Abstract

This project aims to develop a diagnostic center for Alzheimer disease (AD) and to ascertain families with a proband with AD to serve as a resource for genetic linkage studies in collaboration with the NIMH.
We aim to: 1) develop a diagnostic protocol for the assessment of families with familial Alzheimer's disease. 2) determine the appropriate small family configurations for future linkage studies. 3) collect 133 families, ascertained through a proband with Alzheimer's disease with one or more sibs who have been examined and classified as probable Alzheimer's disease by NINCDS-ADRBA criteria. 4) develop a protocol for the collection of blood samples from these families to allow the establishment of permanent lymphoblastoid cell lines.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Mental Health (NIMH)
Type
Research Project--Cooperative Agreements (U01)
Project #
5U01MH046290-05
Application #
3553924
Study Section
Special Emphasis Panel (SRCM (10))
Project Start
1989-09-30
Project End
1994-08-31
Budget Start
1993-09-30
Budget End
1994-08-31
Support Year
5
Fiscal Year
1993
Total Cost
Indirect Cost

  Institution

Name
Johns Hopkins University
Department
Type
Schools of Medicine
DUNS #
045911138
City
Baltimore
State
MD
Country
United States
Zip Code
21218

  Publications

Saad, M; Brkanac, Z; Wijsman, E M (2015) Family-based genome scan for age at onset of late-onset Alzheimer's disease in whole exome sequencing data. Genes Brain Behav 14:607-17
Hooli, Basavaraj V; Parrado, Antonio R; Mullin, Kristina et al. (2014) The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk. Neurology 83:1353-8
Hooli, B V; Mohapatra, G; Mattheisen, M et al. (2012) Role of common and rare APP DNA sequence variants in Alzheimer disease. Neurology 78:1250-7
Choi, Yoonha; Marchani, Elizabeth E; Bird, Thomas D et al. (2011) Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity. Am J Med Genet B Neuropsychiatr Genet 156B:785-98
Blom, Elin S; Giedraitis, Vilmantas; Arepalli, Sampath et al. (2009) Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs. BMC Med Genet 10:122
Blom, Elin S; Holmans, Peter; Arepalli, Sampath et al. (2008) Does APOE explain the linkage of Alzheimer's disease to chromosome 19q13? Am J Med Genet B Neuropsychiatr Genet 147B:778-83
Dickson, M Ryan; Li, Jian; Wiener, Howard W et al. (2008) A genomic scan for age at onset of Alzheimer's disease in 437 families from the NIMH Genetic Initiative. Am J Med Genet B Neuropsychiatr Genet 147B:784-92
Profenno, Louis A; Faraone, Stephen V (2008) Diabetes and overweight associate with non-APOE4 genotype in an Alzheimer's disease population. Am J Med Genet B Neuropsychiatr Genet 147B:822-9
De Ferrari, Giancarlo V; Papassotiropoulos, Andreas; Biechele, Travis et al. (2007) Common genetic variation within the low-density lipoprotein receptor-related protein 6 and late-onset Alzheimer's disease. Proc Natl Acad Sci U S A 104:9434-9
Kaleem, M; Zhao, A; Hamshere, M et al. (2007) Identification of a novel valosin-containing protein polymorphism in late-onset Alzheimer's disease. Neurodegener Dis 4:376-81

Showing the most recent 10 out of 37 publications