Guest guest Posted December 8, 1998 Report Share Posted December 8, 1998 This was in the literature that I picked up at IU Med Center this weekend. Some of the words are quite scientific. FATAL FAMILIAL INSOMNIA EPIDEMIOLOGY Currently, we are aware of 17 families and 3 isolated individuals that carry the FFI mutation. To date, the FFI haplotype appears to be the third most common after the E200K-129M and P102L-129M haplotypes. CLINICAL PHENOTYPE The disease begins between 20 and 71 years of age (mean=49 years) and may have either a relatively short (6-13 months) or long (24-48 months) duration. This variability in the symptom duration is, at least in part, genetically determined. The cardinal clinical features are: insomnia (better defined as an increasing incapacity to generate sleep), dysautonomia and motor signs. The sleep disturbance when searched with polysomnography, is usually present at the onset of the disease, and progressively worsens. Impairment of autonomic function is also an early sign. It is characterized by increased sweating and salivation, constipation, impotence, hypertension,tachycardia, tachypnea, and mild fever. Motor manifestations include dysarthria and atazia and may predominate as presenting signs. The cognitive functions show impairment of vigilance and attention associated to a selective impairment of memory with a relative preservation of global intelligence. It then goes on and explains the Histopathology, Genotype-Phenotype correlation,Prion Protein in FFI and CJD178, Transmissibility of FFI, FFI and its relationship with thalamic dementia: Does the sporadic form of FFI exist? All these were very scientific and greek to me. If anyone would like copies, I would be glad to send them out. Robin Quote Link to comment Share on other sites More sharing options...
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