Neurobiology of aging
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Neurobiology of aging · Nov 2014
Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes.
Frontotemporal dementia (FTD) is a clinically and genetically heterogeneous disorder. Rare TREM2 variants have been recently identified in families affected by FTD-like phenotype. However, genetic studies of the role of rare TREM2 variants in FTD have generated conflicting results possibly because of difficulties on diagnostic accuracy. ⋯ L211P may contribute to its pathogenic effect. The data also suggest that p. R47H is associated with an FTD phenotype that is characterized by the presence of underlying AD pathology.