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https://ahro.austin.org.au/austinjspui/handle/1/29923| Title: | Can insomnia be fatal? An Australian case of fatal familial insomnia. | Austin Authors: | Habteslassie, Daniel;McMahon, Marcus A ;Wimaleswaran, Hari | Affiliation: | Respiratory and Sleep Medicine Institute for Breathing and Sleep Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.. |
Issue Date: | Apr-2022 | Publication information: | Internal Medicine Journal 2022; 52(4): 667-670 | 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. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/29923 | DOI: | 10.1111/imj.15737 | ORCID: | 0000-0003-3809-8691 0000-0003-3727-5000 |
Journal: | Internal Medicine Journal | PubMed URL: | 35419959 | PubMed URL: | https://pubmed.ncbi.nlm.nih.gov/35419959/ | Type: | Journal Article | Subjects: | fatal familial insomnia prion disease sleep assessment |
| Appears in Collections: | Journal articles |
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