Family fatal insomnia

The family fatal Insomnie (IF) is a human transmissible encephalopathy (EST) spongiform related to an anomaly of gene of the protein prion.

Epidemiology

Forty families in the world are concerned with this disease. The IF was initially described in Italy in the Eighties. The Middle Age of beginning is of approximately 50 years. The disease develops towards a fatal outcome into 6 to 32 months.

Diagnosis

Clinical aspects

The disease is characterized by:

a clinical Insomnia
a dissociated oneiric activity, made rich person Hallucination S
Of the disorders of the conscience with Hypersomnolence, confusional state
Of the vegetative disorders
Of the driving disorders (the myoclonies are rare, contrary to the Maladie of Creutzfeldt-Jakob)
an often late irrational state

Complementary examinations

The EEG of day before is not very disturbed The EEG of sleep finds a disappearance during the evolution of the disease of the delta activity, of the spindles of sleep, the complexes K. It exists abnormal phases of paradoxical Sommeil. Genetic analyzes make it possible to highlight a specific change of code 178 and 179 of gene PRNP, which signs its membership of the diseases with prion.

The histological analyzes make it possible to highlight lesions specific to the level of the brain, with a discrete spongiose (with the difference of the Maladie of Creutzfeldt-Jakob).

Treatment

Unfortunately, there does not exist any treatment of family fatal insomnia at present

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