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Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration

Weidenheim, Karen M., Dickson, Dennis W., Rapin, Isabelle·2009·Mechanisms of Ageing and Development

DOI 10.1016/j.mad.2009.07.006

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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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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)
DOI: 10.1016/j.mad.2009.07.006
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
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
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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Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration

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