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

Mech Ageing Dev. 2009 Sep;130(9):619-36. doi: 10.1016/j.mad.2009.07.006. Epub 2009 Jul 30.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Aging, Premature / genetics
  • Aging, Premature / pathology*
  • Child
  • Cockayne Syndrome / genetics
  • Cockayne Syndrome / pathology*
  • Cockayne Syndrome / physiopathology*
  • Fatal Outcome
  • Female
  • Humans
  • Male
  • Myelin Sheath / genetics
  • Myelin Sheath / pathology
  • Nerve Degeneration / genetics
  • Nerve Degeneration / pathology*
  • Neurons / pathology*
  • Physiological Phenomena / genetics