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;further this work has been extended to analyze the effects of genetic risk loci for dementia/parkinson's disease on neuropathology. We continue on working on an analysis to dissect the differences in MAPT risk haplotypes between this disease and Parkinson's disease.

National Institute of Health (NIH)
National Institute on Aging (NIA)
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
Application #
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
National Institute on Aging
Zip Code
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
Burciu, Roxana G; Seidler, Rachael D; Shukla, Priyank et al. (2018) Multimodal neuroimaging and behavioral assessment of ?-synuclein polymorphism rs356219 in older adults. Neurobiol Aging 66:32-39
Darwent, Lee; Carmona, Susana; Lohmann, Ebba et al. (2017) Mutations in TYROBP are not a common cause of dementia in a Turkish cohort. Neurobiol Aging 58:240.e1-240.e3
Capozzo, Rosa; Sassi, Celeste; Hammer, Monia B et al. (2017) Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy. Alzheimers Dement 13:858-869
Siitonen, Maija; Börjesson-Hanson, Anne; Pöyhönen, Minna et al. (2017) Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1. Brain :
Ferrari, Raffaele; Grassi, Mario; Graziano, Francesca et al. (2017) Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia. J Alzheimers Dis 56:1271-1278
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
McKeith, Ian G; Boeve, Bradley F; Dickson, Dennis W et al. (2017) Diagnosis and management of dementia with Lewy bodies: Fourth consensus report of the DLB Consortium. Neurology 89:88-100
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
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

Showing the most recent 10 out of 41 publications