Neuronal apoptosis in fatal familial insomnia

Anne Dorandeu, Laure Wingertsmann, Fabrice Chrétien, Marie Bernadette Delisle, Claude Vital, Piero Parchi, Pasquale Montagna, Elio Lugaresi, James W. Ironside, Herbert Budka, Pierluigi Gambetti, Françoise Gray

Research output: Contribution to journalArticlepeer-review


The possibility that neuronal loss in prion diseases occurs through an apoptotic process has been postulated and is consistent with the lack of inflammation in these disorders. In order to test this hypothesis in FFI, in which neuronal loss is the predominant neuropathological feature, we examined samples of thalamus, basal ganglia, cerebral cortex, cerebellum and medulla from 10 subjects with FFI. All the patients had the characteristic 178 N mutation of the PrP gene. Eight subjects were homozygous methionine/methionine at codon 129 and 2 were heterozygous methionine/valine. Apoptotic neurons were identified by in situ end labelling in all the FFI cases and in none of the controls. They were mostly found in damaged regions and their presence and abundance seemed to correlate closely with the neuronal loss. They were particularly abundant in the thalamus and medullary olives. In heterozygous cases who had a longer disease duration and more widespread cerebral changes, apoptotic neurons were also found in the neocortex and striatum. The abundance of apoptotic neurons also correlated well with microglial activation as demonstrated by the expression of major histocompatibility complex class II antigens. PrP(res) immunostaining was almost invariably negative, consistent with previous data showing the lack of obvious correlation between neuronal loss and PrP(res) deposits in prion diseases.

Original languageEnglish
Pages (from-to)531-537
Number of pages7
JournalBrain Pathology
Issue number3
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Neuroscience(all)
  • Pathology and Forensic Medicine


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