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. 2013;37(2):285-9.
doi: 10.3233/JAD-130119.

Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation

Livia Bernardi  1 , Maura Gallo, Maria Anfossi, Maria Elena Conidi, Rosanna Colao, Gianfranco Puccio, Sabrina A M Curcio, Francesca Frangipane, Alessandra Clodomiro, Maria Mirabelli, Franca Vasso, Nicoletta Smirne, Raffaele Di Lorenzo, Raffaele Maletta, Amalia C Bruni
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Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation

Livia Bernardi et al. J Alzheimers Dis. 2013.

Abstract

We investigated the association between TOMM40 rs10524523, age of onset, and memory performance in patients with the PSEN1 M146L mutation in a large familial Alzheimer's disease Calabrian kindred, with a wide variability of onset not attributable to APOE. APOE33/TOMM40VL/VL patients showed a tendency for an earlier age at onset compared to those with APOE33/TOMM40VL/S and APOE33/TOMM40S/S. Moreover, TOMM40VL/VL patients had better memory performance, when compared to TOMM40S/S but not to TOMM40VL/S patients, so there is not a dose-dependent effect. Our results suggest that, in the presence of the PSEN1 mutation, the slight difference in age of onset together with memory performance could be influenced by TOMM40 genotypes.

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