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.
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 |
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 |
Wavrant-De Vrieze, Fabienne; Compton, Danielle; Womick, Meridith et al. (2007) ABCA1 polymorphisms and Alzheimer's disease. Neurosci Lett 416:180-3 |
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