Comparison between clinical-pathological phenotype between dominantly-inherited
  
   Lead Investigator:    Catherine Roe
   Institution      :    Washington University School of Medicine
   E-Mail           :    cathyr@wustl.edu
   Proposal ID      :    498


   Publications:


1  Day G, Musiek E, Roe C, Norton J, Goate A, Cruchaga C, Morris J
   The clinical phenotype of late-onset autosomal dominant Alzheimer disease due to a PSEN1 mutation resembles sporadic Alzheimer disease: A single-family case-control study
   Abstract  Neurology,86:Supplement P2.2,2016,

   PUBLISHED



2  Day GS, Musiek ES, Roe CM, Norton J, Goate AM, Cruchaga C, Cairns NJ, Morris JC
   Phenotypic Similarities Between Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease: A Single-Family Case-Control Study
   Abstract  Alzheimers Dement,12:P698-P699,2016,

   PUBLISHED



3  Day GS, Musiek ES, Roe CM, Norton J, Goate AM, Cruchaga C, Cairns NJ, Morris JC
   Phenotypic Similarities Between Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease: A Single-Family Case-Control Study
   Journal Article  JAMA Neurol,73:1125-1132,2016,PMC5025942

   PUBLISHED





   Proposal Description:
   Recently, a family with late-onset dominantly-inherited Alzheimer disease (AD) due to a presenillin 1 (A79V) mutation was described at our ADRC. Demonstration of overlap between cases with late-onset AD attributable to                       dominantly-inherited mutations and patients with sporadic disease would provide further evidence that disruptions in amyloid homeostasis may account for disease features in both dominantly-inherited and sporadic AD. With this in mind, we prospectively examined the clinical and pathological characteristics of mutation-carriers within this affected family. These features will be compared against those observed in a large population of participants presenting with late-onset sporadic AD (NACC-UDS).                                                                                                                  Aim 1.  To characterize the clinical and pathological phenotype of AD in a        defined group of PSEN1 A79V carriers.                                                                                                                               Aim 2.  To compare the clinicopathologic characteristics of individuals with      this late-onset variant of familial autosomal-dominant AD with individuals with sporadic late-onset AD.