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| Fatal Familian Insomnia | They were incapable to confirm the previously reported relationship between the status of the M/V polymorphism at codon 129 and age at onset of this disease.
In 2004 was described a family of Chinese descent in which at least 6 members spanning 4 generations were affected with autosomal dominant fatal familial insomnia.
At age of 36, the proband presented with myoclonus and refractory insomnia with somniloquism and dream enactment. Later he developed intermittent diplopia, dysphagia, dysarthria, ataxia, dementia, and dysautonomia, and died 12 months after onset.
Neuropathologic exam showed severe neuronal loss and gliosis in the thalamus, primarily in the ventral anterior, medial dorsal, lateral dorsal, and pulvinar nuclei. PrP(Sc) was extensively distributed throughout the brain.
Molecular analysis of the PRNP gene identified the D178N mutation and homozygosity for met129.
In 2004 report a French man with genetically confirmed FFI and heterozygosity for the met/val129 polymorphism who reported pseudohypersomnia behavior instead of insomnia.
He was at age 41 years with progressive fatigue, severe depression, and episodes of vertical diplopia. He developed severe gait ataxia and dysautonomia eighteen months later, including hyperthermia, hyperhidrosis, dysuria, and sexual impotence without changes in blood pressure.
He noted hypersomnia with frequent night hallucinations and agitation. Sleep and actigraphy studies endured 2.5 years after disease onset showed total disruption of physiologic sleep structure with dramatic reduction of total sleep, NREM sleep, and REM sleep, and normal rest activity.
Neuroendocrine researches showed disruption of the circadian rhythms of plasma melatonin, growth hormone, and cortisol. CSF hypocretin-1 levels were normal.
Though, the patient's 24-hour temperature oscillation, sleep-wake cycle, and rest activity conserved a circadian distribution, suggesting normal functioning of the biologic clock, the suprachiasmatic nuclei.
In 2004 it was suggested a central lesion that functionally disrupted the neuroendrocrine rhythms with respect to the suprachiasmatic nuclei.
In 2006 reported an 18-year-old man with FFI who presented with psychotic mood disturbances with catatonic features.
He had total insomnia, showed rapid progressive neurologic deterioration, and died 7 months after onset of insomnia. The researchers accentuated the unusual and early presentation, and they noted that psychiatric treatments, including medications and electroconvulsive therapy (ECT), worsened the disease course in this patient.
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