title: [18F]FDG PET in fatal familial insomnia: the functional effects of thalamic lesions.
abstract: We used [18F]2-fluoro-2-deoxy-D-glucose ([18F]FDG) and positron emission tomography (PET) to study regional cerebral glucose utilization (rCMRglc) in four patients with fatal familial insomnia (FFI), a prion disease with a mutation at codon 178 of the prion protein gene. Two patients, presenting only with insomnia and dysautonomia, had a prominent and, in one case, selective thalamic hypometabolism. The remaining two cases presented a more complex clinical picture with multiple neurologic deficits, with both thalamic and widespread brain hypometabolism involving the majority of cortical structures, basal ganglia, and the cerebellum. This widespread pattern was present in the early stage of the disease and showed significant worsening as the disease progressed in one patient examined twice. The thalamic hypometabolism, consistently found with PET in FFI patients, is in agreement with the neuropathologic findings and is a hallmark of the disease.
authors.affiliation: Institute of Neurosciences and Bioimages, CNR, Milan, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Perani
authors.forename: P
authors.initials: P
authors.lastname: Cortelli
authors.forename: G
authors.initials: G
authors.lastname: Lucignani
authors.forename: P
authors.initials: P
authors.lastname: Montagna
authors.forename: P
authors.initials: P
authors.lastname: Tinuper
authors.forename: R
authors.initials: R
authors.lastname: Gallassi
authors.forename: P
authors.initials: P
authors.lastname: Gambetti
authors.forename: G L
authors.initials: GL
authors.lastname: Lenzi
authors.forename: E
authors.initials: E
authors.lastname: Lugaresi
authors.forename: F
authors.initials: F
authors.lastname: Fazio
mesh_terms: D000328:Adult; D001921:Brain / Q000378:metabolism; D003847:Deoxyglucose / Q000031:analogs & derivatives*; D005260:Female; D005462:Fluorine Radioisotopes; D019788:Fluorodeoxyglucose F18; D005947:Glucose / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D007319:Sleep Initiation and Maintenance Disorders / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000378:metabolism; D013788:Thalamus / Q000000981:diagnostic imaging* / Q000378:metabolism; D014055:Tomography, Emission-Computed
chemical_list: D005462:Fluorine Radioisotopes; D019788:Fluorodeoxyglucose F18; D003847:Deoxyglucose; D005947:Glucose