Brain Advance Access published online on January 6, 2006
Brain, doi:10.1093/brain/awl003
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1 Department of Neurological Sciences, University of Bologna, Italy
* To whom correspondence should be addressed. Knowing how and when the degenerative process starts is important in neurodegenerative diseases. We have addressed this issue in fatal familial insomnia (FFI) measuring the cerebral metabolic rate of glucose (CMRglc) with 2-[18F]fluoro-2-deoxy-D-glucose PET in parallel with detailed clinical, neuropsychological examinations and polysomnography with EEG spectral analyses. Nine asymptomatic carriers of the D178N mutation, 10 non-carriers belonging to the same family, and 19 age-matched controls were studied over several years. The CMRglc as well as clinical and electrophysiological examinations were normal in all cases at the beginning of the study. Four of the mutation carriers developed typical FFI during the study but CMRglc and the clinical and electrophysiological examinations remained normal 63, 56, 32 and 21 months, respectively before disease onset. The carrier whose tests were normal 32 months before disease onset was re-examined 13 months before the onset. At that time, selective hypometabolism was detected in the thalamus while spectral-EEG analysis disclosed an impaired thalamic sleep spindle formation. Following clinical disease onset, CRMglc was reduced in the thalamus in all 3 patients examined. Our 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.
Received September 7, 2005
Revised October 11, 2005
Accepted December 7, 2005
Article
Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies
Pietro Cortelli 1 *,
Daniela Perani 2,
Pasquale Montagna 1,
Roberto Gallassi 1,
Paolo Tinuper 1,
Provini Federica 1,
Patrizia Avoni 1,
Franco Ferrillo 3,
Davide Anchisi 2,
Rosa Maria Moresco 4,
Ferruccio Fazio 4,
Piero Parchi 1,
Agostino Baruzzi 1,
Elio Lugaresi 1,
and
Pierluigi Gambetti 5
2 Department of Neuroscience, C.N.R.-I.B.F.M., Vita-Salute San Raffaele University, Italy
3 DISMR, Department of Motor Sciences, Center for Sleep Medicine, University of Genova, Italy
4 C.N.R.-I.B.F.M., University of Milan-Bicocca, Scientific Institute H. S. Raffaele, Milan, Italy
5 Institute of Pathology, Case Western Reserve University, Cleveland, OH, USA
Pietro Cortelli, E-mail: pietro.cortelli{at}unibo.it
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