Fatal familial insomniaFatal insomnia is an extremely rare neurodegenerative prion disease that results in trouble sleeping as its hallmark symptom.[1][2] The majority of cases are familial (fatal familial insomnia [FFI]), stemming from a mutation in the PRNP gene, with the remainder of cases occurring sporadically (sporadic fatal insomnia [sFI]). The problems with sleeping typically start out gradually and worsen over time.[4] Eventually, the patient will succumb to total insomnia (agrypnia excitata), most often leading to other symptoms such as speech problems, coordination problems, and dementia.[5] It results in death within a few months to a few years and has no known cure.[2]
|
The search result for the NDD Category "Fatal familial insomnia"
A total of 20 results found based on your keywords| RF_ID | Disease Name | Species | RF_Name | Association | Phase | Condition | Year | PMID |
|---|---|---|---|---|---|---|---|---|
| 4008 | Fatal familial insomnia (FFI) | Human | SRSF11 | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 4007 | Fatal familial insomnia (FFI) | Human | SRSF11 | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 4009 | Fatal familial insomnia (FFI) | Human | SRSF11 | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 4000 | Fatal familial insomnia (FFI) | Human | NR1H9P | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 3999 | Fatal familial insomnia (FFI) | Human | NR1H8P | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 3998 | Fatal familial insomnia (FFI) | Human | NR1H7P | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 3997 | Fatal familial insomnia (FFI) | Human | NR1H6P | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 3996 | Fatal familial insomnia (FFI) | Human | NR1H5P | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 4001 | Fatal familial insomnia (FFI) | Human | NR1H10P | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 4014 | Fatal familial insomnia (FFI) | Human | MSANTD3 | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 4011 | Fatal familial insomnia (FFI) | Human | MSANTD3 | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 4013 | Fatal familial insomnia (FFI) | Human | MSANTD3 | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 4010 | Fatal familial insomnia (FFI) | Human | MSANTD3 | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 4012 | Fatal familial insomnia (FFI) | Human | MSANTD3 | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 4003 | Fatal familial insomnia (FFI) | Human | GNA13P1 | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 4002 | Fatal familial insomnia (FFI) | Human | GNA13P1 | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 4006 | Fatal familial insomnia (FFI) | Human | EXOC1L | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 4005 | Fatal familial insomnia (FFI) | Human | EXOC1L | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 4004 | Fatal familial insomnia (FFI) | Human | EXOC1L | RF | Diagnosis | These genetic variants are absent in FFI patients with early disease onset (19-40 years) | 2023 | 37626863 |
| 2884 | Fatal familial insomnia (FFI) | Human | PRNP | RF | Diagnosis | 2021 | 34667102 |
|
All rights reserved: Institutes for Systems Genetics, West China Hospital
|