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={P. Cortelli and D. Perani and Piero Parchi and F. Grassi and P. Montagna and M. De Martin and R. Castellani and P. Tinuper and P. Gambetti and E. Lugaresi and F. 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… Expand
80 Citations
Clinical Features of Fatal Familial Insomnia: Phenotypic Variability in Relation to a Polymorphism at Codon 129 of the Prion Protein Gene
- Biology, Medicine
- Brain pathology
- 1998
- 102
Fatal familial insomnia: clinical features and molecular genetics
- Psychology, Medicine
- Journal of sleep research
- 1999
- 52
Identification of new molecular alterations in fatal familial insomnia.
- Biology, Medicine
- Human molecular genetics
- 2016
- 15
- PDF
Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies.
- Medicine
- Brain : a journal of neurology
- 2006
- 78
- PDF
References
SHOWING 1-10 OF 53 REFERENCES
Regional distribution of protease‐resistant prion protein in fatal familial insomnia
- Biology, Medicine
- Annals of neurology
- 1995
- 160
Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene.
- Medicine
- The New England journal of medicine
- 1992
- 540
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism.
- Biology, Medicine
- Proceedings of the National Academy of Sciences of the United States of America
- 1994
- 282
- PDF
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
- Biology, Medicine
- Science
- 1992
- 638
Cerebral Blood Flow and Metabolism in Normal Human Aging, Pathological Aging, and Senile Dementia:
- Medicine
- 1985
- 113
Altered circadian activity rhythms and sleep in mice devoid of prion protein
- Biology, Medicine
- Nature
- 1996
- 638