We have used dense SNP based linkage mapping to identify novel loci associated with familial frontotemporal dementia. This work shows linkage overlapping an extant locus on chromosome 9 which we now is understand is also a risk locus for amyotrophic lateral sclerosis. This positional cloning effort is being lead by Dr. Traynor's group (separate report) and this locus has int he last year been discovered by our laboratory. Our ongoing work on dementia with Lewy bodies and Parkinson's disease with dementia primarily focuses on analysis of loci identified in our genome wide association studies in Alzheimer's disease and Parkinson's disease to see if we can tease out the genetic basis of dementia in these disorders which neuropathologically sit between Alzheimer's and Parkinson's disease. We are in the process of publishing the results of our GWAS in FTD which shows two replicated risk loci for this disorder.

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIAAG000951-12
Application #
8736665
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
12
Fiscal Year
2013
Total Cost
$370,119
Indirect Cost
Name
National Institute on Aging
Department
Type
DUNS #
City
State
Country
Zip Code
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.e7-10
Federoff, M; Price, T R; Sailer, A et al. (2016) Genome-wide estimate of the heritability of Multiple System Atrophy. Parkinsonism Relat Disord 22:35-41
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
Geiger, Joshua T; Ding, Jinhui; Crain, Barbara et al. (2016) Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies. Neurobiol Dis 94:55-62
Ferrari, Raffaele; Grassi, Mario; Salvi, Erika et al. (2015) A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. Neurobiol Aging 36:2904.e13-26
Ghani, Mahdi; Lang, Anthony E; Zinman, Lorne et al. (2015) Mutation analysis of patients with neurodegenerative disorders using NeuroX array. Neurobiol Aging 36:545.e9-14
(2015) Common genetic variants influence human subcortical brain structures. Nature 520:224-9
Peuralinna, Terhi; Myllykangas, Liisa; Oinas, Minna et al. (2015) Genome-wide association study of neocortical Lewy-related pathology. Ann Clin Transl Neurol 2:920-31
Kara, Eleanna; Kiely, Aoife P; Proukakis, Christos et al. (2014) A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. JAMA Neurol 71:1162-71
Ferrari, Raffaele; Hernandez, Dena G; Nalls, Michael A et al. (2014) Frontotemporal dementia and its subtypes: a genome-wide association study. Lancet Neurol 13:686-99

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