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Related Concept Videos

Insomnia01:27

Insomnia

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Insomnia is a prevalent sleep disorder characterized by difficulty falling asleep, frequent awakenings during the night, and waking up too early without being able to return to sleep. People with insomnia often experience these disruptions at least three nights a week for at least one month. Chronic insomnia, which lasts for at least three months, can lead to increased anxiety, which in turn can worsen sleep difficulties, creating a cycle of sleeplessness and stress.
Multiple factors contribute...
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Narcolepsy01:07

Narcolepsy

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Narcolepsy is a chronic sleep disorder characterized by pervasive, uncontrolled sleepiness and other sleep disturbances. One of its hallmark symptoms is an abrupt transition to REM sleep upon falling asleep, which causes symptoms typically associated with this phase to occur unexpectedly during wakefulness. These include the following symptoms, which typically last from a minute or two to half an hour.
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Management of Insomnia01:19

Management of Insomnia

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The sleep cycle, an integral part of human health, consists of several stages with distinct characteristics and functions. It begins with a transition from wakefulness to sleep, known as the light sleep phase, followed by the restorative deep sleep phase, essential for physical recovery and growth. The cycle concludes with the Rapid Eye Movement (REM) phase, characterized by high brain activity and vivid dreaming. Insomnia, a prevalent sleep disorder, involves difficulty falling asleep, staying...
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Sleep-Wake Cycles01:24

Sleep-Wake Cycles

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Sleep is an essential physiological process vital to maintaining overall well-being. The reticular activating system (RAS), a network of neurons in the brainstem, regulates wakefulness and sleep. While it may seem passive, sleep consists of distinct cycles, each with its unique characteristics and functions. Two key sleep phases are non-rapid eye movement (NREM) and  rapid eye movement (REM).
NREM Sleep
NREM sleep comprises four progressive stages that seamlessly merge:
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Sleepwalking and Sleep Talking01:17

Sleepwalking and Sleep Talking

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Somnambulism, commonly known as sleepwalking, involves individuals engaging in activities ranging from simple walking to more complex behaviors such as driving. Sleepwalking typically occurs during the slow-wave sleep stages 3 and 4 early in the night when the person is not dreaming, contradicting the myth that sleepwalkers are acting out their dreams.
Factors that increase the likelihood of sleepwalking include sleep deprivation and alcohol consumption. Contrary to common beliefs, it is safe...
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Sedatives and Hypnotics Drugs: Miscellaneous Agents01:17

Sedatives and Hypnotics Drugs: Miscellaneous Agents

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Sedatives and hypnotics encompass a wide range of substances, each with its unique mechanism of action, uses, and potential adverse effects.
Melatonin congeners like ramelteon (Rozerem) and tasimelteon (Hetlioz) selectively bind to melatonin receptors (MT1 and MT2) and thus mimic the actions of melatonin, a hormone that regulates sleep-wake cycles. Tasimelteon is primarily used for non-24-hour sleep-wake disorder, common in blind patients. They are also used to treat conditions like insomnia...
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Related Experiment Video

Updated: Jun 12, 2025

A Chronic Sleep Fragmentation Model using Vibrating Orbital Rotor to Induce Cognitive Deficit and Anxiety-Like Behavior in Young Wild-Type Mice
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Sporadic fatal insomnia.

Marta Del Chicca1, Elisabetta Belli2, Valentina Nicoletti3

  • 1Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy marta.delchicca@gmail.com.

Practical Neurology
|September 25, 2024
PubMed
Summary

Diagnosing sporadic fatal insomnia, a rare Creutzfeldt-Jakob disease subtype, requires advanced tools like RT-QuIC and polysomnography when initial tests are inconclusive. Comprehensive clinical evaluation is key for accurate diagnosis of this prion disease.

Keywords:
Creutzfeldt-Jakob diseasecognitiondementiaprion

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Area of Science:

  • Neurology
  • Prion Diseases
  • Neurodegenerative Disorders

Background:

  • Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, fatal neurodegenerative prion disease.
  • Sporadic fatal insomnia (sFI) is a rare and aggressive subtype of sCJD.
  • Early diagnosis of sFI is challenging due to non-specific initial symptoms and inconclusive standard tests.

Purpose of the Study:

  • To report a case of sFI diagnosed using advanced techniques.
  • To highlight the diagnostic challenges and utility of specific tests for sFI.
  • To emphasize the importance of clinical suspicion and comprehensive work-up in diagnosing rare CJD subtypes.

Main Methods:

  • Clinical case presentation of a 63-year-old male with suspected sFI.
  • Cerebrospinal fluid (CSF) analysis using real-time quaking-induced conversion (RT-QuIC).
  • Polysomnography (sleep study) to evaluate sleep disturbances.
  • Standard neurological work-up including MRI and EEG.

Main Results:

  • The patient presented with rapid cognitive decline, behavioral changes, sleep disturbances, and dysautonomia.
  • Initial MRI, EEG, and CSF analyses were inconclusive for sFI diagnosis.
  • RT-QuIC analysis of CSF and polysomnography were crucial for confirming the sFI diagnosis.
  • The combination of clinical evaluation and advanced diagnostics led to a definitive diagnosis.

Conclusions:

  • Definitive diagnosis of sFI, a rare sCJD subtype, can be challenging with standard methods.
  • RT-QuIC and polysomnography are essential advanced diagnostic tools for sFI.
  • Persistent clinical suspicion and comprehensive diagnostic strategies are vital for diagnosing rare neurodegenerative diseases like sFI.