TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease

Conclusions:
Our results suggest that the TREM2 p.R47H substitution is a risk factor for frontotemporal dementia and Parkinson's disease in addition to Alzheimer's disease. These findings suggest a more general role for TREM2 dysfunction in neurodegeneration, which could be related to its role in the immune response.

Source: Molecular Neurodegeneration - June 21, 2013 Category: Neurology Authors: Sruti RayaproluBianca MullenMatt BakerTimothy LynchElizabeth FingerWilliam SeeleyKimmo HatanpaaCatherine Lomen-HoerthAndrew KerteszEileen BigioCarol LippaKeith JosephsDavid KnopmanCharles WhiteRichard CaselliIan MackenzieBruce MillerMagdalena Boczarska-Je Source Type: research