Familial Prion Diseases in the Basque Country (Spain)
2004; Karger Publishers; Volume: 24; Issue: 1-2 Linguagem: Inglês
10.1159/000081057
ISSN1423-0208
AutoresJ.J. Zarranz, Antón Digón, Begoña Atarés, José M. Arteagoitia, Nieves Carrera, Iñaki Fernández-Manchola, Manuel Fernández Martínez, Covadonga Fernández-Maiztegui, I Forcadas, Luis Galdós, Agustín Ibáñez, Elena Lezcano, J.F. Martí-Massó, María M. Mendibe, Miguel Urtasun, J M Uterga, Nieves Saracíbar, Fernando Velasco, Luis González de Galdeano,
Tópico(s)Trace Elements in Health
ResumoIn 1995, a surveillance system for prion diseases was set up in the Basque Country, an autonomous region in northern Spain (2.1 million inhabitants). In the period from January 1993 to December 2003, we diagnosed 21 patients with familial prion diseases prospectively and another 4 patients retrospectively. They represent 35% of all the cases referred to the epidemiological registry. Two main possible explanations for this unusual high incidence of familial prion diseases are proposed: first, comprehensive case ascertainment by public health neurologists; second, a probable cluster of the D178N mutation within families of Basque origin related to a still unconfirmed common ancestor. Further genetic and genealogical studies should resolve this issue.
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