Matches in SemOpenAlex for { <https://semopenalex.org/work/W2027249222> ?p ?o ?g. }
Showing items 1 to 67 of
67
with 100 items per page.
- W2027249222 endingPage "e145" @default.
- W2027249222 startingPage "e144" @default.
- W2027249222 abstract "The FFI is a rare prion disease, originated by the mutation D178N in the PRNP gene. It has an autosomal dominant inheritance pattern. Patients characteristically develop progressive insomnia with loss of the normal circadian sleep-activity pattern, inattention, impaired concentration and memory, confusion, hallucinations, motor disturbances (hyperreflexia, dysarthria, myoclonus, ataxia, spasticity), signs of autonomic hyperactivity (increased sweating, tearing, salivation, mild nocturnal hyperthermia, tachycardia, and hypertension). We expose three cases of patients who died with FFI in our hospital. We reviewed the medical records of three patients with molecular diagnostic of FFI who died in our hospital, comparing the clinical aspect, polysomnographic patterns and pathologic findings. Clinical characteristics were very similar; patients developed insomnia as a prominent and early complaint, associated with excessive daytime sleepiness, ataxia, diplopia, progressive dysphagia, myoclonus, autonomic hyperactivity, confusion and disorientation. Sleep studies showed significant reduction in total sleep time, disorganization of the structure of sleep, decreased sleep efficiency, reduced slow wave sleep, decrease in the number of spindles and K complexes and presence of irregular, choreiform or stereotypic movements. One patient did not reach REM sleep and showed a slow wave sleep ratio of 72.5%. The pathologic alterations in the patients showed severe atrophy with significant neuronal loss in dorsomedial, and pulvinar thalamic nuclei, reactive astrocytosis, gliosis and vacuolation of the neuropil, more intensely in the mid brain, cerebellum (cortex, vermis and dentate nucleus), striatum and hippocampus. The patients with FFI may exhibit a variety of symptoms and signs. The patients described shared many of the clinical and pathological findings. One patient presented a polysomnographic pattern with a ratio of slow wave sleep 72.5%, rare in the FFI. All the people that made possible this study." @default.
- W2027249222 created "2016-06-24" @default.
- W2027249222 creator A5012456228 @default.
- W2027249222 creator A5028753901 @default.
- W2027249222 creator A5036770255 @default.
- W2027249222 creator A5045482119 @default.
- W2027249222 creator A5055380972 @default.
- W2027249222 creator A5091383325 @default.
- W2027249222 date "2013-12-01" @default.
- W2027249222 modified "2023-09-23" @default.
- W2027249222 title "Fatal familial insomnia (FFI) in Basque country. Clinical manifestations, polysomnographic patterns and pathologic findings in three cases" @default.
- W2027249222 doi "https://doi.org/10.1016/j.sleep.2013.11.328" @default.
- W2027249222 hasPublicationYear "2013" @default.
- W2027249222 type Work @default.
- W2027249222 sameAs 2027249222 @default.
- W2027249222 citedByCount "0" @default.
- W2027249222 crossrefType "journal-article" @default.
- W2027249222 hasAuthorship W2027249222A5012456228 @default.
- W2027249222 hasAuthorship W2027249222A5028753901 @default.
- W2027249222 hasAuthorship W2027249222A5036770255 @default.
- W2027249222 hasAuthorship W2027249222A5045482119 @default.
- W2027249222 hasAuthorship W2027249222A5055380972 @default.
- W2027249222 hasAuthorship W2027249222A5091383325 @default.
- W2027249222 hasConcept C126322002 @default.
- W2027249222 hasConcept C142724271 @default.
- W2027249222 hasConcept C15744967 @default.
- W2027249222 hasConcept C169760540 @default.
- W2027249222 hasConcept C2777830160 @default.
- W2027249222 hasConcept C2779134260 @default.
- W2027249222 hasConcept C2779455247 @default.
- W2027249222 hasConcept C2779546488 @default.
- W2027249222 hasConcept C2779652256 @default.
- W2027249222 hasConcept C2780906641 @default.
- W2027249222 hasConcept C3019804061 @default.
- W2027249222 hasConcept C71924100 @default.
- W2027249222 hasConceptScore W2027249222C126322002 @default.
- W2027249222 hasConceptScore W2027249222C142724271 @default.
- W2027249222 hasConceptScore W2027249222C15744967 @default.
- W2027249222 hasConceptScore W2027249222C169760540 @default.
- W2027249222 hasConceptScore W2027249222C2777830160 @default.
- W2027249222 hasConceptScore W2027249222C2779134260 @default.
- W2027249222 hasConceptScore W2027249222C2779455247 @default.
- W2027249222 hasConceptScore W2027249222C2779546488 @default.
- W2027249222 hasConceptScore W2027249222C2779652256 @default.
- W2027249222 hasConceptScore W2027249222C2780906641 @default.
- W2027249222 hasConceptScore W2027249222C3019804061 @default.
- W2027249222 hasConceptScore W2027249222C71924100 @default.
- W2027249222 hasLocation W20272492221 @default.
- W2027249222 hasOpenAccess W2027249222 @default.
- W2027249222 hasPrimaryLocation W20272492221 @default.
- W2027249222 hasRelatedWork W145280561 @default.
- W2027249222 hasRelatedWork W1576569642 @default.
- W2027249222 hasRelatedWork W1973062308 @default.
- W2027249222 hasRelatedWork W2027249222 @default.
- W2027249222 hasRelatedWork W2038070856 @default.
- W2027249222 hasRelatedWork W2049289081 @default.
- W2027249222 hasRelatedWork W2138712736 @default.
- W2027249222 hasRelatedWork W2748952813 @default.
- W2027249222 hasRelatedWork W2899084033 @default.
- W2027249222 hasRelatedWork W3199706032 @default.
- W2027249222 hasVolume "14" @default.
- W2027249222 isParatext "false" @default.
- W2027249222 isRetracted "false" @default.
- W2027249222 magId "2027249222" @default.
- W2027249222 workType "article" @default.