Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family
- C Taberneroa,
- J M Polob,
- M D Sevillanoa,
- R Muñozb,
- J Bercianob,
- A Cabelloc,
- B Báezc,
- J R Ricoyc,
- R Carpizod,
- J Figolse,
- N Cuadradof,
- L E Claveriaa
- aNeurology Section, Hospital General de Segovia, ctra de Ávila sn, 40001 Segovia, Spain, bNeurology Service, University Hospital “Marqués de Valdecilla”, Santander, Spain, cNeuropathology Section, University Hospital “12º de Octubre”, Madrid, Spain, dClinical Neurophysiology Service, University Hospital “Marqués de Valdecilla”, Santander, Spain, ePathology Service, University Hospital “Marqués de Valdecilla”, Santander, Spain, fHealth Institute “Carlos III”, Madrid, Spain
- Dr César Taberneroctabernerog{at}meditex.es
- Received 13 August 1999
- Revised 3 February 2000
- Accepted 9 February 2000
Abstract
The clinical presentation and evolution, neuropathological findings, and genotyping of three members of a Spanish family affected with fatal familial insomnia are reported. The mother and two of her offspring developed a rapidly 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 spongiosis, and full neuropathological examination of her offspring showed thalamic and olivary degeneration with isolated focal cortical spongiosis. Genetic examination could only be performed in the contemporary patients and both harboured the prion protein (PrP) 178Asn mutation and homozygous 129 Met/Met genotype.
