期刊
JOURNAL OF ALZHEIMERS DISEASE
卷 37, 期 2, 页码 285-289出版社
IOS PRESS
DOI: 10.3233/JAD-130119
关键词
Familial Alzheimer's disease; large kindreds; onset variability; performance on memory; PSEN1 M146L mutation; TOMM40 rs10524523 genotype
资金
- Italian Health Ministry: DGRST [4/2760-P/I.9.ab]
- Italian Health Ministry [RFPS-2006-7-334858, 2006. 230]
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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