Can insomnia be fatal? An Australian case of fatal familial insomnia
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 8 to 72 months. Clinically, it manifests with disordered sleep–wake cycle, dysautonomia, motor disturbances and neuropsychiatric disorders. We describe a case of FFI detailing the investigative process, including the importance of sleep assessment and polysomnography in obtaining a diagnosis..
Medienart: |
E-Artikel |
---|
Erscheinungsjahr: |
2022 |
---|---|
Erschienen: |
2022 |
Enthalten in: |
Zur Gesamtaufnahme - volume:52 |
---|---|
Enthalten in: |
Internal Medicine Journal - 52(2022), 4, Seite 667-670 |
Beteiligte Personen: |
Habteslassie, Daniel [VerfasserIn] |
---|
BKL: |
---|
Anmerkungen: |
© 2022 Royal Australasian College of Physicians |
---|
Umfang: |
4 |
---|
doi: |
10.1111/imj.15737 |
---|
funding: |
|
---|---|
Förderinstitution / Projekttitel: |
|
PPN (Katalog-ID): |
WLY007468830 |
---|
LEADER | 01000caa a22002652 4500 | ||
---|---|---|---|
001 | WLY007468830 | ||
003 | DE-627 | ||
005 | 20230307171043.0 | ||
007 | cr uuu---uuuuu | ||
008 | 230216s2022 xx |||||o 00| ||und c | ||
024 | 7 | |a 10.1111/imj.15737 |2 doi | |
028 | 5 | 2 | |a IMJ_IMJ15737.xml |
035 | |a (DE-627)WLY007468830 | ||
035 | |a (WILEY)IMJ15737 | ||
040 | |a DE-627 |b ger |c DE-627 |e rda | ||
082 | 0 | 4 | |a 610 |q ASE |
084 | |a 44.61 |2 bkl | ||
100 | 1 | |a Habteslassie, Daniel |e verfasserin |4 aut | |
245 | 1 | 0 | |a Can insomnia be fatal? An Australian case of fatal familial insomnia |
264 | 1 | |c 2022 | |
300 | |a 4 | ||
336 | |a Text |b txt |2 rdacontent | ||
337 | |a Computermedien |b c |2 rdamedia | ||
338 | |a Online-Ressource |b cr |2 rdacarrier | ||
500 | |a © 2022 Royal Australasian College of Physicians | ||
520 | |a 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 8 to 72 months. Clinically, it manifests with disordered sleep–wake cycle, dysautonomia, motor disturbances and neuropsychiatric disorders. We describe a case of FFI detailing the investigative process, including the importance of sleep assessment and polysomnography in obtaining a diagnosis. | ||
700 | 1 | |a McMahon, Marcus |4 aut | |
700 | 1 | |a Wimaleswaran, Hari |4 aut | |
773 | 0 | 8 | |i Enthalten in |t Internal Medicine Journal |g 52(2022), 4, Seite 667-670 |w (DE-627)WLY007456433 |x 14455994 |7 nnns |
773 | 1 | 8 | |g volume:52 |g year:2022 |g number:4 |g pages:667-670 |g extent:4 |
912 | |a GBV_USEFLAG_A | ||
912 | |a GBV_WLY | ||
936 | b | k | |a 44.61 |q ASE |
951 | |a AR | ||
952 | |d 52 |j 2022 |e 4 |h 667-670 |g 4 |