Habteslassie, Daniel

McMahon, Marcus A

Wimaleswaran, Hari

2022-04

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.

Internal Medicine Journal 2022; 52(4): 667-670

Internal Medicine Journal

0000-0003-3809-8691

0000-0003-3727-5000

#PLACEHOLDER_PARENT_METADATA_VALUE#

https://ahro.austin.org.au/austinjspui/handle/1/29923

fatal familial insomnia

prion disease

sleep assessment

Can insomnia be fatal? An Australian case of fatal familial insomnia.

Journal Article