Impairment of functions of the nervous system
Ramar Sabapathi Vinayagam in Integrated Evaluation of Disability, 2019
computes the percentage of sleep efficiency. Chronic insomnia lasts longer than one month, that is, months or years (10,11). Section 4.5.3.1 in Chapter 4 describes the clinical profile of chronic insomnia. Insomnia with a short duration of sleep is associated with activation of both the limbs of stress system namely hypothalamic pituitary adrenal (HPA) axis and sympatho-adrenal-medullary axis (11). Fatal familial insomnia manifests broad spectrum of clinical symptoms and signs. It includes organic sleep disturbance, loss of weight, hyperthermia, hyperhidrosis, pruritus, obstipation, tachycardia; and psychiatric manifestations such as anxiety, depression, personality impairment, hallucinations, aggressiveness, disinhibition, and listlessness. It also includes cognitive or amnestic impairment, double vision, husky voice, dysarthria, bulbar speech, dysphagia, fasciculation of tongue, ataxia, pyramidal and extrapyramidal signs, myoclonus, and vegetative state (12). Table 6.2 describes impairment class for insomnia. Chapters 20 and 21 describes “Activity Participation Skill Assessment Scale” and “Personal Factors Measurement Scale” to evaluate restriction of social or limitation of occupational functioning.
Central nervous system: Adult-onset and psychiatric disorders
Angus Clarke, Alex Murray, Julian Sampson in Harper's Practical Genetic Counselling, 2019
The group of disorders comprising the prion dementias and Creutzfeldt-Jakob disease (CJD) is now recognised to be more common and to have a broader and more variable phenotype than as first thought. The late-onset but rapidly progressive dementia known as CJD is familial in around 15% of cases, showing clear autosomal dominant inheritance in a small proportion of these. Mutations in the prion protein gene on chromosome 20 have been shown to be present in most of these rare families, as well as in some families in which cerebellar involvement predominates with a more protracted course (Gerstmann-Sträussler-Scheinker syndrome). An unusual phenotype known as fatal familial insomnia has also proved to be due to a specific prion mutation. Other cases may be of a particular susceptible genotype, but no significant increase in risk to relatives of an isolated case exists unless a prion mutation is present.
Sleep–Wake Disorders
Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw in Hankey's Clinical Neurology, 2020
The common insomnias do not have any major central nervous system (CNS) pathology that has been identified to date. An important exception is fatal insomnia, a prion disease, which can occur in both sporadic and familial forms. It was first recognized in the familial form,30 which is caused by a missense GAC to AAC mutation at codon 178 of the prion protein gene, in association with a methionine polymorphism at codon 129 on the mutant allele. Interestingly, if codon 129 on the mutant allele codes for valine instead of methionine, the phenotype of familial Creutzfeldt–Jakob disease (CJD) results, rather than fatal familial insomnia.31 Sporadic fatal insomnia does not have a known mutation, but does have a homozygous methionine polymorphism at codon 129. Clinical presentation of both forms of fatal insomnia is similar, with initially insidious onset of difficulties with vigilance and initiating and maintaining sleep, followed by hypertension, evening hyperpyrexia, autonomic dysfunction, ataxia, myoclonus, and worsening dream-like stupor and hallucinations. Patients die usually in 8–72 months, either suddenly or from concomitant respiratory failure or infection. No effective therapy has been found.
A primer on sleeping, dreaming, and psychoactive agents
Published in Journal of Social Work Practice in the Addictions, 2023
Dyssomnias are disorders wherein a person experiences changes to sleep duration and sleeps too much or too little. Of the numerous sleep disorders, which fall under the dyssomnia category, insomnia, the difficulty of initiating or staying asleep, is the most common and has been classified as a North American public health crisis. Over 95% of the studied population have claimed to have experienced at least one period of insomnia during their lifetime (Sateia, 2014). With the exception of Fatal Familial Insomnia,1A rare genetic condition that causes progressively worsening insomnia there exists no consensus on any other intrinsic or primary insomnia. Secondary insomnia, often referred to as chronic insomnia disorder, does not involve intrinsic sleep-wake neurological systems that regulate transitions into and out of sleep, rather, it is typically linked to medical conditions, psychological issues, or everyday anxiety and work-related stress. Parasomnias are disruptions of behavior and consciousness during sleep, typically occurring between states, including sleep to waking, or REM to nREM sleep. Table 1 provides a summary of the ICDS-3 Major Diagnostic Sections and the affiliated sleep disorders.
Tackling prion diseases: a review of the patent landscape
Published in Expert Opinion on Therapeutic Patents, 2021
Marco Zattoni, Giuseppe Legname
Human prion diseases are etiologically divided into idiopathic, genetic, and acquired. Among the idiopathic forms, which accounts for the majority of prion diseases cases, there are sporadic Creutzfeldt-Jakob disease (sCJD) and variably protease-sensitive prionopathy. Genetic prion diseases, such as, fatal familial insomnia, genetic CJD and Gerstmann-Sträussler-Scheinker syndrome are characterized by autosomal dominant mutations in human PRNP gene. The acquired forms are very rare and account for ritual cannibalism, as Kuru, contamination through surgical instruments, as in the case of iatrogenic CJD, or consumption of animal products contaminated with the agent responsible for the bovine spongiform encephalopathies (BSE) [7]. The BSE epidemic, often referred to as ‘mad cow disease,’ has attracted the attention of the public health authorities and the scientific community since it was shown to cause a new variant form of Creutzfeldt-Jakob disease (vCJD) in humans [8,9]. Besides BSE, other prion diseases discovered in animals include scrapie in sheep and goats and chronic wasting diseases (CWD) in cervids, for which no transmission to humans has been shown so far, although their potential risk cannot be dismissed [10,11]
The cellular prion protein and its derived fragments in human prion diseases and their role as potential biomarkers
Published in Expert Review of Molecular Diagnostics, 2019
Katrin Thüne, Matthias Schmitz, Anna Villar-Piqué, Hermann Clemens Altmeppen, Markus Schlomm, Saima Zafar, Markus Glatzel, Franc Llorens, Inga Zerr
In humans, prion diseases appear in three principal forms: 1) sporadic forms mostly manifesting as sporadic Creutzfeldt-Jakob disease (sCJD), 2) inherited forms manifesting as genetic CJD (gCJD), fatal familial insomnia (FFI), or Gerstmann-Sträussler-Scheinker syndrome (GSS), and 3) forms acquired by infection/transmission including iatrogenic CJD cases, kuru and variant CJD (vCJD). Human prion diseases present with a wide-ranging clinical heterogeneity including rapidly progressive dementia, motor dysfunction, cerebral ataxia, myoclonus and insomnia [85–87].
Related Knowledge Centers
- Insomnia
- Paranoia
- Phobia
- Prion
- Dementia
- Neurodegenerative Disease
- Major Prion Protein
- Sporadic Disease
- Aphasia
- Panic Attack