Estudio Genealógico del Insomnio Familiar Letal en el País Vasco

1. Rodríguez Martínez, Ana B.
2. Zarranz Imirizaldu, Juan José
3. Digón, Antón
4. Galdós, Luis
5. Martínez de Pancorbo Gómez, Marian

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Abstract

Fatal Familial Insomnia constitues an inherited form of prion disease caused by the D178N-129M mutation which shows an autosomal dominant pattern of inheritance. Previous research work of our group by means of microsatellite markers suggest a founder effect of the D178N-129M mutation in the Basque Country. Therefore, the aim of this work is to perform a genealogical study of FFI cases in order to look for the common ancestor in this region. The genealogical search allowed us to cluster the cases into two main pedigrees dated back to XVI and XVII centuries. The limiting factor related to the search within ancient documents has not lead us to find the common ancestor of the two pedigrees found.

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