FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2340265514> ?p ?o ?g. }

• W2340265514 abstract "Objective: Presentation of a case of sporadic fatal insomnia Background: The antemortem diagnosis of sporadic fatal insomnia, a rare form of sporadic prion disease is difficult. Methods: We describe the presentation, work-up, and diagnosis at autopsy of a case of sporadic fatal insomnia. Results: A 28 year old, otherwise healthy male, presented with diplopia and personality changes, followed 8 months later by cerebellar ataxia. Over the next two years he developed sleep disturbance, chorea, myoclonus, psychosis and cognitive impairment. His work up included 2 spinal taps negative for the presence of 14-3-3, brain MRIs, a whole body PET scan, EEG studies, as well as a brain biopsy 24 months following onset of symptoms. The brain biopsy was evaluated at the National Prion Disease Pathology Surveillance Center. These studies did not yield a diagnosis. The brain PET scan showed bilateral hypometabolism in the thalami. He died 34 months following symptom onset. At autopsy, spongiform changes were found affecting the neocortex, and entorhinal cortex. There was severe neuronal loss and gliosis involving the inferior olive and thalami. Western Blot analysis of fresh frozen brain revealed the presence of abnormal protease resistant prion protein. Targeted sequencing of the PRNP gene, as well as whole exome sequencing revealed no pathogenic mutations. The patient was homozygous for methionine at position 129 of the PRNP gene. Conclusions: A negative brain biopsy, and CSF studies that are negative for prion disease, does not rule out a diagnosis of sporadic fatal insomnia, a form of prion disease. Brain PET studies showing decreased metabolism in bilateral thalami, and homozygosity for methionine at position 129 of the PRNP gene are characteristic features of this form of prion disease. In a young patient with rapidly progressive cerebellar ataxia, and cognitive decline, sporadic fatal insominia should be considered in the differential diagnosis. Disclosure: Dr. Lee has nothing to disclose. Dr. Camelo-Piragua has nothing to disclose. Dr. Cali has nothing to disclose. Dr. Cohen has nothing to disclose. Dr. Shakkottai has nothing to disclose." @default.
• W2340265514 created "2016-06-24" @default.
• W2340265514 creator A5021873304 @default.
• W2340265514 creator A5057694040 @default.
• W2340265514 creator A5059426494 @default.
• W2340265514 creator A5077187605 @default.
• W2340265514 creator A5083558247 @default.
• W2340265514 date "2016-04-05" @default.
• W2340265514 modified "2023-09-22" @default.
• W2340265514 title "Difficulties in Making an Antemortem Diagnosis of Sporadic Fatal Insomnia, a Rare Form of Sporadic Prion Disease (P5.389)" @default.
• W2340265514 hasPublicationYear "2016" @default.
• W2340265514 type Work @default.
• W2340265514 sameAs 2340265514 @default.
• W2340265514 citedByCount "0" @default.
• W2340265514 crossrefType "journal-article" @default.
• W2340265514 hasAuthorship W2340265514A5021873304 @default.
• W2340265514 hasAuthorship W2340265514A5057694040 @default.
• W2340265514 hasAuthorship W2340265514A5059426494 @default.
• W2340265514 hasAuthorship W2340265514A5077187605 @default.
• W2340265514 hasAuthorship W2340265514A5083558247 @default.
• W2340265514 hasConcept C118552586 @default.
• W2340265514 hasConcept C142724271 @default.
• W2340265514 hasConcept C2776429142 @default.
• W2340265514 hasConcept C2776538686 @default.
• W2340265514 hasConcept C2778147599 @default.
• W2340265514 hasConcept C2779134260 @default.
• W2340265514 hasConcept C2779455247 @default.
• W2340265514 hasConcept C2779504383 @default.
• W2340265514 hasConcept C2780906641 @default.
• W2340265514 hasConcept C3019804061 @default.
• W2340265514 hasConcept C71924100 @default.
• W2340265514 hasConceptScore W2340265514C118552586 @default.
• W2340265514 hasConceptScore W2340265514C142724271 @default.
• W2340265514 hasConceptScore W2340265514C2776429142 @default.
• W2340265514 hasConceptScore W2340265514C2776538686 @default.
• W2340265514 hasConceptScore W2340265514C2778147599 @default.
• W2340265514 hasConceptScore W2340265514C2779134260 @default.
• W2340265514 hasConceptScore W2340265514C2779455247 @default.
• W2340265514 hasConceptScore W2340265514C2779504383 @default.
• W2340265514 hasConceptScore W2340265514C2780906641 @default.
• W2340265514 hasConceptScore W2340265514C3019804061 @default.
• W2340265514 hasConceptScore W2340265514C71924100 @default.
• W2340265514 hasOpenAccess W2340265514 @default.
• W2340265514 hasRelatedWork W145280561 @default.
• W2340265514 hasRelatedWork W1939436215 @default.
• W2340265514 hasRelatedWork W2077125203 @default.
• W2340265514 hasRelatedWork W2333573009 @default.
• W2340265514 hasRelatedWork W2335250622 @default.
• W2340265514 hasRelatedWork W2620365162 @default.
• W2340265514 hasRelatedWork W2764269933 @default.
• W2340265514 hasRelatedWork W2804753771 @default.
• W2340265514 hasRelatedWork W2884080165 @default.
• W2340265514 hasRelatedWork W2888718072 @default.
• W2340265514 hasRelatedWork W2895780244 @default.
• W2340265514 hasRelatedWork W2947871571 @default.
• W2340265514 hasRelatedWork W3007822725 @default.
• W2340265514 hasRelatedWork W3016051972 @default.
• W2340265514 hasRelatedWork W3128177985 @default.
• W2340265514 hasRelatedWork W3132579833 @default.
• W2340265514 hasRelatedWork W3165334782 @default.
• W2340265514 hasRelatedWork W3191724199 @default.
• W2340265514 hasRelatedWork W3197637926 @default.
• W2340265514 hasRelatedWork W3201969077 @default.
• W2340265514 hasVolume "86" @default.
• W2340265514 isParatext "false" @default.
• W2340265514 isRetracted "false" @default.
• W2340265514 magId "2340265514" @default.
• W2340265514 workType "article" @default.