![]() ![]() Because of the extreme rarity of FFI, a paucity of reliable data exists on approaches and maximal treatment strategies for this disorder. Fatal familial insomnia is characterized by a devastating clinical course that includes recurrent sleep disorders, neurological dysfunction, and eventual death. 2 Over time these insoluble proteins congregate to form amyloid plaques throughout the CNS, particularly in the areas within or near the hypothalamus, leading to the characteristic deficits in hypothalamic function in individuals afflicted with FFI. 3 The disease arises from a mutation in the gene responsible for the expression of a protein resulting in the generation of insoluble proteins called prion proteins that contribute to the deterioration of vital neurological structures within the CNS. 3 It is transmitted in an autosomal dominant pattern and is characterized by behavioral problems, autonomic instability, hallucinations, and ultimately death. The following is an overview of agrypnia excitata with a particular emphasis on each of the three individual conditions that constitute the syndrome.įatal familial insomnia (FFI) is an extremely rare neurodegenerative prion disease. Agrypnia excitata evolves rapidly and runs a uniformly fatal course with most patients dying within months of symptom onset. The elevated autonomic state that typifies agrypnia excitata often manifests in the form of diffuse sweating, tachypnea, hypertension, elevated plasma cortisol, and catecholamine levels. 1, 2 In addition to persistent agrypnia, the three conditions all characteristically exhibit complete loss of slow-wave sleep on polysomnogram evaluation. ![]() 1, 2 All three conditions lead to generalized autonomic sympathetic activation associated with a stuporous state and marked motor and autonomic sympathetic activation. This triad of conditions has sleep disturbances as a unifying theme.” 1 When considered individually, each of the aforementioned three conditions results in distinct neurophysiological findings including deterioration of the thalamolimbic system. CC, cerebral cortex CJD, Creutzfeldt-Jakob disease FC, frontal cortex FFI, fatal familial insomnia M, molecular marker PrP Sc, misfolded form of the prion protein.“ A grypnia excitita as described constitutes a triad of three separate conditions, delirium tremens, Morvan’s chorea, and familial fatal insomnia (FFI). For the FFI case, PrP Sc analysis of FC and CC were considered (E). Western blot analysis of PrP Sc in FFI, codon 129 MM, type 2B (FFI), compared with sporadic CJD MM1 (sCJDMM1), type 1A sporadic CJD MM2 (sCJDMM2), type 2A and variant CJD MM (vCJD), type 2B. However, the paraffin-embedded tissue blot technique clearly demonstrated abnormal prion protein (D). Immunohistochemical assessment of abnormal prion protein expression was assessed using a number of antibodies but was mostly negative (C 12F10, 10× magnification) and only focal weak expression. Routine histological assessment using a H&E stain showed striking thalamic gliosis (A 10× magnification) confirmed by immunohistochemical assessment of glial fibrillary acidic protein expression (B 10× magnification). Neuropathological analysis, undertaken at the National Creutzfeldt-Jakob Disease Research and Surveillance Unit. Memory disorders neuro genetics sleep disorders (neurology). Patient management is with best supportive care and early suspected diagnosis allows for timely palliation. FI is a rare human prion disease with prominent sleep disturbance, autonomic, motor, cognitive and behavioural involvement. FFI is caused by an autosomal dominant and highly penetrant pathogenic Prion Protein gene PRNP Although usually familial, fatal insomnia (FI) also occurs in a rare sporadic form. Brain postmortem analysis revealed neuropathological changes in keeping with Fatal familial insomnia (FFI) the diagnosis was confirmed on genetic testing. The patient died from pneumonia and pulmonary embolus. Results of investigations were normal including MRI brain, electroencephalogram, cerebrospinal fluid (CSF, including CSF prion protein markers) and brain biopsy. The patient had progressive deterioration in short-term memory, ocular convergence spasm, tremor, myoclonus, gait apraxia, central fever, dream enactment and seizures. A previously well 54- year-old woman presented with a short history of diplopia, cognitive decline, hallucinations and hypersomnolence. ![]()
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