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Connor Jennings

Case Report
Fatal Familial Insomnia

Summary Symptoms

Fatal Familial Insomnia is a neurodegenerative Insomnia (Constant Hypogognia)


genetic disorder caused by a mutation in the PRNP Dementia
Hallucinations
gene that causes the body to produce misshapen Profuse Sweating
Prion Protein PrPC. This misshapen prion destroys Hypothermia
the thalamus, a part of the center of the brain that Hyperthermia
controls the bodys sleep-wake cycle and allows Delyrium
other parts of the brain to communicate with each Myoclonus (Muscle Twitches)
Ataxia (Loss of control of body)
other. As the hole in the center of the brain expands,
Constipation
people suffering from FFI experience a variety of Diplopia (Double Vision)
symptoms, most notably the inability to progress past Dysarthria (Odd speaking patterns
very light sleep and the eventual complete inability due to lack of control of mouth)
to sleep. Insomnia caused by FFI differs from Small (Constricted) Pupils
standard insomnia in that the patient still becomes Panic Attacks/Phobias
Note: Not all symptoms occur at the same
tired but are physically incapable of going to sleep. time, some may start and stop at various
Complete insomnia usually begins about 9 months points during the progression of FFI.
before death, when the victim dies of exhaustion. FFI Complete insomnia always occurs during the
is universally fatal, there are no known cures. Almost last 9 months of the disease, Dementia is
all cases of FFI are inherited but it can very rarely often the first symptom.
occur sporadically. The gene that causes FFI is
autosomal dominant, so any offspring of a person
with the disorder have a 50% chance of inheriting the
disease.

History

The first recorded case of Fatal Familial Insomnia was a venetian man in 1765. For centuries his
family carried the disease and was repeatedly misdiagnosed by doctors. It wasnt until 1990 that FFI
was identified as a rare Neurodegenerative Prion Disease, in the same family as Creutzfeld-Jacobs
Disease and the bovine Mad Cow Disease, in all of these diseases misfolded prion proteins attack
and destroy neurons in the brain. The disease was identified when a descendant of the original
Venetian man started showing symptoms and his nieces husband, a doctor, convinced him to go to
a hospital; no one in the family who had FFI had gone to a doctor about their disease for decades,
figuring there was no cure. While research is ongoing there still is no cure, but some research has
provided partially effective treatments that allow patients to survive a few more months and suffer
less, such as the use of a sensory deprivation chamber to simulate sleep and lessen exhaustion.
Affected Ages Frequency

The first symptoms of Fatal Familial Insomnia most Fatal Familial Insomnia is incredibly rare, there are 40
often occur between the ages of 32 and 62, with an known families that carry the disease but the total
average age of 51, for people with the gene. Death occurs number has been estimated to be closer to 200. These
usually 12 to 18 months after the first symptoms appear families likely developed the gene separately through
(the characteristic symptom of total insomnia only occurs random mutation. There is also a very rare variant of FFI
for the last 9 months of the disease). called Sporadic Fatal Insomnia. Like FFI, SFI is caused
by misfolded Prion Proteins that destroy neurons in the
thalamus, but unlike FFI the misfolded prions are not
caused by the PRNP gene. It is not fully understood how
SFI occurs, but we do know that it cant be inherited and
it is extremely rare: there have only been 24 recorded
cases of SFI.

Research

Fatal Familial Insomnia was first identified in 1990 by Dr. Ignazio Roiter whos Uncle-in-Law had
the disease. The progress of the disease was well known in the family, so the list of symptoms and
when they usually occurred was known from the start. Dr. Roiter created a map of the disease his
family tree, identifying the gene causing it as autosomal dominant and locating instances of it. A
professor named Elio Lugaresi and his former student, Pierluigi Gambetti, discovered that the brain
patterns of people with FFI looked similar to those with Creutzfeldt-Jakob disease and found in
autopsies that people with FFI had a hole in their brain. These discoveries allowed FFI to be
classified as a Neurodegenerative Prion Disease and the cause of its symptoms to be discovered in
1992. Since then, progress on finding a cure for FFI and other Neurodegenerative Prion Diseases has
continued, with many avenues of research being pursued.

Changes in Treatment

Before Fatal Familial Insomnia was recognised as a Neurodegenerative Prion Disease in 1990, it
was frequently misdiagnosed as anything ranging from schizophrenia to alcohol withdrawal, and
thus the patient was often given treatment for for the disease they were assumed to have, which was,
unsurprisingly, consistently unsuccessful. No Neurodegenerative Prion Disease has a known cure, so
since its discovery the only option for treating FFI has been to keep the patient comfortable and
inform their family about their risk of having the disease. One patient with FFI managed to extend
his life for more than a year by using a variety of different treatments including sensory deprivation,
electroconvulsive therapy, vitamin supplements, and growth hormones. There are many other
treatments and cures currently being worked on, including various forms of immunotherapy.
Doxycycline, an antibiotic, is currently being tested as a potential cure in a clinical trial in Italy.
With the variety of potential cures, it is very possible that FFI and other Neurodegenerative Prion
Diseases will have cures in the future.
Statistics
Note: Fatal Familial Insomnia is incredibly rare and was only identified in 1990, so there isnt a lot of statistics about the disease. Additionally, so few families have the disease
giving any information about them would usually violate Doctor-Patient confidentiality. Due to this, this section of the case report will give statistics about Neurodegenerative
Prion Diseases in general.

Chronic Wasting Sickness (a Neurodegenerative Prion Disease


Creutzfeldt Jakob Disease occurs in 1.25 in 1 million people affecting cervids such as moose, deer and elk) is considerably more
worldwide. The total number of deaths has increased since recording common than other Neurodegenerative Prion Diseases. The number
began, but this is due to an increase in population, as shown by the of cervids with CWS is expected to grow and it is currently in 5% of
consistency of the age-adjusted death rate mule deer and 2% of white-tailed deer in northeastern Colorado and
southeastern Wyoming. The map above is a map of counties with
CWS in the US.

Data shows the prevalence of Bovine Spongiform Encephalopathy


(Mad Cow Disease). It rapidly increased up until 1988 when a ban
on a certain type of feed connected with BSE was introduced.
Citations

Robson, David. "Future - The tragic fate of the people who stop sleeping." BBC. BBC, 19 Jan. 2016. Web. 21 May
2017. <http://www.bbc.com/future/story/20160118-the-tragic-fate-of-the-people-who-stop-sleeping>.

"Fatal familial insomnia." Genetic and Rare Diseases Information Center. U.S. Department of Health and Human
Services, n.d. Web. 21 May 2017. <https://rarediseases.info.nih.gov/diseases/6429/fatal-familial-insomnia>.

"The Story of the Family that Couldn't Sleep." NPR. NPR, 17 Nov. 2006. Web. 21 May 2017.
<http://www.npr.org/templates/story/story.php?storyId=6503414>.

Schenkein, Joyce, PHD, and Pasquale Montagna, MD. "Self-management of Fatal Familial Insomnia. Part 2: Case
Report." Medscape. N.p., n.d. Web. 21 May 2017. <http://www.medscape.com/viewarticle/542964_2>.

"Creutzfeldt-Jakob Disease, Classic (CJD)." Centers for Disease Control and Prevention. Centers for Disease Control
and Prevention, 17 Mar. 2017. Web. 21 May 2017. <https://www.cdc.gov/prions/cjd/occurrence-transmission.html>.