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.

National Institute of Health (NIH)
National Institute on Aging (NIA)
Investigator-Initiated Intramural Research Projects (ZIA)
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National Institute on Aging
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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
Kara, Eleanna; Kiely, Aoife P; Proukakis, Christos et al. (2014) A 6.4 Mb duplication of the ?-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. JAMA Neurol 71:1162-71
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
Guerreiro, Rita J; Vaskov, Tina; Crews, Cynthia et al. (2009) A case of dementia with PRNP D178Ncis-129M and no insomnia. Alzheimer Dis Assoc Disord 23:415-7
Peuralinna, Terhi; Oinas, Minna; Polvikoski, Tuomo et al. (2008) Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein. Ann Neurol 64:348-52