Dead tired: A beginner’s guide to Fatal Familial Insomnia

For most of my life I have “suffered” from insomnia. I deliberately put the word ‘suffered’ in quotation marks as for the vast majority of the time I have always seen my lack of sleep as something positive (i.e., I had more time to do other things. In fact, when people ask me how I find the time to write so much, I usually say “Insomnia” but I don’t usually say it as a joke, it’s a matter of fact). Given my personal interest in insomnia, I’ve always enjoyed reading papers on insomnia (and no, they don’t send me to sleep!) and sexsomnia (which I looked at in a previous blog). In 1990, a Finnish man named Toimi Soini stayed awake for over 11 days (276 hours) and broke the world record for not going to sleep. However, this record no longer appears in the Guinness Book of World Records as it was withdrawn on health grounds because lack of sleep – as I’ll show in today’s blog – can lead to death.

One of the strangest (and deadliest) types of insomnia is ‘fatal familial insomnia’ (FFI). This is actually an incredibly rare genetic sleep disorder that affects around 40 families worldwide. The cause of FFI is a genetic mutation that leads to prion disease and is therefore related to bovine spongiform encephalopathy (BSE; i.e., ‘mad cow disease’), Creutzfeldt–Jakob disease (the human form of BSE), and ‘Kuru’ (the incurable and degenerative neurological disorder found in the cannibalistic tribes in New Guinea and known as the ‘laughing disease’). The (online) Medical Dictionary is a little more technical and notes:

“Fatal familial insomnia (FFI) is a very rare, autosomal dominant inherited, disease of the brain. It is caused by a mutation in a protein called prion protein (PrP): asparagine- 178 is replaced by aspartic acid. The mutation changes the shape of PrP so that it becomes a prion and makes other, normal PrP molecules change to the abnormal shape. This causes amyloid plaques in the thalamus, the region of the brain responsible for regulation of sleep patterns. The dysfunction of the thalamus results in insomnia first of all, which progresses to more serious problems over several years”

All prion diseases (known more scientifically as ‘transmissible spongiform encephalopathies’) are rare progressive neurodegenerative disorders that can affect both animals and humans. All of the prion diseases (including FFI) typically have (i) long incubation periods, (ii) a failure to induce inflammatory response, and (iii) characteristic spongiform changes that are associated with neuronal loss. The first recorded case of FFI is thought to be an Italian man who died in Venice in 1765. There are many descriptions of the disease online including case study accounts. The Wikipedia entry on FFI described the case of the American music teacher, Michael Corke from Chicago:

“He suddenly began to have trouble sleeping not long after his 40th birthday in 1991, and his health and state of mind quickly deteriorated as his sleeplessness grew worse. Eventually, he couldn’t sleep at all, and he was soon admitted to the hospital. Doctors there weren’t sure what was wrong with him, initially diagnosing multiple sclerosis; in a bid to send him to sleep in the later stages of the disease, physicians induced a coma with the use of sedatives, but they found that his brain still failed to shut down. Corke died in 1992 a month before his 41st birthday, by which time he had gone without sleep for six months”

Another 2011 online article on “bizarre brain disorders” by Anna McGann also described a family case study (which is very similar to paper published in a 2000 issue of the Journal of Neurology, Neurosurgery and Psychiatry by Dr. C. Tabernero and colleagues):

“Dr. Ignazio Rottier gained unwanted firsthand experience when he and his wife, Elisabetta, watched her family fall victim to [FFI]. First known to fall ill was Elisabetta’s grandfather. Decades later, Elisabetta’s uncle, Silviano, was 53 when he lost his ability to sleep. A few short months following initial onset, Silviano fell into a coma and died…In the 70s, an aunt of Elisabetta’s passed on, one year after her own initial onset of sleeplessness. Yet another year later, a second aunt too lost her life battling the very same affliction”.

Research has also shown that the condition (in a few cases) can result from a non-inherited genetic mutation that has been called ‘sporadic fatal insomnia’ (sFI). Less than 10 cases of sFI have ever been documented in the medical literature. As the conditions worsen, sufferers experience a wide range of symptoms including delirium, hallucinations (auditory, visual and tactile), elevated heart rate and blood pressure, hyperhidrosis (i.e., excess sweating), hyperthermia, hypertension, impotence (in men), amenorrhea (cessation of periods) and early menopause (in women), constipation, and dementia. Treating the symptoms (via vitamin therapy, meditation, use of narcoleptics) may extend the quality of life (but as noted above, there is no known cure and most interventions are purely palliative). The disease typically has four stages, and takes between half a year and a year and a half to run its course:

  • Stage 1 (typically four months): Symptoms include insomnia, paranoia, phobias and panic attacks.
  • Stage 2 (typically five months): Symptoms include severe hallucinations and increasing panic attacks.
  • Stage 3 (typically three months): Symptoms include permanent insomnia, limited mental functioning, and rapid weight loss.
  • Stage 4 (typically six months): Symptoms include dementia and general non-responsiveness leading to death.

Writing in a 2006 issue of the Medscape General Medicine journal, Dr. Joyce Schenkein outlined the etiology and characteristics of FFI. She noted that it often begins in middle age (average age of onset being 50 years) and has no cure (even ‘gene therapy has been unsuccessful to date). Unfortunately, the prognosis following initial diagnosis is poor with FFI sufferers’ only living for an average of about a year and a half (with Dr. Schenkein noting that survival ranged from 7 to 36 months from diagnosis of FFI). It originates in the form of unexplained sleeplessness before rapidly developing into a fatal insomnia. Writing in an issue of the Journal of Clinical Neuroscience, Dr. S. Collins and colleagues in a paper on prion diseases (including FFI) concluded:

“FFI [is] likely [to] remain, [a] very rare disease, [and] will be increasingly recognised as heightened clinical awareness prompts appropriate confirmatory genetic and other testing. Similarly, continued molecular biological and allied research of these less common prion diseases will undoubtedly provide fundamental insights into the pathogenesis of this group of disorders in general, disproportionate to their numerical frequency”.

