Patient 1 was a 36-year-old man who presented with insomnia and myoclonus. In the subsequent 9 months, he developed ataxia and dementia, followed by death. [ncbi.nlm.nih.gov]

FFI presents with insomnia and dysautonomia, while cognitive and motor symptoms appear later in the course of the disease. [n.neurology.org]

The presentation of the disease varies considerably from person to person, even among patients from within the same family. [wikidoc.org]

• Progressive Dementia

  A 63-year-old man who had a history of gait ataxia developed rapidly progressive dementia with mild dysautonomic features. [ncbi.nlm.nih.gov]

  He presented with intractable insomnia, rapidly progressive dementia and autonomic disturbances. [karger.com]

  “From there, things progressed very, very rapidly,” Sonia says. “So she went into progressive dementia, and once that happens, you just lose abilities one by one.” [bostonglobe.com]

• Fatigue

  Sleep deprivation can cause a lot of unpleasant side effects, from fatigue to irritability to short-term memory loss, but most of us recover from our sleep loss. The exception? Those with a disease known as fatal familial insomnia (FFI). [health.howstuffworks.com]

  However, more extreme measures such as stimulant therapy for mere fatigue management and ECT for instant sleep induction are doubtable in their beneficial factors and practicality. [neurosciencefundamentals.unsw.wikispaces.net]

  Becker/ Duchenne muscular dystrophy Muscle weakness (rapidly progressive); frequent falls; difficulty with motor skills (running, hopping, jumping); progressive difficulty walking (ability to walk may be lost by age 12); fatigue; intellectual retardation [en.wikipedia.org]

• Fever

  At the age of 31 he came down with a severe fever and has suffered from total insomnia ever since. [world-of-lucid-dreaming.com]

  The autonomic dysregulation also manifests as fever and sweating. Affected persons are often described as inattentive, restless, and unable to concentrate. Cognition may also be affected. Secretion of adrenocortical hormones is increased. [enotes.com]

  Then it causes profuse sweating, accelerated breathing and heart rate and fever. Soon the sleep cycle breaks down, and the boundaries blur between wakefulness, REM sleep, and short-wave sleep. [sleepeducation.blogspot.com]

• Pallor

  Diagnosis suspected in infants or young children with painful swelling of the hands and feet, pallor, jaundice, pneumococcal sepsis or meningitis, severe anemia with splenic enlargement, or acute chest syndrome. [en.wikipedia.org]

• Hypersalivation

  Autonomic dysfunction followed, notably prominent hypersalivation and hyperthermia. [brain.oxfordjournals.org]

• Tachycardia

  He presented with tachycardia, progressive ataxia and poor sleep. He developed hallucinations, dysarthria, dysphagia requiring G-tube place. His cognitive and motor function declined over the course of 12 months. [n.neurology.org]

  Sympathetic hyperactivity (eg, hypertension, tachycardia, hyperthermia, sweating) may occur later. Sporadic fatal insomnia (sFI) lacks a PrP gene mutation. Average age at onset is slightly older and life expectancy is slightly longer than in FFI. [merckmanuals.com]

  His vital signs showed a marked fluctuation in blood pressure, tachycardia, and tachypnea. His initial body temperature was 38.0°C, which was stabilized after controlling his pneumonia. [karger.com]

• Muscle Weakness

  Becker/ Duchenne muscular dystrophy Muscle weakness (rapidly progressive); frequent falls; difficulty with motor skills (running, hopping, jumping); progressive difficulty walking (ability to walk may be lost by age 12); fatigue; intellectual retardation [en.wikipedia.org]

• Muscular Atrophy

  atrophy SMA 球脊髄性筋萎縮症 Spinal and Bulbar Muscular Atrophy SBMA 慢性炎症性脱髄性多発神経炎 chronic inflammatory demyelinating polyneuropathy CIDP 肥大性心筋症 Hypertrophic cardiomyopathy HCM 拘束型心筋症 Restrictive cardiomyopathy RCM ミトコンドリア心筋症 mitochondrial cardiomyopathy MCM [nanbyou-soudan.jp]

