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What Is Fatal Familial Insomnia

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Appendix A: Other Organic Disorders Frequently Encountered In The Differential Diagnosis Of Sleep Disorders

Fatal Familial Insomnia

Fatal familial insomnia141142 is a progressive disorder characterized by difficulty in falling asleep and maintaining sleep that develops into enacted dreams or stupor. Autonomic hyperactivity with pyrexia, excessive salivation, and hyperhidrosis leads to cardiac and respiratory failure. The disease is caused by a prion and it leads eventually to death. Sleep-related epilepsy143144 is the diagnosis when epilepsy occurs during sleep. Several epilepsy types are associated with sleep, including nocturnal frontal lobe epilepsy, benign epilepsy of childhood with centrotemporal spikes, and juvenile myoclonic epilepsy. Sleep-related headaches145146 are headaches that occur during sleep or on awakening from sleep. Chronic paroxysmal hemicrania, hypnic headache, or cluster headaches can all occur during sleep. Sleep-related gastroesophageal reflux147148 is characterized by regurgitation of stomach contents into the esophagus during sleep. Shortness of breath or heartburn can result, but occasionally the disorder is asymptomatic. Sleep-related coronary artery ischemia149150 is ischemia of the myocardium that occurs at night.

MD PhDDavid Rifkind, MD MSGeraldine L. Freeman, in, 2005

Regional Cerebral Blood Flow Changes During Sleep

More recently, positron emission tomography and Doppler flowmetry studies have shed light on the spatial and temporal dimension of CBF changes during sleep .

The brainstem-thalamo-cortical circuits responsible for the synchronization-desynchronization pattern, however, operate not only in sleep but also in other functional conditions . When different anesthetic agents are utilized, a common pattern of reduced 18-fluorodeoxyglucose utilization results in the same anatomic structures , suggesting that different anesthetics must affect the same anatomic targets to exert their action.16 The hypothesis is further supported by a study with an anesthetic of a different class this study reported “an EEG pattern very similar to stage IV sleep” and “a significant covariation between the thalamic and midbrain blood flow changes, suggesting a close functional relationship between the two structures.”17 These structures therefore represent the “common final path” for the synchronization-desynchronization pattern both in sleep and in anesthesia. Accordingly, CBF is rapidly restored in the centrencephalic brainstem-thalamic regions during the process of awakening.18

Cerebral blood perfusion during sleep may change not only quantitatively but also qualitatively. On the basis of local brain temperature changes, Azzaroni and Parmeggiani2223 suggested a carotid-vertebral shift in the quotas of CBF during REM sleep.

Egyptian Man 2011 Netherlands

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. While he tended to fall asleep during random 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.

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Absolute Contraindications To Organ Donation

Infectious Diseases

Absolute contraindications to organ donation include transmissible agents that can cause death of the recipient or a severe disease such as Creutzfeldt-Jakob disease and diseases caused by other prions such as kuru, Gerstmann-Sträussler-Scheinker syndrome, and fatal familial insomnia syndrome.26 Also contraindicated for acceptance are donor organs with human immunodeficiency virus infection active, disseminated, and invasive infection by other viruses, microbacteria, or fungi and systemic infection by methicillin-resistant staphylococci.

Malignancy

The presence of an active malignancy is an absolute contraindication to organ donation. Extracranial cancer that has the capacity to metastasize and has not been cured precludes organ donation. However, low-grade skin cancer, such as basal cell carcinoma and many squamous cell carcinomas, carcinoma in situ , and primary brain tumors without extracranial metastases do not exclude organ donation.29,30

Gayti B. Morris, … S. Kim Suvarna, in, 2019

Will I Pass On Fatal Familial Insomnia To My Children

Fatal Familial Insomnia

As weve pointed out earlier, this disease is predominantly passed down genetically. So, the bad news is that if youre diagnosed with fatal familial insomnia, theres a 50% chance of passing it onto your child.

Now, 50% could mean that your children will be fine. But its a high chance that you need to be wary about and warn your children of so they can be vigilant for the signs and symptoms before they show.

If youre diagnosed before having children, it may be worth thinking about adoption or other means of having children to prevent this gene from being passed on.

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Stages Of Fatal Insomnia

Fatal familial insomnia usually progresses through multiple stages, beginning with insomnia symptoms that worsen. As the name implies, fatal insomnia ends in death. The entire process from first symptom onset to death lasts about 18 months on average, though in some people, it can last as little as 7 months or as long as 73 months. Sporadic fatal insomnia tends to last longer, with an average duration of 30 months from first symptoms to death.

Experts have outlined four distinct stages of fatal familial insomnia. Some researchers say those with sporadic fatal insomnia experience these stages identically, but others suggest symptoms present differently. With sporadic fatal insomnia occurring so rarely, more research is likely needed to better understand similarities and differences in how the two disorders progress.

The stages of fatal familial insomnia are as follows:

  • Stage One : Insomnia appears and becomes worse over time. Vivid dreams might occur during sleep. Psychological symptoms, such as panic attacks and paranoia, might begin.
  • Stage Two : Mood changes appear or worsen, and anxiety or depression might set in. Nervous system dysfunction begins, marked by increased heart rate, blood pressure, temperature, sweating, breathing, and stress hormones. Trouble moving or changes in walking might occur.
  • Stage Three : The sleep cycle is severely disrupted. Sleeping is very difficult.

