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… 
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Clinical Features of Fatal Familial Insomnia: Phenotypic Variability in Relation to a Polymorphism at Codon 129 of the Prion Protein Gene
TLDR
The data suggest that the phenotype expression of Fatal Familial Insomnia is related, at least partly, to the polymorphism at codon 129 of the prion protein‐gene.
Fatal familial insomnia: clinical features and molecular genetics
TLDR
Loss of sleep, sympathetic hyperactivity, and flattening of vegetative and hormonal circadian oscillations characterize FFI and result from a homeostatic imbalance caused by the interruption of the thalamocortical limbic circuits, the phylogenetically most advanced structures involved in the control of the sleep–wake cycle and the body's homeostasis.
Fatal Familial Insomnia: A Disease Model Emphasizing the Role of the Thalamus in the Regulation of the Sleep-Wake Cycle and Other Circadian Rhythms
TLDR
FFI is characterized by a unique set of clinical symptoms and pathological findings, which give rise to peculiar clinico-pathological correlations and interesting physiopathological conclusions concerning the role of the thalamus, especially its anterior and mediodorsal nuclei, in the regulation of circadian activities such as the sleep-wake cycle and the attending hormonal and vegetative functions.
Familial and sporadic fatal insomnia
Identification of new molecular alterations in fatal familial insomnia.
TLDR
The present findings unveil particular neuropathological and neuroinflammatory profiles in FFI and novel characteristics of natural prion protein in F FI, altered PrPres and Scrapie PrP (abnormal and pathogenic PrP) patterns and region-dependent putative capacity of PrP seeding.
Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies.
TLDR
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.
Clinical features, pathophysiology and management of fatal familial insomnia
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.
Molecular Pathology of Fatal Familial Insomnia
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
SFI shares clinical and pathologic similarities with the genetic prion disorder fatal familial insomnia; the MM2-thalamic phenotype has therefore been called sporadic fatal insomnia (SFI), and may also present like other neurodegenerative diseases, and common diagnostic findings that are seen in other forms of sporadic CJD may be absent.
Neuronal Apoptosis in Fatal Familial Insomnia
TLDR
Apoptotic neurons were identified by in situ end labelling in all the FFI cases and in none of the controls and their presence and abundance seemed to correlate closely with the neuronal loss.
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