Genetic risk factors of primary age related tauopathy

 
   Lead Investigator:    Kyra Jefferson-George
   Institution      :    University of Pennsylvania
   E-Mail           :    kyraj@mail.med.upenn.edu
   Proposal ID      :    607


   Publications:


1  McMillan CT
   Biological Aging Contributions to Molecular Pahtology and Neurodegeneration
   43723   Grant  NIH/NIA   R01 AG066152   , 

   FUNDED



2  McMillan CT
   Resistance and Vulnerability for Alzheimer's and Related Pathologies
   43570   Grant  NIH/NIA   R56 AG058732   , 

   FUNDED



3  McMillan CT, Lee EB, Jefferson-George K, Naj A, Van Deerlin VM, Trojanowski JQ, Wolk DA
   Alzheimer's genetic risk is reduced in primary age-related tauopathy: a potential model of resistance?
   Journal Article  Ann Clin Transl Neurol,8:927-934,2018,PMC6093846

   PUBLISHED





   Proposal Description:
   Primary age related tauopathy (PART) is a recently defined neuropathologic        diagnosis describing individuals with neurofibrillary tangle deposition in the    absence of significant amyloidosis. We hypothesize that there are differences     in single nucleotide polymorphism (SNP) profiles associated with Alzheimer's      disease (AD) as compared to PART.  We will identify PART cases based on tau and   amyloid burden and compare their SNP profiles to those of neuropathologically     confirmed NACC AD cases for which GWAS data is available. This analysis may       reveal protective genetic factors against amyloid deposition or genetic risk      factors for tau pathology.