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Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies (Articolo in rivista)

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Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies (Articolo in rivista) (literal)

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Cortelli P. 3, Perani D. 1,2, Montagna P. 3, Gallassi R. 3, Tinuper P. 3, Federica P. 3, Avoni P. 3, Ferrillo F. 4, Anchisi D. 1, Moresco R.M, 2. Fazio F. 2, Parchi P. 3, Baruzzi A. 3, Lugaresi E. 3, Gambetti P. 5 (2006)
Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies
in Brain (Print); Elsevier, Amsterdam (Paesi Bassi)
(literal)

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Cortelli P. 3, Perani D. 1,2, Montagna P. 3, Gallassi R. 3, Tinuper P. 3, Federica P. 3, Avoni P. 3, Ferrillo F. 4, Anchisi D. 1, Moresco R.M, 2. Fazio F. 2, Parchi P. 3, Baruzzi A. 3, Lugaresi E. 3, Gambetti P. 5 (literal)

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Si tratta di uno studio di ricerca ottenuto grazie alla collaborazione con lUniversità Vita-Salute San Raffaele, con lUniversità Milano-Bicocca, con lUniversità di Bologna, con lUniversità di Genova e con lUniversità di Cleveland. Limpact factor della rivista che ha pubblicato larticolo è pari a 7.535. (literal)

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Rivista

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Lo studio descritto in questo articolo valuta il metabolismo glucidico cerebrale con 18-F FDG e PET in pazienti affetti da una patologia neurodegenerativa molto rara e molto grave: l insonnia familiare fatale (fatal familial insomnia: FFI). Sono stati valutati 9 carrier asintomatici della mutazione genetica caratteristica e 10 familiari non mutati delle stesse famiglie, confrontati con un gruppo di 19 soggetti sani. Lo studio seriale dei carriers prima della manifestazione clinica ha consentito di evidenziare tra 32 e 13 mesi prima dellesordio clinico un ipometabolismo selettivo a livello del talamo. Il risultato ottenuto consente quindi di aggiungere importanti informazioni sul processo patogenetico alla base di questa patologia neurodegenerativa. (literal)

Note

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1. Department of Neuroscience, Vita-Salute San Raffaele University, Italy 2. CNR-IBFM, University of Milan-Bicocca, Scientific Institute H. S. Raffaele, Milan, Italy 3. Department of Neurological Sciences, University of Bologna, Italy 4. DISMR, Department of Motor Sciences, Center for Sleep Medicine, University of Genova, Italy 5. Institute of Pathology, Case Western Reserve University, Cleveland (OH) USA (literal)

Titolo

Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies (literal)

Abstract

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. (literal)

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