clinical entity
Bhupathi, M., Vittal, C. S. N., Mediboina, A., Rachakonda, S. T., & Aijaz, A. (2023) · International Journal of Contemporary Pediatrics · doi:10.18203/2349-3291.ijcp20232599 · Cited by 1
Hypomyelinating leukodystrophy and movement disorders
Ganguly, J., Sinha, J., Basu, P., Pal, A., Mondal, B., Tiwari, M., & Kumar, H. (2023) · Annals of Movement Disorders · doi:10.4103/aomd.aomd_1_23 · Cited by 1
Notari, D. L., Oldra, S. B., Mariani, M. A., Reolon, C., & Bonatto, D. (2012) · International Journal of Knowledge Discovery in Bioinformatics · doi:10.4018/jkdb.2012070104 · Cited by 1
Mutagenesis, Genetic Disorders and Diseases
Dixit, M., & Kumar, A. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-809252-1.00001-8 · Cited by 1
Leonhard, L., Brewer, K., & Roche, J. P. (2021) · Annals of Otology Rhinology & Laryngology · doi:10.1177/00034894211019518 · Cited by 1
Oska, S. R., Tamura, D., Blau, J. E., Khan, S. G., Kraemer, K. H., & DiGiovanna, J. J. (2021) · Pediatric Dermatology · doi:10.1111/pde.14655 · Cited by 1
Retinal dystrophies with systemic associations and the retinal ciliopathies
Dollfus, H. (2017) · Elsevier eBooks · doi:10.1016/b978-0-7020-6616-0.00047-5 · Cited by 1
Ketones facilitate transcriptional resolution of secondary DNA structures in premature agingPreprint
Petr, M. A., Carmona-Marin, L. M., Tulika, T., Kristensen, S. M., Reves, S., Bakula, D., Keijzers, G., Osborne, B., Mitchell, S. J., Hamilton, S., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.03.08.483430 · Cited by 1
Vessoni, A. T. (2015) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.42.2015.tde-06102015-200543
The Skin and Neurologic Disease
Hurko, O. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-407710-2.00021-7
Use of Induced Pluripotent Stem Cells in Aging Research
Isobe, K. (2015) · Springer eBooks · doi:10.1007/978-4-431-55763-0_4
Excision repair deficiencies in man and mice; lessons from CSA and Fen1 mutants
Kleppa, L. (2011) · NORA - Norwegian Open Research Archives
Perspectives in Pediatric Pathology, Chapter 17. Other Hypergonadotropic Hypogonadisms
Nistal, M., Paniagua, R., González‐Peramato, P., & Reyes‐Múgica, M. (2016) · Pediatric and Developmental Pathology · doi:10.2350/16-01-1755-pb.1
Gruntman, A. M. (2016) · The Journal of the American Medical Association (JAMA) Network (American Medical Association) · doi:10.13028/m2bc7p
Paths to the making of an academic clinical investigator—Part 2
Rapin, I. (2011) · Brain and Development · doi:10.1016/j.braindev.2011.02.006
Self-citationMangalhara, K. C., & Bamezai, R. N. K. (2019) · Springer eBooks · doi:10.1007/978-981-13-3585-3_11
Wilmshurst, J. M., Ciarlini, P. D. S. C., & Girolami, U. D. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-417044-5.00005-6
Cockayne Syndrome with ERCC8 Gene Mutation: A Case Report
Fatema, K., Rahman, M., & Akhter, S. (2021) · Bangladesh Journal of Child Health · doi:10.3329/bjch.v44i3.52713
Schröder, J. M. (2011) · Springer eBooks · doi:10.1007/978-3-642-02324-8_23
Research Progress of Cockayne Syndrome
佘, 任. (2022) · Advances in Clinical Medicine · doi:10.12677/acm.2022.124441
Regenbogen, L. (2020) · Definitions · doi:10.1002/9781119013112.ch35 · Cited by 57