• Fear

  […] have investigated these afflictions are just as extraordinary–for example, Daniel Carleton Gajdusek, a self-described “pedagogic pedophiliac pediatrician” who cracked kuru and won the Nobel Prize, and another Nobel winner, Stanley Prusiner, a driven, feared [books.google.it]

  Violent Dreams May Precede Brain Disease Rare Brain Disorder Prevents All Fear [wired.com]

  When she fell ill, Mr Chan said, there was just one thing she feared - losing her memory. He said: "I told her: 'Don't worry. Even if you forget about all of us, all of us will remember you forever'." [straitstimes.com]

  Genetic Literacy Project. ^ Amy Harmon, "Insurance Fears Lead Many to Shun DNA Tests," The New York Times, February 24, 2008 ^ "Genetic Information and Medical Expense Insurance", American Academy of Actuaries, June 2000 ^ King, Elisabeth (2017). [en.wikipedia.org]

  Once the feared diagnosis of such terminal nature was delivered in 2001, with progression estimation of 10 months in (Stage 1), DF committed himself to make the most of the remainder of his life and took leave on a road trip in which he would self-implement [neurosciencefundamentals.unsw.wikispaces.net]

• Abnormal Behavior

  Case presentation A 58-year-old female was hospitalized for sleep disturbance and abnormal behaviors in October 2014. The reduction in sleep time and early awakening started in the middle of 2013. [ncbi.nlm.nih.gov]

• Delusion

  Delusions of persecution and social withdrawal were also present. Three days before admission, the patient began to show gait disturbance with mild postural instability. The patient had been in good health before disease onset. [karger.com]

• Insomnia

  […] familial insomnia dbpedia-ja :Fatal familial insomnia dbpedia-ko :Fatal familial insomnia dbpedia-nl :Fatal familial insomnia dbpedia-pl :Fatal familial insomnia dbpedia-pt :Fatal familial insomnia dbpedia-wikidata :Fatal familial insomnia freebase : [dbpedia.org]

  1 Fatal Familial Insomnia Медицина: Спорадическая фатальная инсомния Универсальный англо-русский словарь 2 fatal familial insomnia Медицина: Спорадическая фатальная инсомния Универсальный англо-русский словарь 3 fatal insomnia фатальная бессонница, смертельная [translate.academic.ru]

  These are the sources and citations used to research Fatal Familial Insomnia. [citethisforme.com]

  "Fatal Familial Insomnia by: Ann M. Akroush" Fatal Familial Insomnia Families Association website Template:Prion diseases [psychology.wikia.com]

  But believe me when I say that I'm happy with my "caffeine-induced insomnia" - especially when I inadvertently read about Fatal Familial Insomnia (FFI). FFI is caused by prions. [nature.com]

• Dysautonomia

  This patient also clinically had cognitive impairments such as memory disturbance, delirium, and hallucinations, along with insomnia, dysautonomia, and myoclonus. [ncbi.nlm.nih.gov]

  - Cardiovascular dysautonomia in fatal familial insomnia. Clinical Autonomic Research, I, 15–21, 1991. CrossRef Google Scholar 3. [link.springer.com]

• Myoclonus

  Patient 1 was a 36-year-old man who presented with insomnia and myoclonus. In the subsequent 9 months, he developed ataxia and dementia, followed by death. [ncbi.nlm.nih.gov]

• Forgetful

  It's as if, one day, the brain forgets how to sleep, and remains in a permanent state of wakefulness until death brings mercy. [world-of-lucid-dreaming.com]

  She started to forget where she put her keys and her mobile phone. Then, she couldn't remember what she had just eaten, who she was with and what happened yesterday." She also began to mix up day and night. "Her sleep became irregular. [straitstimes.com]

