Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family

The clinical presentation and evolution, neuropathological findings, and genotyp-ing of three members of a Spanish family aVected with fatal familial insomnia are reported. The mother and two of her oVspring developed a rapidly evolving dis-ease with insomnia and behavioural disor-ders as the initial symptoms and died between 5 and 10 months after the onset of the illness. Frontal brain biopsy in the mother disclosed only non-significant spongiosis, and full neuropathological ex-amination of her oVspring showed tha-lamic and olivary degeneration with isolated focal cortical spongiosis. Genetic examination could only be performed in the contemporary patients and both har-boured the prion protein (PrP) 178Asn mutation and homozygous 129 Met/Met genotype. (J Neurol Neurosurg Psychiatry 2000;68:774–777