{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T19:02:29Z","timestamp":1788462149496,"version":"build-2803163510"},"reference-count":7,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,5,20]]},"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:p>A previously well 54-\u2009year-old woman presented with a short history of diplopia, cognitive decline, hallucinations and hypersomnolence. The patient had progressive deterioration in short-term memory, ocular convergence spasm, tremor, myoclonus, gait apraxia, central fever, dream enactment and seizures. Results of investigations were normal including MRI brain, electroencephalogram, cerebrospinal fluid (CSF, including CSF prion protein markers) and brain biopsy. The patient died from pneumonia and pulmonary embolus. Brain postmortem analysis revealed neuropathological changes in keeping with Fatal familial insomnia (FFI); the diagnosis was confirmed on genetic testing. FFI is caused by an autosomal dominant and highly penetrant pathogenic Prion Protein gene <jats:italic>PRNP<\/jats:italic>. Although usually familial, fatal insomnia (FI) also occurs in a rare sporadic form. FI is a rare human prion disease with prominent sleep disturbance, autonomic, motor, cognitive and behavioural involvement. Patient management is with best supportive care and early suspected diagnosis allows for timely palliation.<\/jats:p>","DOI":"10.1136\/bcr-2020-241289","type":"journal-article","created":{"date-parts":[[2021,6,22]],"date-time":"2021-06-22T12:03:17Z","timestamp":1624363397000},"page":"e241289","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Fatal insomnia: the elusive prion disease"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7976-9039","authenticated-orcid":false,"given":"Dharmini","family":"Patel","sequence":"first","affiliation":[{"name":"Wessex Neurological Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hagar","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Royal Liverpool and Broadgreen University Hospitals NHS Trust, Liverpool, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Rankin","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Hilton","sequence":"additional","affiliation":[{"name":"Department of cellular and anatomical pathology, University Hospitals Plymouth NHS Trust, Plymouth, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcelo A","family":"Barria","sequence":"additional","affiliation":[{"name":"The National CJD Research & Surveillance Unit, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane L","family":"Ritchie","sequence":"additional","affiliation":[{"name":"The National CJD Research & Surveillance Unit, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, University of Edinburgh, Edinburgh, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Zeman","sequence":"additional","affiliation":[{"name":"College of Medicine and Health, University of Exeter, Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2021,6,22]]},"reference":[{"key":"2025082709075957000_14.6.e241289.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2009.02181.x"},{"key":"2025082709075957000_14.6.e241289.2","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/B978-0-444-63945-5.00015-5","article-title":"Handbook of clinical neurology","volume":"153","author":"Cracco","year":"2018","journal-title":"Human Prion Diseases"},{"key":"2025082709075957000_14.6.e241289.3","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(03)00323-5"},{"key":"2025082709075957000_14.6.e241289.4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198610163151605"},{"key":"2025082709075957000_14.6.e241289.5","first-page":"273","article-title":"Review: prion disease genetics. 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