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Article

Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.

Journal of Alzheimer's disease : JAD - 1 Jan 2010

Gómez-Tortosa Estrella, Barquero Sagrario, Barón Manuel, Gil-Neciga Eulogio, Castellanos Fernando, Zurdo Martín, Manzano Sagrario, Muñoz David G, Jiménez-Huete Adolfo, Rábano Alberto, Sainz M José, Guerrero Rosa, Gobernado Isabel, Pérez-Pérez Julián, Jiménez-Escrig Adriano

Abstract excerpt

We describe the clinical phenotype of nine kindred with presenile Alzheimer's disease (AD) caused by different presenilin 1 (PS1) point mutations, and compare them with reported families with mutations in the same codons. Mutations were in exon 4 (Phe105Val), exon 5 (Pro117Arg, Glu120Gly), exon 6 (His163Arg), exon 7 (Leu226Phe), exon 8 (Val261Leu, Val272Ala, Leu282Arg), and exon 12 (Ile439Ser). Three of these...

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PMID: 20157243
DOI: 10.3233/JAD-2010-1292

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