Editing Fatal insomnia (section)

==Epidemiology and history==
[[File:FFI Diagrams.svg|thumb|Hypnogram comparing the sleep pattern of a healthy control with five FFI patients, who display decreased sleep efficiency and disrupted sleep cycles. ''[W: wake; R: REM; N1-3: NREM sleep stages].'']]
Fatal insomnia was first described by Elio Lugaresi et al. in 1986.

In 1998 40 families were known to carry the gene for FFI globally: eight German, five Italian, four American, two French, two Australian, two British, one Japanese and one Austrian.<ref>{{cite journal | vauthors = Montagna P, Gambetti P, Cortelli P, Lugaresi E | title = Familial and sporadic fatal insomnia | journal = The Lancet. Neurology | volume = 2 | issue = 3 | pages = 167–176 | date = March 2003 | pmid = 12849238 | doi = 10.1016/S1474-4422(03)00323-5 | s2cid = 20822956 }}</ref> In the [[Basque Country (autonomous community)|Basque Country]] of Spain, 16 family cases of the 178N mutation were seen between 1993 and 2005 related to two families with a common ancestor in the 18th century.<ref>{{cite journal | vauthors = Parchi P, Capellari S, Chin S, Schwarz HB, Schecter NP, Butts JD, Hudkins P, Burns DK, Powers JM, Gambetti P | title = A subtype of sporadic prion disease mimicking fatal familial insomnia | journal = Neurology | volume = 52 | issue = 9 | pages = 1757–1763 | date = June 1999 | pmid = 10371520 | doi = 10.1016/S0304-4858(07)74572-9 }}</ref> In 2011, another family was added to the list when researchers found the first man in the Netherlands to be diagnosed with FFI. Whilst he had lived in the Netherlands for 19 years, he was of Egyptian descent.<ref name="Jansen et al." /> Other prion diseases are similar to FFI and may be related but are missing the ''D178N'' gene mutation.<ref name="Cortelli et al." />

{{as of|2022|9|20}}, 37 cases of sporadic fatal insomnia have been diagnosed.<ref name=GARD2019/> Unlike in FFI, those with sFI do not have the ''D178N'' mutation in the ''PRNP''-prion gene; they all have a different mutation in the same gene causing [[methionine]] [[homozygosity]] at [[codon]] 129.<ref>{{cite journal | vauthors = Mehta LR, Huddleston BJ, Skalabrin EJ, Burns JB, Zou WQ, Gambetti P, Chin SS | title = Sporadic fatal insomnia masquerading as a paraneoplastic cerebellar syndrome | journal = Archives of Neurology | volume = 65 | issue = 7 | pages = 971–973 | date = July 2008 | pmid = 18625868 | doi = 10.1001/archneur.65.7.971 | doi-access = free }}</ref><ref>{{cite journal | vauthors = Moody KM, Schonberger LB, Maddox RA, Zou WQ, Cracco L, Cali I | title = Sporadic fatal insomnia in a young woman: a diagnostic challenge: case report | journal = BMC Neurology | volume = 11 | pages = 136 | date = October 2011 | pmid = 22040318 | pmc = 3214133 | doi = 10.1186/1471-2377-11-136 | doi-access = free | department = Case report }}</ref>
Nonetheless, the methionine presence in lieu of the valine (Val129) is what causes the sporadic form of disease. The targeting of this mutation has been suggested as a strategy for treatment, or possibly as a cure for the disease.<ref>{{cite journal | vauthors = Tabaee Damavandi P, Dove MT, Pickersgill RW | title = A review of drug therapy for sporadic fatal insomnia | journal = Prion | volume = 11 | issue = 5 | pages = 293–299 | date = September 2017 | pmid = 28976233 | pmc = 5639864 | doi = 10.1080/19336896.2017.1368937 | doi-access = free }}</ref>

===Silvano, 1983, Bologna, Italy===
In late 1983 Italian [[neurologist]]/sleep expert Dr Ignazio Roiter received a patient at the [[University of Bologna]] hospital's sleep institute. The man, known only as Silvano, decided in a rare moment of consciousness to be recorded for future studies and to donate his brain for research in hopes of finding a cure for future victims.<ref name="pmid17406189">{{cite journal | vauthors = Schenkein J, Montagna P | title = Self-management of fatal familial insomnia. Part 2: case report | journal = MedGenMed | volume = 8 | issue = 3 | pages = 66 | date = September 2006 | pmid = 17406189 | pmc = 1781276 }}</ref>

In 1986, Lugaresi and colleagues first named and described in detail the clinical and histopathological features of fatal familial insomnia (FFI) [Lugaresi et al. NEJM]. This report was mostly based on a patient referred to as Silvano, who was diagnosed with sleep impairment in 1983 by Dr. Ignazio Roiter. Dr. Roiter referred the case to Prof. Elio Lugaresi, a well-known sleep expert, who, along with his colleagues, carried out advanced sleep analyses. As Silvano's condition quickly deteriorated, Lugaresi arranged for a postmortem neuropathological examination of the brain to be carried out by Dr. Gambetti, Lugaresi's former trainee. The collaboration of these two groups led to the 1986 publication [27]. At the time, a prion disease was not suspected due to a lack of prion-related histpathology and frozen brain tissue for advanced analysis. However, due to the devotion of Dr. Roiter and Silvano's family, more cases were obtained, resulting in the classification of FFI as a familial prion disease tied to the 178Asn genetic mutation. [Medori et al. NEJM, 1992]

===Unnamed American patient, 2001===
In an article published in 2006, Schenkein and Montagna wrote of a 52-year-old American man who was able to exceed the average survival time by nearly one year with various strategies that included vitamin therapy and [[meditation]], different stimulants and [[hypnotics]] and even complete [[sensory deprivation]] in an attempt to induce sleep at night and increase alertness during the day. He managed to write a book and drive hundreds of miles in this time, but nonetheless, over the course of his trials, the man succumbed to the classic four-stage progression of the illness.<ref name="pmid17406189" />

===Egyptian man, 2011, Netherlands===
[[File:FFI timeline.svg|thumb|Timeline of an FFI patient (same as the one above this one)]]
In 2011, the first reported case in the Netherlands was of a 57-year-old man of Egyptian descent. The man came in with symptoms of double vision and progressive memory loss, and his family also noted he had recently become disoriented, paranoid and confused. Whilst he tended to fall asleep at random during daily activities, he experienced vivid dreams and random muscular jerks during normal slow-wave sleep. After four months of these symptoms, he began to have convulsions in his hands, trunk and lower limbs while awake. The person died at age 58, seven months after the onset of symptoms. An [[autopsy]] revealed mild [[atrophy]] of the frontal cortex and moderate atrophy of the [[thalamus]]. The latter is one of the most common signs of FFI.<ref name="Jansen et al.">{{cite journal | vauthors = Jansen C, Parchi P, Jelles B, Gouw AA, Beunders G, van Spaendonk RM, van de Kamp JM, Lemstra AW, Capellari S, Rozemuller AJ | title = The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits | journal = Neuropathology and Applied Neurobiology | volume = 37 | issue = 5 | pages = 549–553 | date = August 2011 | pmid = 20874730 | doi = 10.1111/j.1365-2990.2010.01126.x | s2cid = 30722366 }}</ref>