TREM2 p.R47H substitution is not associated with dementia with Lewy bodies.

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.

• Authors: Ronald L Walton, Alexandra I Soto-Ortolaza, Melissa E Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J Uitti, Jay A van Gerpen, Zbigniew K Wszolek, Glenn E Smith, Kejal Kantarci, Val J Lowe, Joseph E Parisi, David T Jones, Rodolfo Savica, Jonathan Graff-Radford, David S Knopman, Ronald C Petersen, Neill R Graff-Radford, Tanis J Ferman, Dennis W Dickson, Bradley F Boeve, Owen A Ross, Catherine Labbé
• Journal: Neurology. Genetics (Neurol Genet) Vol. 2 Issue 4 Pg. e85 (Aug 2016) ISSN: 2376-7839 [Print] United States
• PMID: 27458607 (Publication Type: Journal Article)