Article ; Online: Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of
2023 Volume 60, Issue 9, Page(s) 894–904
Abstract: ... of neuroinflammatory processes in neurodegeneration. To date, the p.H157Y variant of : Methods: To determine ... if the p.H157Y variant might be associated with a specific FTD presentation, we compared in each study ...
Abstract | Background: The triggering receptor expressed on myeloid cell 2 (TREM2) is a major regulator of neuroinflammatory processes in neurodegeneration. To date, the p.H157Y variant of Methods: To determine if the p.H157Y variant might be associated with a specific FTD presentation, we compared in each study the cases with age-matched, sex-matched and education-matched groups-a healthy control group (HC) and a group with FTD with neither Results: The two Colombian cases presented with early behavioural changes, greater impairments in general cognition and executive function compared with both HC and Ng-FTD groups. These patients also exhibited brain atrophy in areas characteristic of FTD. Furthermore, TREM2 cases showed increased atrophy compared with Ng-FTD in frontal, temporal, parietal, precuneus, basal ganglia, parahippocampal/hippocampal and cerebellar regions. The Mexican case presented with FTD and motor neuron disease (MND), showing grey matter reduction in basal ganglia and thalamus, and extensive TDP-43 type B pathology. Conclusion: In all TREM2 cases, multiple atrophy peaks overlapped with the maximum peaks of |
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MeSH term(s) | Humans ; Frontotemporal Dementia/genetics ; Frontotemporal Dementia/pathology ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Brain/diagnostic imaging ; Brain/pathology ; Atrophy ; Membrane Glycoproteins/genetics ; Receptors, Immunologic/genetics |
Chemical Substances | TREM2 protein, human ; Membrane Glycoproteins ; Receptors, Immunologic |
Language | English |
Publishing date | 2023-02-22 |
Publishing country | England |
Document type | Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't |
ZDB-ID | 220881-7 |
ISSN | 1468-6244 ; 0022-2593 |
ISSN (online) | 1468-6244 |
ISSN | 0022-2593 |
DOI | 10.1136/jmg-2022-108627 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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