Neuro‐Ophthalmological Findings in Early Fatal Familial Insomnia
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Neurology"
DOI: 10.1002/ana.26008
Abstract: Fatal familial insomnia (FFI) is a rare inherited prion disease characterized by sleep, autonomic, and motor disturbances. Neuro‐ophthalmological abnormalities have been reported at the onset of disease, although not further characterized. We analyzed video recordings… read more here.
Keywords: neuro ophthalmological; ophthalmological findings; findings early; familial insomnia ... See more keywords
Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of neuropathology and experimental neurology"
DOI: 10.1093/jnen/nlac113
Abstract: Fatal familial insomnia (FFI) is a rare prionopathy with unusually high incidence in the Basque Country. We report detailed data on clinical, diagnostic, histopathological, and biochemical characteristics of a recent FFI case series. The Basque… read more here.
Keywords: highest diagnostic; series; case series; fatal familial ... See more keywords
Plasma neurofilament light chain as a biomarker for fatal familial insomnia
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Neurology"
DOI: 10.1111/ene.15302
Abstract: Fatal familial insomnia is a rare hereditary prion disease associated with the D178N‐129M PRNP mutation. Early diagnosis is difficult, because the clinical syndrome may overlap with affective disorders. In addition, most known cerebrospinal fluid biomarkers… read more here.
Keywords: neurofilament light; fatal familial; plasma neurofilament; familial insomnia ... See more keywords
Can insomnia be fatal? An Australian case of fatal familial insomnia
Sign Up to like & getrecommendations! Published in 2022 at "Internal Medicine Journal"
DOI: 10.1111/imj.15737
Abstract: Fatal familial insomnia (FFI) is a rare prion disease with autosomal dominant inheritance. Currently, there is only one published case study of FFI in Australia. FFI is universally fatal, with the disease duration ranging from… read more here.
Keywords: fatal australian; insomnia fatal; insomnia; fatal familial ... See more keywords
Fatal familial insomnia with abnormal signals on routine MRI: a case report and literature review
Sign Up to like & getrecommendations! Published in 2017 at "BMC Neurology"
DOI: 10.1186/s12883-017-0886-2
Abstract: BackgroundFatal familial insomnia (FFI) is a rare autosomal dominant disease caused by the PRNP D178N/129 M mutation. Routine brain CT and MRI usually reveal non-specific features. We report a patient with FFI presenting with diffuse abnormal… read more here.
Keywords: abnormal signals; insomnia abnormal; case; familial insomnia ... See more keywords
Altered energy metabolism in Fatal Familial Insomnia cerebral organoids is associated with astrogliosis and neuronal dysfunction
Sign Up to like & getrecommendations! Published in 2023 at "PLOS Genetics"
DOI: 10.1371/journal.pgen.1010565
Abstract: Fatal familial insomnia (FFI) is a rare neurodegenerative disease caused by a dominantly inherited single amino acid substitution (D178N) within the prion protein (PrP). No in vitro human brain tissue model for this disease has… read more here.
Keywords: prp; energy; fatal familial; cerebral organoids ... See more keywords
Translatome profiling in fatal familial insomnia implicates TOR signaling in somatostatin neurons
Sign Up to like & getrecommendations! Published in 2022 at "Life Science Alliance"
DOI: 10.26508/lsa.202201530
Abstract: Bauer and colleagues report that among the six neuron types studied, somatostatin neurons have an unexpectedly strong and similar response to two distinct genetic prion diseases before disease onset. Selective neuronal vulnerability is common in… read more here.
Keywords: fatal familial; genetic prion; familial insomnia; somatostatin neurons ... See more keywords