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)
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National Institute on Aging
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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 :
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
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 :
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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
Guven, Gamze; Lohmann, Ebba; Bras, Jose et al. (2016) Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PLoS One 11:e0162592
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