Self-citationNeurodegeneração no Envelhecimento: Lições da Síndrome de Cockayne
Nascimento, L. L. S. (2022) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.42.2022.tde-15082022-114300
Repair Mechanisms and Initiation in Carcinogenesis
Rebok, A., & Spratt, T. E. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-95488-4.00089-9
AAV gene therapy for Cockayne syndromePreprint
Batista, A. R., Scholand, A. C., Callahan, W. S., Watson, M. K., Sion, C. M., Mola, T., O’Hara, K., King, O. D., King, R. M., & Sena‐Esteves, M. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.06.06.658349
Nonneoplastic diseases of the testis
Nistal, M., Paniagua, R., & González‐Peramato, P. (2014) · Elsevier eBooks · doi:10.1016/b978-1-4557-4327-8.00012-7
Sheth, J., Nanavati, H., & Murthy, S. I. (2025) · Indian Journal of Ophthalmology - Case Reports · doi:10.4103/ijo.ijo_618_25
Кунгурцева, А. Л., Владимировна, П. А., Tikhonovich, Y. V., Евгеньевна, И. Т., Kovalskaia, V. A., VASILIEV, P. A., & Vitebskaya, A. V. (2026) · Problems of Endocrinology · doi:10.14341/probl13634
Patel, S., Moser, M., Miller, N., Guo, G., McElroy, C. A., & Hester, M. E. (2026) · Developmental Biology · doi:10.1016/j.ydbio.2026.03.019
Rabesandratana, O. (2019) · theses.fr (ABES) · doi:10.70675/90803044zeb76z4ef0z9d5bz38e212c54762
AAV-mediated gene therapy demonstrates phenotypic rescue in a mouse model of Cockayne syndrome
Batista, A. R., Scholand, A. C., Callahan, W. S., Watson, M. K., Sion, C. M., Mola, T., O'Hara, K., Wentworth, S. A., Sena-Esteves, W. S., King, O. D., et al. (2026) · Journal of Clinical Investigation · doi:10.1172/jci196689
Isneina, S. A., Dababseh, B. H., Ghnimat, A. S., AbuHamdiya, L. W., Wohoosh, D., & Dababseh, A. (2026) · Journal of Surgical Case Reports · doi:10.1093/jscr/rjag732
Die Rolle des CSB-Proteins bei der neuronalen Entwicklung und Hypoxie-induzierten Transkription
Schumacher, C. M. (2012) · Univ. Duesseldorf: Duesseldorfer Dokumenten- und Publikationsserver
Metadata
- Authors
- Weidenheim, K. M., Dickson, D. W., & Rapin, I.
- Affiliations
- Albert Einstein College of Medicine (US)
- Corresponding author
- Rapin, Isabelle
- ORCID
- Dickson, Dennis W.
- Venue
- Mechanisms of Ageing and Development
- Publisher
- Elsevier BV
- Published
- 2009-09
- Volume
- 130
- Issue
- 9
- Pages
- 619-636
- ISSN
- 0047-6374 (ISSN-L)
- OpenAlex
- W2041742383
- Cited by
- 156
- References
- 108
- Citations by year
- 2026: 7 · 2025: 5 · 2024: 7 · 2023: 2 · 2022: 9 · 2021: 12 · 2020: 10 · 2019: 5 · 2018: 8 · 2017: 7 · 2016: 14 · 2015: 9 · 2014: 15 · 2013: 12 · 2012: 15
- FWCI
- 4.12
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Mechanisms of Ageing and Development (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- Cockayne syndrome, xeroderma pigmentosum, transcription-coupled repair, premature aging, neurodegeneration, cerebellar degeneration, demyelinating peripheral neuropathy, vasculopathy, oligodendrocyte damage, Schwann cells, development failure, dwarfism, microcephaly, gene silencing
- MeSH terms
- Adolescent, Adult, Child, Cockayne Syndrome, Female, Humans, Male, Myelin Sheath, Nerve Degeneration, Neurons, Physiological Phenomena, Fatal Outcome, Aging, Premature
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