Autonomic And Hormonal Findings

Increased perspiration and salivation, impotence and constipation, tachycardia, systemic hypertension, and mild fever appear early and progressively worsen. Cardiovascular function tests disclose elevated background and stimulated sympathetic activity, progressively worsening throughout the clinical course . Twenty-four hour recordings show body temperature, heart and breathing rates, and systemic arterial pressure higher than normal. As the disease develops these values progressively rise, whereas the amplitude of circadian fluctuations diminishes . Twenty-four hour hormonal secretion studies disclose persistently elevated catecholamines and cortisol plasma concentration, whereas ACTH remains at normal levels and lacks physiological peaks. The nocturnal increase in melatonin secretion progressively subsides. The amplitude of the circadian oscillations of all hormones tested flattens with disease progression .

Figure 2

h in a short-evolution and long-evolution case of FFI. In the short-evolution case sleep is completely lost 3 months after disease onset. In the long-evolution case SWS and REM sleep are still present 13 months after disease onset. W, wakefulness SubW, subwakefulness SWS, slow wave sleep REM, rapid-eye-movement sleep.

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Fatal Familial Insomnia Ffi

GROWTH Weight RESPIRATORY ABDOMEN Gastrointestinal GENITOURINARY Bladder SKIN, NAILS, & HAIR Skin METABOLIC FEATURES

â¼TEXT

A number sign is used with this entry because fatal familial insomnia is associated with mutation in the prion protein gene .

â¼Description

Fatal familial insomnia is a prion disorder showing autosomal dominant inheritance. It is clinically characterized by insomnia with or without a diurnal dreaming state, hallucinations, delirium, and dysautonomia preceding motor and cognitive deterioration. FFI is specifically associated with the asp178-to-asn mutation of the PRNP gene when the amino acid at position 129 is methionine . The D178N mutation and the val129 allele results in Creutzfeldt-Jacob disease . CJD typically presents with dementia, ataxia, myoclonus, and other abnormal movements however, there is considerable clinical and pathologic overlap between FFI and CJD, and some individuals with D178N and met129 may present with a phenotype suggestive of CJD. Thus, FFI and CJD may be viewed as extremes of a phenotypic spectrum .

â¼Clinical Features

reported that despite a thorough search for similar cases in the literature and through neurologists and neuropathologists, the only additional cases they found were members of the same kindred: 4 in a branch of the family that emigrated from Italy to Belgium and France and 1 from the Italian branch of the family.

Clinical Variability

â¼Inheritance

â¼Pathogenesis

â¼Molecular Genetics

â¼Animal Model

What Is Fatal Familial Insomnia And How Do I Know If I Have It

Fatal Familial Insomnia
Sleep is absolutely essential for us to be our healthiest and happiest.

A lack of sleep wont just cause you to be grumpy and slow, it can have dire effects to your health, mental wellbeing and increase your risk for certain diseases like heart disease, cancer and diabetes. Thats why its important to get your recommended 8 hours a night.

Unfortunately for some people, sleep is impossible. And for a very rare set of individuals, theyre suffering from a fatal condition that deprives them of sleep until they die, called fatal familial insomnia.

In this guide, were going to tell you what is fatal familial insomnia, what causes it and how to tell if youre having some sleepless nights or if you are one of the rare people who might have this fatal condition.

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Do I Have Fatal Familial Insomnia

For a doctor to diagnose you with fatal familial insomnia or the genetic variant, you need to undergo a sleep study and possibly have a PET scan. The scan will be able to indicate if your thalamus is underactive. During the sleep study, doctors will examine your brain activity during sleep . They can also measure what is happening in your brain while you are struggling to fall asleep. A sleep study will also be able to show if there are other possible causes of your insomnia, such as sleep apnea.

Whats Fatal Familial Insomnia

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What Are The Causes

Scientists are still learning about this condition, but what they have discovered is that FFI occurs in most cases when there is an abnormal variant of the prion-related protein gene. This leads to abnormally shaped prion proteins, which are toxic to the body.

Prion diseases cause the loss of nerve cells in parts of the brain. In this case, FFI affects the thalamus. The loss of nerve cells in this part of the brain can interfere with the bodys ability to fall asleep and can lead to brain damage and dementia.

Daniels Response Was To Buy A Motorhome And Travel Across The Us

Angelman Syndrome Insomnia

In a conversation a few years later, he started to sound confused and vague. At some point, he said pardon me if I sound incoherent but I havent slept for five days, says Schenkein. Medical tests revealed he was carrying the FFI mutation. Worse still, it was the form that should progress most rapidly.

Rather than crumbling into despair, his response was to buy a motorhome and travel across the US. He was an adventurous spirit he wasnt just going to sit there and die, Schenkein says. As the symptoms became more extreme, he employed a driver, and then a nurse, to take over the steering wheel when he was too unwell, she says.

