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Updated: Mar 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
Ronald L Walton1, Alexandra I Soto-Ortolaza1, Melissa E Murray1
1Department of Neuroscience (R.L.W., A.I.S.-O., M.E.M., O.L.-B., K.O., S.R., R.R., N.E.-T., D.W.D., O.A.R., C.L.), Division of Biomedical Statistics and Informatics (M.G.H.), Department of Neurology (N.E.-T., R.J.U., J.A.v.G., Z.K.W., N.R.G.-R.), Department of Psychiatry and Psychology (T.J.F., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Biology (A.I.S.-O., O.A.R.), University of North Florida, Jacksonville; Department of Psychiatry and Psychology (G.E.S.), Department of Radiology (K.K., V.J.L., D.T.J.), Department of Laboratory Medicine and Pathology (J.E.P., B.F.B.), Department of Neurology (J.E.P., D.T.J., R.S., J.G.-R., D.S.K., R.C.P.), Mayo Clinic, Rochester, MN; Department of Clinical and Health Psychology (G.E.S.), University of Florida, Gainesville; and Mayo Graduate School (T.J.F., O.A.R.), Neurobiology of Disease, Jacksonville, FL.
Abstract:
Dementia with Lewy bodies (DLB) is the second leading cause of neurodegenerative dementia in the elderly and is clinically characterized by the presence of cognitive decline, parkinsonism, REM sleep behavior disorder, and visual hallucinations.(1,2) At autopsy, α-synuclein-positive Lewy-related pathology is observed throughout the brain. Concomitant Alzheimer disease-related pathology including amyloid plaques and, to a lesser degree, neurofibrillary tangles are often present.(2) The clinical characteristics of DLB share overlapping features with Alzheimer disease dementia (AD) and Parkinson disease (PD). A recent genetic association study examining known hits from PD and AD identified variants at both the α-synuclein (SNCA) and APOE loci as influencing the individual risk to DLB.(3) These findings would suggest that DLB may be a distinct disease with shared genetic risk factors with PD and AD.
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