Dr Mark Griffiths, Professor of Gambling Studies, International Gaming Research Unit, Nottingham Trent University, Nottingham, UK

Further reading

Collins, S., McLean, C.A. & Masters, C.L. (2001). Gerstmann–Sträussler–Scheinker syndrome, fatal familial insomnia, and kuru: a review of these less common human transmissible spongiform encephalopathies. Journal of Clinical Neuroscience, 8, 387–397.

McGann, A. (2011). 5 bizarre brain disorders. Suite 101, November 25. Located at:

Moody, K.M., Schonberger, L.B., Maddox, R.A., Zou, W.Q., Cracco, L., & Cali, I. (2011). Sporadic fatal insomnia in a young woman: a diagnostic challenge: case report. BMC Neurology, 11, 136.

Schenkein, J. (2006). Self-management of fatal familial insomnia. Part 1: What Is FFI? Medscape General Medicine, 8(3), 65.

Schenkein, J. & Montagna, P (2006). Self-management of fatal familial insomnia. Part 2: Case report. Medscape General Medicine, 8(3), 66.

Tabernero, C., Polo, J.M., Sevillano, M.D., Muñoz, R., Berciano, J., Cabello, A., Báez, B., Ricoy, J.R., Carpizo, R., Figols, J., Cuadrado, N., Claveria, L.E. (2000). Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family. Journal of Neurology, Neurosurgery and Psychiatry, 68, 774–777.

Turner, R. (2012). Fatal Familial Insomnia: 
The FFI Sleep Disorder. World of Lucid Dreaming. Located at:

Wikipedia (2012). ‪Fatal familial insomnia‬. Located at:

About drmarkgriffiths

Professor MARK GRIFFITHS, BSc, PhD, CPsychol, PGDipHE, FBPsS, FRSA, AcSS. Dr. Mark Griffiths is a Chartered Psychologist and Professor of Behavioural Addiction at the Nottingham Trent University, and Director of the International Gaming Research Unit. He is internationally known for his work into gambling and gaming addictions and has won many awards including the American 1994 John Rosecrance Research Prize for “outstanding scholarly contributions to the field of gambling research”, the 1998 European CELEJ Prize for best paper on gambling, the 2003 Canadian International Excellence Award for “outstanding contributions to the prevention of problem gambling and the practice of responsible gambling” and a North American 2006 Lifetime Achievement Award For Contributions To The Field Of Youth Gambling “in recognition of his dedication, leadership, and pioneering contributions to the field of youth gambling”. His most recent award is the 2013 Lifetime Research Award from the US National Council on Problem Gambling. He has published over 600 research papers, four books, over 130 book chapters, and over 1000 other articles. He has served on numerous national and international committees (e.g. BPS Council, BPS Social Psychology Section, Society for the Study of Gambling, Gamblers Anonymous General Services Board, National Council on Gambling etc.) and is a former National Chair of Gamcare. He also does a lot of freelance journalism and has appeared on over 2000 radio and television programmes since 1988. In 2004 he was awarded the Joseph Lister Prize for Social Sciences by the British Association for the Advancement of Science for being one of the UK’s “outstanding scientific communicators”. His awards also include the 2006 Excellence in the Teaching of Psychology Award by the British Psychological Society and the British Psychological Society Fellowship Award for “exceptional contributions to psychology”.

Posted on October 19, 2012, in Case Studies, Psychiatry, Psychological disorders, Psychology and tagged , , , , , , , , , , , . Bookmark the permalink. 3 Comments.

  1. Thanks for this post. While I have been suffering from a more mundane insomnia lately I have been wondering about insights I might gain into my own problems (sleeping 4-5 hours a night and then waking completely alert and unable to let go and fall asleep again) by reading about the experiences of FFI victims. I see over and over one reference to a man who appeared to increase his quality of life and extend the period of decline pre-coma by using a variety of drugs, vitamins and other techniques.

    This description rang so true to me with my insomnia.

    “He likened his insomnia to the experience of approaching an open doorway, only to have it suddenly become inaccessible. He said that something of a “jolt” would overtake him and render him vitally awake. Subjectively, he found this experience to be exhilarating, similar to a drug-induced high.”

    This so precisely describes a bout of insomnia I suffered in 2008 that lasted several months. My sleep has never perfectly restored itself since and these past 9 days i feel like I am starting down the 2008 path again. I doubt I suffer FFI, since there is no sign of it in my family, and since I have had fairly stable, if inadequate, sleep patterns for much of the past 5 years since then. Still, the similarity of some of my symptoms make me wonder if the root cause for me has something to do with thalmus malfunction, and if so, I wonder what I can do about it.

  2. Two more commonalities during that 2008 event to FFI. That time also, I felt fully alert even on 1 or 2 hours of sleep and my weight began to drop precipitously. I began to go to great lengths to increase my caloric intake to little avail. (From some other symptoms I am convinced the efficiency of nutrient absorption in my instestines was shot.) Also, zolpidem (ambien) had virtually no effect on me at the 5mg dose I was taking. I would still wake after 2 hours, though I did learn that if I took it when I woke, I could sleep another hour. Never felt at all drowsy from it during the day. Weird.

  3. SFI is not based on a genetic mutation. It is a sporadic disease in which prions identical to the ones in ffi occur with no apparent gene mutation. The disease course is almost identical to ffi.

    Nearly all cases of ffi follow a dominant pattern of inherited mutations but people can be born with the mutation with no family history. This is known as a somatic mutation. This person if they procreate could then pass on the disease.

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