Cerebral metabolism in fatal familial insomnia: Relation to duration, neuropathology, and distribution of protease-resistent prion protein

@article{Cortelli1997CerebralMI,
  title={Cerebral metabolism in fatal familial insomnia: Relation to duration, neuropathology, and distribution of protease-resistent prion protein},
  author={Pietro Cortelli and Daniela Perani and Piero Parchi and Franco Grassi and Pasquale Montagna and Martina De Martin and Rudy J. Castellani and Paolo Tinuper and Pierluigi Gambetti and Elio Lugaresi and Ferruccio Fazio},
  journal={Neurology},
  year={1997},
  volume={49},
  pages={126 - 133}
}
We used [18F]-2-fluoro-2-deoxy-D-glucose (FDG) and PET to study regional cerebral glucose utilization in seven patients with fatal familial insomnia (FFI), an inherited prion disease with a mutation at codon 178 of the prion protein gene. Four patients were methionine/methionine homozygotes at codon 129 (symptom duration, 8.5 ± 1 months) and three were methionine/valine (MET/VAL129) heterozygotes (symptom duration, 35± 11 months). A severely reduced glucose utilization of the thalamus and a… 

Tables from this paper

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The data indicate that the neurodegenerative process associated with FFI begins in the thalamus between 13 and 21 months before the clinical presentation of the disease.
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TLDR
The ability of innovative techniques to specifically detect minute amount of infectious prion in peripheral tissues (such as the olfactory mucosa) is of fundamental importance for disease monitoring and to evaluate the efficacy of specific treatments to interfere with disease progression.
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TLDR
Two protease resistant fragments of the pathogenic PrP (PrPres), which differ in molecular mass, are associated with FFI and CJD178, respectively, suggesting that the two PrPres have different conformations and hence they produce different disease phenotypes.
Table 1 Demographic Characteristics of Sporadic Fatal Insomnia Patients
TLDR
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