Abstract | AIMS: METHODS: RESULTS: We identified a severe loss of parvalbumin+ interneurons and clear evidence of OXPHOS impairment in those that remained. Comparison of regional abundance of interneuron subtypes in control tissues demonstrated enrichment of parvalbumin+ interneurons in the occipital cortex, while other subtypes did not exhibit such topographic specificity. CONCLUSIONS: These findings suggest that the vulnerability of parvalbumin+ interneurons to OXPHOS deficits coupled with the high abundance of parvalbumin+ interneurons in the occipital cortex is a key factor in the aetiology of the occipital-predominant epilepsy that characterises Alpers' syndrome. These findings provide novel insights into Alpers' syndrome neuropathology, with important implications for the development of preclinical models and disease-modifying therapeutics.
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Authors | Laura A Smith, Daniel Erskine, Alasdair Blain, Robert W Taylor, Robert McFarland, Nichola Z Lax |
Journal | Neuropathology and applied neurobiology
(Neuropathol Appl Neurobiol)
Vol. 48
Issue 6
Pg. e12833
(10 2022)
ISSN: 1365-2990 [Electronic] England |
PMID | 35790454
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2022 The Authors. Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society. |
Chemical References |
- DNA, Mitochondrial
- Parvalbumins
|
Topics |
- DNA, Mitochondrial
(genetics)
- Diffuse Cerebral Sclerosis of Schilder
(complications)
- Epilepsy
(pathology)
- Humans
- Interneurons
(pathology)
- Neurodegenerative Diseases
(complications)
- Parvalbumins
(genetics)
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