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How Much Sleep Loss Is Fatal

The longer you go without sleep, the worse youll feel. Youll also increase health risks for conditions like heart disease, cancer, diabetes and more.

Theres no definitive answer with how much sleep deprivation is fatal. In some cases, even a small lack of sleep can prove fatal as it might cause accidents, particularly if you are driving or operating heavy machinery.

In the short term, this is what happens to your body without sleep.

At 24 hours, youll start feeling the effects of sleep deprivation. These will include:

  • Mood changes, such as feeling irritable and increases stress.
  • Lapses in concentration and problems with short term memory.
  • Reduced coordination and a higher risk of accidents.
  • Impaired judgement.
  • Increased blood sugar levels.
  • Muscle tension.

The CDC also states that staying awake this long is comparable to having a blood alcohol content of 0.10% which is over the legal driving limit. If you havent slept, you should avoid driving or operating any heavy machinery to avoid accidents or fatal incidents.

At 36 hours, your health will take a sharp decrease. This is where you have high levels of inflammatory markers in your blood, which contribute to high blood pressure and heart disease.

In addition, youll suffer from more mood swings. Your short-term memory also becomes more affected at this point, leaving you with blank hours that you cannot recall.

The more time goes on, the worse the symptoms get.

How Is Fatal Familial Insomnia Diagnosed

FFI is diagnosed using a combination of tests, family history, and a physical exam. Everyone with FFI will have a mutated PRPN gene, but testing for this gene can only be done in specialized labs.

A sleep study, or polysomnography, can help document the limited sleep times and problems moving through sleep stages. A spinal tap may be needed to look for higher than normal levels of the 14-3-3 protein, which is a sign of nerve cell death.

A PET scan, or positron emission tomography, can create 3-dimensional images of the brains activity, including in the thalamus. MRI, or magnetic resonance imaging, and CT scans may help rule out other diseases.

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The Closest They Get To Normal Sleep Is A Kind Of Mindless Stupor Not Quite Asleep But Not Quite Aware

Compounding these issues, the brains rhythms are now in complete disarray. During the night, we normally experience periodic cycles of rapid eye movement punctuated by a deeper slow wave sleep. During this stage, low-frequency oscillations of electrical activity ripple across the cortex the gnarled, bark-like tissue on the surface of the brain. This appears to calm down the buzz of coordinated conscious activity youd normally see when we are awake, while also performing important maintenance work, such as consolidating our memories. And what nub of neural tissue deep in the brain orchestrates those delicate rhythms? The thalamus. Lacking this dimmer switch, the FFI patients are always switched on and can never descend into deep, restorative sleep, says Angelo Gemignani at the University of Pisa, who has demonstrated that people with FFI are missing this important pattern of brain activity.

At periodic points in the night, people with FFI may enter a kind of trance in which they mindlessly act out daily activities

Slowed decline

One remarkable patient, however, has hinted that there may be some unusual ways to alleviate the misery. A psychologist at Touro College in New York, Joyce Schenkein first came across Daniel not through her work, but through a radio chat line . His profile was very clever he was a brilliant guy, extremely funny, she says they ended up having a long-distance friendship.

Unnamed Patient Of Schenkein And Montagna 2001

Fatal Familial Insomnia – Documentary

One person was able to exceed the average survival time by nearly one year with various strategies, including vitamin therapy and meditation, using 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 person succumbed to the classic four-stage progression of the illness.

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Fatal Familial Insomnia Is A Prion Disease

Fatal familial insomnia is a prion disease.

Sometimes prion diseases are called transmissible spongiform encephalopathies because some of them are contagious, but fatal familial insomnia is not contagious.

A prion is a protein called PrPc, and its function is not known. When it is folded in an abnormal shape, as in fatal familial insomnia, it is called PrPSc. These abnormal prions build up in several areas of the brain, and their presence is toxic, causing damage. Experts say that the toxic proteins may build up over years, and then suddenly cause symptoms when the brains functions are severely impaired.

He Even Tried Electroconvulsive Therapy To See If The Sharp Electric Shock Could Knock Him Out

Despite these successes, Daniel still faced regular relapses that became more intense as the disease progressed. When the symptoms reared themselves, he couldnt do anything, says Schenkein. There were times when he lost the whole day it takes over your consciousness. He could sit there without the initiative to move hed be frozen in time. Once, he tried electroconvulsive therapy to see if the sharp electric shock could knock him out it did, but he suffered such bad amnesia afterwards that it seemed a far from ideal solution. After a few years of this struggle, he too finally passed away.

Clearing the debris

Although none of the treatments provided long-term relief, Daniel lived years longer than his diagnosis might have predicted. Schenkein points to recent evidence showing that slow-wave sleep triggers currents of cerebrospinal fluid to wash through the channels between brain cells, carrying away the debris and detritus from the days activity, and leaving it clean like the beach after high tide. Perhaps, by alleviating the insomnia, you can encourage this clean-up and forestall the brains further disintegration. Together with the Italian neurologist Pasquale Montagna , Schenkein wrote up the case study for a medical journal in the hope it may inspire others to look for measures to extend the life of patients with FFI.

Until recently, it looked like there was no escape from the genetic curse of fatal familial insomnia

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