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Fatal Familial Insomnia


Presentation

  • These two conditions characteristically have differing clinical presentations with dramatically different clinical course and outcomes. Here, we present a case of FFI mimicking HE.[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]
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
  • 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]
  • 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]
  • 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]
Hypersomnia
  • The son of the patient's great-aunt (II:1) had gradually developed hypersomnia, gait disturbance, ataxia, and dysarthria. His cerebrospinal fluid study was positive for 14-3-3 protein.[karger.com]
  • A study done evaluating clinical data from 41 German FFI patients showed that 96% of patients displayed organic sleep disturbances (including insomnia, hypersomnia, restless sleep, sleep attacks), 87% showed cognitive/memory deficits, and 87% showed psychiatric[neurosciencefundamentals.unsw.wikispaces.net]
Epilepsy
  • . * Their latest update is that they have hired a physician who specialises in epilepsy. The video gives a sensationalised picture of FFI - a disease that is very little researched upon, thus known about.[neurosciencefundamentals.unsw.wikispaces.net]
Pathologist
  • Elio Lugaresi , shipped his brain tissue to Lugaresi's former student -- a pathologist in the United States who could take a much closer look at what was going on. Dr.[alaskasleep.com]
Aspiration
  • The patient developed multiple aspiration pneumonias and passed away in hospital. The diagnosis was confirmed with genetic testing which showed PRNP c.532G A (p.Asp178Asn) and PRNP c.385A G (pMet129Val).[n.neurology.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]
  • The dysautonomia includes hyperhidrosis, hyperthermia, tachycardia, and hypertension.[nejm.org]
Behavior Disorder
  • Prominent motor overactivation during rapid eye movement (REM) sleep sometimes leads to misinterpretation of FFI as an REM sleep behavioral disorder (RBD).[journals.lww.com]
  • The symptoms are continuous sweating, tremor, behavioral disorders, cognitive deficit, and rapid, unstoppable weight loss.[marionegri.it]
Incontinence
  • The individual at this point looks much older and may experience incontinence. The fourth stage is around six months long and is recognized as dementia, total insomnia and sudden death after becoming mute.[www-personal.umd.umich.edu]
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]
Sleep Attack
  • "Exactly what you can feel if you get a sleep attack when you are driving," said Dr. Pietro Cortelli , one of the researchers Silvano approached at the University of Bologna. "You are falling asleep, and then you wake up."[alaskasleep.com]
  • A study done evaluating clinical data from 41 German FFI patients showed that 96% of patients displayed organic sleep disturbances (including insomnia, hypersomnia, restless sleep, sleep attacks), 87% showed cognitive/memory deficits, and 87% showed psychiatric[neurosciencefundamentals.unsw.wikispaces.net]
Motor Symptoms
  • FFI presents with insomnia and dysautonomia, while cognitive and motor symptoms appear later in the course of the disease.[n.neurology.org]
Involuntary Movements
  • A 46-year-old man displayed involuntary movements during sleep time, snoring, autonomic nervous system dysfunction, cognitive deficit, brainstem symptoms, myoclonus and ataxia in order within 8 months.[ncbi.nlm.nih.gov]
Lethargy
  • Patient IV-5 At the age of 25 years, this male patient started suffering from progressive tiredness and lethargy.[brain.oxfordjournals.org]

Workup

Amyloid Plaque
  • Indeed, recent studies have found a direct correlation between Alzheimer's, sleep loss, and the formation of amyloid plaques in the brain.[world-of-lucid-dreaming.com]
  • The disease also results in the formation of amyloid plaques. This is the build up of a waxy substance made of proteins associated with polysaccharides. The disease is a result of a mutation of a normal protein that is associated with brain tissue.[www-personal.umd.umich.edu]
  • Immunohistochemical confirmation of Creutzfeldt-Jakob disease with a long clinical course with amyloid plaque core antibodies . Am J Pathol 1988 ;131: 435 –43. Citing Articles (307) Article Figures/Media[nejm.org]
  • Immunohistochemical confirmation of Creutzfeldt-Jakob disease with a long clinical course with amyloid plaque core antibodies. Am J Pathol 1988 ;131: 435 –43. Citing Articles (354) Article Figures/Media[doi.org]

Treatment

  • Currently, there are no effective treatments for FFI, but researchers are searching for treatment and a cure.[patientworthy.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]

Prognosis

  • 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]

Etiology

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

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

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

Prevention

  • 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]

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