18F-FDG PET Brain in a Patient With Fatal Familial Insomnia

Tham, Wei Ying; Thian, Yee Liang; Ratnagopal, Pavanni; Xie, Wei

doi:10.1097/rlu.0000000000002152

Cited by 7 publications

(5 citation statements)

References 9 publications

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“…The thalamus changes detected in our study were also found in previous research. Previous FDG-PET studies reported hypometabolism in the bilateral thalamus, cingulum, cortices, and basal ganglia,( Khan and Bollu, 2020 , Provini, 2013 , Zhang et al, 2010 ) which is in line with our results ( Cortelli et al, 1997 , Provini, 2013 , Rupprecht et al, 2013 , Tham et al, 2018 ). As for thalamic subnuclei, current neuroimaging analysis remains scarce, whereas postmortem analyses have indicated medial dorsal and anterior ventral nuclei involvement, followed by involvement of the pulvinar and inferior olives,( Haïk et al, 2008 , Khan and Bollu, 2020 , Llorens et al, 2017 ) which supports our ROI analysis results.…”

Section: Discussionsupporting

confidence: 93%

Specific structuro-metabolic pattern of thalamic subnuclei in fatal familial insomnia: A PET/MRI imaging study

Xie

Chen

Chu

et al. 2022

NeuroImage: Clinical

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Section: Discussionsupporting

confidence: 93%

Specific structuro-metabolic pattern of thalamic subnuclei in fatal familial insomnia: A PET/MRI imaging study

Xie

Chen

Chu

et al. 2022

NeuroImage: Clinical

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“…As a result, the reduction of the sleep spindles and K complexes indicates a decline in thalamic function [18]. Furthermore, 18-fluoro-deoxy-glucose-PET/CT detected prominent hypometabolism in bilateral thalami, which were consistently reported in previous publications [4,19]. Early pathological changes of FFI may be predominantly limited to the thalamus and adjacent areas.…”

Section: Discussionsupporting

confidence: 56%

Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia

Yao

et al. 2019

Prion

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Background : Fatal familial insomnia (FFI) is a rare autosomal-dominant inherited prion disease characterized clinically by severe sleep disorder, motor signs, dysautonomia and abnormal behaviour. FFI is caused by a missense mutation at codon 178 of the prion protein gene (PRNP). Our study is aimed to explore typical clinical and genetic features of two Chinese pedigrees with FFI and review the related literatures. Methods : Two FFI cases with family histories were recruited in our study. The main clinical features, genetic features and possible pathophysiologic mechanisms of these two FFI cases were analysed. Results : The foremost symptoms seemed to be sleep disturbances and psychosis. Progressive sympathetic symptoms, movement disturbances and memory loss were frequently observed as well. Electroencephalography (EEG) showed a minor slowing without periodic triphasic waves. Polysomnography (PSG) showed reduction in total sleep time and disturbance of sleep-related respiratory. Brain magnetic resonance imaging (MRI) did not reveal obvious abnormality. Genetic analysis disclosed the prion protein gene mutation at codon 178 (D178N), with methionine (Met) homozygosity at the polymorphic position 129 (Met129Met). Conclusions : The major clinical features of Chinese FFI are sleep dysfunction, psychiatric symptoms and sympathetic symptoms. Our patients have similar clinical characteristics as that of the typical FFI cases.

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“…Research, Society and Development, v. 10, n. 14, e168101421719, 2021 (CC BY 4.0) (Lee et al, 2014;Lima et al, 2020;Tham et al, 2018;Pedroso et al, 2013)…”

Section: Resultsmentioning

confidence: 99%

Índice de prevalência e principais manifestações clínicas iniciais da insônia familiar fatal

Barbosa

Santos

Sousa

et al. 2021

RSD

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Introdução: A insônia familiar fatal (IFF) é uma doença priônica autossômica dominante e neurodegenerativa causada por uma mutação no gene da proteína príon celular (PrPC). O objeivo dessa revisão é identificar as manifestações clínicas iniciais da IFF e sua distribuição geográfica durante a última década. Metodologia: Trata-se de uma revisão sistemática da literatura incluindo relatos de casos sobre a IFF, publicados no período de 2011 a 2021, indexados na base de dados do PubMed/MEDLINE. Resultados: Foram detectados 49 indivíduos portadores de IFF. Os sintomas iniciais mais comuns foram insônia progressiva (55%), déficits cognitivos (25%), redução ponderal (25%), alterações da marcha (25%) e desorientação (25%). Alguns casos apresentaram sintomas sugestivos de outras hipóteses diagnósticas como tremores (15%) e alterações do humor (10%). Os EUA apresentaram frequência absoluta de 17 pessoas distribuídas em três famílias. A China teve um total de dez afetados por IFF distribuídos em cinco famílias. Brasil, Alemanha e Coreia do Sul apresentaram duas famílias afetadas cada. Porém, quanto ao total de portadores de IFF, Brasil apresentou sete e Coreia do Sul, França e Espanha, três portadores cada. Conclusão: a China e o EUA apresentam as maiores frequências absolutas de IFF, contudo, alguns países europeus, como Espanha e França, possuem uma frequência relativa maior. Apesar de a insônia ser o sintoma inicial mais comum, existem casos nos quais a IFF pode se manifestar inicialmente com sintomas que mimetizam outras patologias neurodegenerativas ou patologias de ordem psicológica, dificultando o diagnóstico.

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18F-FDG PET Brain in a Patient With Fatal Familial Insomnia

Cited by 7 publications

References 9 publications

Specific structuro-metabolic pattern of thalamic subnuclei in fatal familial insomnia: A PET/MRI imaging study

Specific structuro-metabolic pattern of thalamic subnuclei in fatal familial insomnia: A PET/MRI imaging study

Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia

Índice de prevalência e principais manifestações clínicas iniciais da insônia familiar fatal

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