Abstract

During this year we have found several families with progranulin mutations and now have papers published and in press on this in collaboration with a group in Toronto and with investigators from the NINDS intramural program. In addition we have identified novel tau mutations which effect exon 10 splicing of tau. Finally, we have used autozygosity mapping to identify novel recessive loci associated with young-onset forms of dementia, this work is being extended in order to both increase confidence in, and further refine, these loci.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Intramural Research (Z01)
Project #
1Z01AG000951-06
Application #
7592080
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
6
Fiscal Year
2007
Total Cost
$485,912
Indirect Cost

  Institution

Name
National Institute on Aging
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Guerreiro, Rita; Ross, Owen A; Kun-Rodrigues, Celia et al. (2018) Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. Lancet Neurol 17:64-74
Kun-Rodrigues, Celia; Ross, Owen A; Orme, Tatiana et al. (2017) Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiol Aging 49:214.e13-214.e15
Guerreiro, Rita; Escott-Price, Valentina; Darwent, Lee et al. (2016) Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiol Aging 38:214.e7-214.e10
Sassi, Celeste; Capozzo, Rosa; Gibbs, Raphael et al. (2016) A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy. J Alzheimers Dis 53:475-85
Tranah, Gregory J; Yokoyama, Jennifer S; Katzman, Shana M et al. (2014) Mitochondrial DNA sequence associations with dementia and amyloid-? in elderly African Americans. Neurobiol Aging 35:442.e1-8
Federoff, Monica; Jimenez-Rolando, Belen; Nalls, Michael A et al. (2012) A large study reveals no association between APOE and Parkinson's disease. Neurobiol Dis 46:389-92
Tranah, Gregory J; Nalls, Michael A; Katzman, Shana M et al. (2012) Mitochondrial DNA sequence variation associated with dementia and cognitive function in the elderly. J Alzheimers Dis 32:357-72
Pearson, Justin P; Williams, Nigel M; Majounie, Elisa et al. (2011) Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol 258:647-55
Guerreiro, Rita Joao; Baquero, Miquel; Blesa, Rafael et al. (2010) Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging 31:725-31
Guerreiro, Rita J; Washecka, Nicole; Hardy, John et al. (2010) A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat 31:E1126-40

Showing the most recent 10 out of 48 publications