Article
Phenotypic variability in familial prion diseases due to the D178N mutation.
Journal of neurology, neurosurgery, and psychiatry - 1 Nov 2005
Zarranz J J, Digon A, Atarés B, Rodríguez-Martínez A B, Arce A, Carrera N, Fernández-Manchola I, Fernández-Martínez M, Fernández-Maiztegui C, Forcadas I, Galdos L, Gómez-Esteban J C, Ibáñez A, Lezcano E, López de Munain A, Martí-Massó J F, Mendibe M M, Urtasun M, Uterga J M, Saracibar N, Velasco F, de Pancorbo M M
Abstract excerpt
BACKGROUND: Between January 1993 and December 2003, 19 patients with familial prion diseases due to the D178N mutation were referred to the regional epidemiological registry for spongiform encephalopathies in the Basque Country in Spain, a small community of some 2,100,000 inhabitants. METHODS: Ten further patients belonging to the same pedigrees were retrospectively ascertained through neurological or...
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