Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6)

Neurobiol Dis. 2005 Oct;20(1):49-63. doi: 10.1016/j.nbd.2005.01.025.

Abstract

The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are fatal inherited neurodegenerative diseases characterized by gross brain atrophy, blindness, and intracellular accumulation of lysosome-derived storage bodies. A CLN6 form in sheep is studied as a large animal model of the human diseases. This study describes neuropathological changes in brains from presymptomatic affected sheep. Activated astrocytes and focal clusters of activated microglia were present in outer layers of occipital and somatosensory cortical regions as early as 12 days of age, together with activated perivascular macrophages. Astrocytic activation and progressive transformation of microglia to brain macrophages preceded neurodegeneration and spread to different cortical areas, most prominently in regions associated with clinical symptoms. In contrast, storage body accumulation was much more evenly spread across regions. These data support suggestions that neurodegeneration and storage body accumulation may be independent manifestations of CLN6 mutation and indicate that glial cell activation may be an important mediator in pathogenesis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Astrocytes / physiology*
  • Atrophy / pathology
  • Atrophy / physiopathology
  • Biomarkers / metabolism
  • Cell Differentiation / physiology
  • Cell Movement / physiology
  • Cerebral Cortex / pathology
  • Cerebral Cortex / physiopathology*
  • Disease Models, Animal
  • Disease Progression
  • Inclusion Bodies / metabolism
  • Macrophages / physiology
  • Microglia / physiology*
  • Nerve Degeneration / pathology
  • Nerve Degeneration / physiopathology*
  • Nerve Tissue Proteins / metabolism
  • Neuronal Ceroid-Lipofuscinoses / pathology
  • Neuronal Ceroid-Lipofuscinoses / physiopathology*
  • Neuronal Ceroid-Lipofuscinoses / veterinary
  • Sheep

Substances

  • Biomarkers
  • Nerve Tissue Proteins