Short report
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
a Neurology Section,
Hospital General de Segovia, ctra de Ávila sn, 40001 Segovia, Spain, b Neurology Service, University Hospital
"Marqués de Valdecilla", Santander, Spain, c Neuropathology Section, University Hospital
"12° de Octubre", Madrid, Spain, d Clinical
Neurophysiology Service, University Hospital "Marqués de
Valdecilla", Santander, Spain, e Pathology Service, University Hospital
"Marqués de Valdecilla", Santander, Spain, f Health Institute "Carlos III", Madrid, Spain
Correspondence to: Dr César Tabernero ctabernerog{at}meditex.es
Received 13 August
1999 and in revised form 3 February 2000;
Accepted 9
February 2000
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.
Keywords: prion diseases; thalamus; sleep disorders
© 2000 by Journal of Neurology, Neurosurgery, and Psychiatry
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