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

The clinical presentation and evolution, neuropathological findings, and ge notyping of three members of a Spanish family affected with fatal familial insomnia are reported. The mother and two of her offspring developed a rapi dly evolving disease with insomnia and behavioural disorders 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 spongiosi s, and full neuropathological examination of her offspring showed thalamic and olivary degeneration with isolated focal cortical spongiosis. Genetic e xamination could only be performed in the contemporary patients and both ha rboured the prion protein (PrP) 178Asn mutation and homozygous 129 Met/Met genotype.