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.
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“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]
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Hallmarks of Brain Aging: Adaptive and Pathological Modification by Metabolic States
Mattson, M. P., & Arumugam, T. V. (2018) · Cell Metabolism · doi:10.1016/j.cmet.2018.05.011 · Cited by 1,242
DNA Damage, DNA Repair, Aging, and NeurodegenerationPreprint
Maynard, S., Fang, E. F., Scheibye‐Knudsen, M., Croteau, D. L., & Bohr, V. A. (2015) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a025130 · Cited by 454
A high-fat diet and NAD(+) activate Sirt1 to rescue premature aging in Cockayne syndrome
Scheibye-Knudsen, M., Mitchell, S. J., Fang, E. F., Iyama, T., Ward, T., Wang, J., Dunn, C. A., Singh, N., Veith, S., Hasan-Olive, M. M., et al. (2014) · Cell Metabolism · doi:10.1016/j.cmet.2014.10.005 · Cited by 352
DNA repair deficiency in neurodegeneration
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Cockayne syndrome: Clinical features, model systems and pathways
Karikkineth, A. C., Scheibye-Knudsen, M., Fivenson, E., Croteau, D. L., & Bohr, V. A. (2017) · Ageing Research Reviews · doi:10.1016/j.arr.2016.08.002 · Cited by 262
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
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