18F-FDG PET Brain in a Patient With Fatal Familial Insomnia
Functional brain imaging performed with F-FDG PET was fused with her MRI scans. This demonstrated profound hypometabolism in bilateral thalami and the posterior cingulate cortex, which is pathognomonic for familial fatal insomnia.
Specific structuro-metabolic pattern of thalamic subnuclei in fatal ...
All five patients with FFI and 10 healthy controls underwent PET scans from 2017 to 2019. The 18 F-FDG PET images were acquired over 15 min, following a bolus intravenous injection of 18 F-FDG (approximately 308 MBq) with an uptake time of 30 min. Images were reconstructed using an ordered subset expectation maximization algorithm with 16 ...
Midbrain Hypometabolism in Fatal Familial Insomnia: A Case …
Oct 30, 2014 · Herein we describe a patient with FFI. In order to study brain glucose hypometabolism in the patient, we used statistical parametric mapping (SPM) analysis of [ 18 F]-fluorodeoxyglucose positron emission tomography (FDG-PET). The patient was a …
An in vivo 11C‐PK PET study of microglia activation in Fatal …
Dec 17, 2024 · Postmortem studies reported significant microglia activation in association with neuronal apoptosis in Fatal Familial Insomnia (FFI), indicating a specific glial response, but negative evidence also exists.
Fatal Familial Insomnia - StatPearls - NCBI Bookshelf
Feb 25, 2024 · Fatal familial insomnia (FFI) is a very rare and fatal inherited neurodegenerative prion disease. The mode of inheritance of this disease is autosomal dominant and involves a mutation of the prion protein (PRNP) gene, leading to atrophy in the thalamic nucleus.
Expert Consensus on Clinical Diagnostic Criteria for Fatal Familial ...
Based on the above clinical classification, family history, and laboratory tests, we propose the following clinical diagnostic criteria algorithm for the diagnosis of FFI: (1) possible FFI, (2) probable FFI, and (3) definitive FFI.
Familial and sporadic fatal insomnia - The Lancet Neurology
Familial fatal insomnia (FFI)—a hereditary prion disease caused by a mutation at codon 178 of the prion-protein (PrP) gene (PRNP) that leads to a D178N substitution in the protein—and its sporadic form, sporadic fatal insomnia (SFI), have similar disease phenotypes.
Clinical Features and Sleep Analysis of Chinese Patients with Fatal ...
Jun 15, 2017 · This study aimed to examine clinical features, sleep, abnormal sleep-wake transition and non-sleep disturbances as well as lab tests in Chinese fatal familial insomnia (FFI) subjects. Patients with confirmed clinical and laboratory diagnosis of FFI have been retrospectively reviewed.
Fatal familial insomnia: Clinical features and early identification
May 14, 2008 · The diagnostic importance of polysomnography in FFI noted in our study has been emphasized by other authors. 2, 6, 12, 14 [18 F]FDG-PET studies were reported to support FFI diagnosis. 9 Selective thalamic changes were seen on PET in only two of our patients, whereas widespread cortical hypometabolism without clear preference for a particular ...
Fatal Familial Insomnia - National Organization for Rare Disorders
Jul 17, 2023 · Positron emission tomography or PET scan is an advanced imaging technique that can be useful in diagnosing FFI or SFI. During a PET scan, three-dimensional images are produced that reflect the brain’s metabolic activity and can show reduced activity within the thalamus (thalamic hypometabolism), as a characteristic feature.