  Her mother had died a torturous death the previous year, less than 12 months after she had first turned forgetful. Soon she couldn’t finish sentences. She hadn’t slept, night after night, and had sunk quickly into dementia. [bostonglobe.com]

• Mental Deterioration

  The patient was a 58-year-old female, whose main clinical manifestations were insomnia, movement disorders, autonomic hyperactivity and mental deterioration. The patient also suffered a typical episode of transient global amnesia. [ncbi.nlm.nih.gov]

  Karger AG, Basel Introduction Fatal familial insomnia (FFI) is a rare disease characterized by intractable insomnia, dysautonomia, and mental deterioration [ 1 ]. [karger.com]

Recently, quinacrine and chlorpromazine have been suggested as immediate candidates for the treatment of Creutzfeldt-Jakob disease and other prion diseases. [ncbi.nlm.nih.gov]

A new face for old antibiotics: tetracyclines in treatment of amyloidoses. [doi.org]

Treatment and Therapy Palliative treatment has been the only reported treatment. Attempts to alter the disease course with medications have been unsuccessful. Fatal familial insomnia is considered untreatable. [enotes.com]

Its impact on the prognosis and survival of these patients, however, is yet to be elucidated. [ncbi.nlm.nih.gov]

[…] involves supportive care. [2] Sleeping pills, including barbiturates, have not been found to be helpful; on the contrary, in 74% of cases, they have been shown to worsen the symptoms and hasten the course of the disease. [16] [ disputed – discuss ] Prognosis [en.wikipedia.org]

Physicians caring for the case patient discussed the possibility of several diagnoses such as viral encephalopathy, paranoid schizophrenia, and subacute sclerosing panencephalitis, yet the overall etiology remained unclear. [dx.doi.org]

Fragile-X syndrome Mental retardation or learning disabilities of unknown etiology; autism or autistic-like characteristics; women with premature menopause. [en.wikipedia.org]

Additionally, by initiating an intensive tracing of family lines, the first suspected case of FFI was identified that is “Patient Zero” of Venice in 1700’s (Max, 2001), enabling the estimation of epidemiology of FFI. [neurosciencefundamentals.unsw.wikispaces.net]

Other research interests involve identifying biomarkers to track the progression of prion disease in living patients. [21] [22] Epidemiology [ edit ] It was reported in 1998 that 40 families in the world are known to carry the gene for FFI: 8 German, [en.wikipedia.org]

Luca Baldelli and Federica Provini, Fatal familial insomnia and Agrypnia Excitata: Autonomic dysfunctions and pathophysiological implications, Autonomic Neuroscience, 10.1016/j.autneu.2019.02.007, 218, (68-86), (2019). Gabor G. [doi.org]

Pathophysiology PrP sc has autocatalytic properties that cause normally soluble PrP to be converted into the PrP sc form upon interaction. [wikidoc.org]

Creutzfeldt-Jacob Disease, Predominant Among Chinese, has a Reactive Pattern in CSF RT-QuIC Different from D178N-Fatal Familial Insomnia and E200K-Familial CJD. ( 30838505 ) 2019 2 Fatal familial insomnia and Agrypnia Excitata: Autonomic dysfunctions and pathophysiological [malacards.org]

Pathophysiology Edit PrP sc has autocatalytic properties that cause normally soluble PrP to be converted into the PrP sc form upon interaction. [psychology.wikia.com]

Improved awareness and knowledge about sleep disturbances as essential symptoms of FFI would improve the accuracy of diagnosing FFI and the understanding of FFI pathophysiology. [journals.lww.com]

A conceptual framework and ethics analysis for prevention trials of Alzheimer Disease. [doi.org]

Preventive Medicine, 63, pp.24-28. Journal Montagna, P., Gambetti, P., Cortelli, P. and Lugaresi, E. [citethisforme.com]

Prevention and Outcomes There is no known way to prevent the disease in a carrier. Prenatal diagnosis is theoretically possible. Bibliography Bosque, Patrick J., and Kenneth L. Tyler. [enotes.com]