Presenilin‐1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage

INTRODUCTION Amyloidosis, including cerebral amyloid angiopathy, and markers of small vessel disease (SVD) vary across dominantly inherited Alzheimer's disease (DIAD) presenilin‐1 (PSEN1) mutation carriers. We investigated how mutation position relative to codon 200 (pre‐/postcodon 200) influen...

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Veröffentlicht in:	Alzheimer's & dementia 2024-04, Vol.20 (4), p.2680-2697
Hauptverfasser:	Joseph‐Mathurin, Nelly, Feldman, Rebecca L., Lu, Ruijin, Shirzadi, Zahra, Toomer, Carmen, Saint Clair, Junie R., Ma, Yinjiao, McKay, Nicole S., Strain, Jeremy F., Kilgore, Collin, Friedrichsen, Karl A., Chen, Charles D., Gordon, Brian A., Chen, Gengsheng, Hornbeck, Russ C., Massoumzadeh, Parinaz, McCullough, Austin A., Wang, Qing, Li, Yan, Wang, Guoqiao, Keefe, Sarah J., Schultz, Stephanie A., Cruchaga, Carlos, Preboske, Gregory M., Jack, Clifford R., Llibre‐Guerra, Jorge J., Allegri, Ricardo F., Ances, Beau M., Berman, Sarah B., Brooks, William S., Cash, David M., Day, Gregory S., Fox, Nick C., Fulham, Michael, Ghetti, Bernardino, Johnson, Keith A., Jucker, Mathias, Klunk, William E., Fougère, Christian, Levin, Johannes, Niimi, Yoshiki, Oh, Hwamee, Perrin, Richard J., Reischl, Gerald, Ringman, John M., Saykin, Andrew J., Schofield, Peter R., Su, Yi, Supnet‐Bell, Charlene, Vöglein, Jonathan, Yakushev, Igor, Brickman, Adam M., Morris, John C., McDade, Eric, Xiong, Chengjie, Bateman, Randall J., Chhatwal, Jasmeer P., Benzinger, Tammie L. S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Alzheimer Disease - diagnostic imaging Alzheimer Disease - genetics Alzheimer Disease - pathology Alzheimer's disease Amyloidosis Asymptomatic autosomal dominant Alzheimer's disease (ADAD) Blood pressure Carriers cerebral amyloid angiopathy (CAA) Cerebral Small Vessel Diseases - complications Cerebral Small Vessel Diseases - diagnostic imaging Cerebral Small Vessel Diseases - genetics Clinical assessment Clinical research Clinical trials codon 200 Cognition Dementia Diffusion Tensor Imaging dominantly inherited Alzheimer's disease (DIAD) Genes Genotype & phenotype Humans Influence Magnetic Resonance Imaging Medical imaging Medical prognosis Metabolism microbleeds microhemorrhages Mutation Mutation - genetics Neuroimaging Neuropathology peak width of skeletonized mean diffusivity (PSMD) PiB‐PET Positron emission tomography Presenilin-1 - genetics presenilin‐1 PSEN1 Review boards small vessel disease (SVD) Tomography Topography Uptake white matter hyperintensity (WMH)
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