| 001 | 270311 | ||
| 005 | 20250127091753.0 | ||
| 024 | 7 | _ | |a 10.1002/alz.13818 |2 doi |
| 024 | 7 | _ | |a pmid:38666355 |2 pmid |
| 024 | 7 | _ | |a pmc:PMC11180868 |2 pmc |
| 024 | 7 | _ | |a 1552-5260 |2 ISSN |
| 024 | 7 | _ | |a 1552-5279 |2 ISSN |
| 024 | 7 | _ | |a altmetric:163204413 |2 altmetric |
| 037 | _ | _ | |a DZNE-2024-00783 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Levin, Johannes |0 P:(DE-2719)2811659 |b 0 |e First author |
| 245 | _ | _ | |a α-Synuclein seed amplification assay detects Lewy body co-pathology in autosomal dominant Alzheimer's disease late in the disease course and dependent on Lewy pathology burden. |
| 260 | _ | _ | |a Hoboken, NJ |c 2024 |b Wiley |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1718718238_13422 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a Amyloid beta and tau pathology are the hallmarks of sporadic Alzheimer's disease (AD) and autosomal dominant AD (ADAD). However, Lewy body pathology (LBP) is found in ≈ 50% of AD and ADAD brains.Using an α-synuclein seed amplification assay (SAA) in cerebrospinal fluid (CSF) from asymptomatic (n = 26) and symptomatic (n = 27) ADAD mutation carriers, including 12 with known neuropathology, we investigated the timing of occurrence and prevalence of SAA positive reactivity in ADAD in vivo.No asymptomatic participant and only 11% (3/27) of the symptomatic patients tested SAA positive. Neuropathology revealed LBP in 10/12 cases, primarily affecting the amygdala or the olfactory areas. In the latter group, only the individual with diffuse LBP reaching the neocortex showed α-synuclein seeding activity in CSF in vivo.Results suggest that in ADAD LBP occurs later than AD pathology and often as amygdala- or olfactory-predominant LBP, for which CSF α-synuclein SAA has low sensitivity.Cerebrospinal fluid (CSF) real-time quaking-induced conversion (RT-QuIC) detects misfolded α-synuclein in ≈ 10% of symptomatic autosomal dominant Alzheimer's disease (ADAD) patients. CSF RT-QuIC does not detect α-synuclein seeding activity in asymptomatic mutation carriers. Lewy body pathology (LBP) in ADAD mainly occurs as olfactory only or amygdala-predominant variants. LBP develops late in the disease course in ADAD. CSF α-synuclein RT-QuIC has low sensitivity for focal, low-burden LBP. |
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| 536 | _ | _ | |a 352 - Disease Mechanisms (POF4-352) |0 G:(DE-HGF)POF4-352 |c POF4-352 |f POF IV |x 1 |
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| 650 | _ | 7 | |a alpha‐synuclein seed amplification assay |2 Other |
| 650 | _ | 7 | |a Dominantly Inherited Alzheimer Network |2 Other |
| 650 | _ | 7 | |a Lewy body pathology |2 Other |
| 650 | _ | 7 | |a alpha‐synuclein seed amplification assay |2 Other |
| 650 | _ | 7 | |a real‐time quaking‐induced conversion |2 Other |
| 650 | _ | 7 | |a alpha-Synuclein |2 NLM Chemicals |
| 650 | _ | 7 | |a Amyloid beta-Peptides |2 NLM Chemicals |
| 650 | _ | 7 | |a real‐time quaking‐induced conversion |2 Other |
| 650 | _ | 2 | |a Alzheimer Disease: diagnosis |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Alzheimer Disease: genetics |2 MeSH |
| 650 | _ | 2 | |a Alzheimer Disease: pathology |2 MeSH |
| 650 | _ | 2 | |a Alzheimer Disease: cerebrospinal fluid |2 MeSH |
| 650 | _ | 2 | |a alpha-Synuclein: cerebrospinal fluid |2 MeSH |
| 650 | _ | 2 | |a alpha-Synuclein: genetics |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Middle Aged |2 MeSH |
| 650 | _ | 2 | |a Lewy Bodies: pathology |2 MeSH |
| 650 | _ | 2 | |a Aged |2 MeSH |
| 650 | _ | 2 | |a Mutation |2 MeSH |
| 650 | _ | 2 | |a Brain: pathology |2 MeSH |
| 650 | _ | 2 | |a Amyloid beta-Peptides: cerebrospinal fluid |2 MeSH |
| 650 | _ | 2 | |a Amyloid beta-Peptides: metabolism |2 MeSH |
| 650 | _ | 2 | |a Disease Progression |2 MeSH |
| 693 | _ | _ | |0 EXP:(DE-2719)DIAN-20090101 |5 EXP:(DE-2719)DIAN-20090101 |e Longitudinal Study on Dominantly Inherited Alzheimer's Disease |x 0 |
| 700 | 1 | _ | |a Baiardi, Simone |b 1 |
| 700 | 1 | _ | |a Quadalti, Corinne |b 2 |
| 700 | 1 | _ | |a Rossi, Marcello |b 3 |
| 700 | 1 | _ | |a Mammana, Angela |b 4 |
| 700 | 1 | _ | |a Vöglein, Jonathan |0 P:(DE-2719)2811820 |b 5 |u dzne |
| 700 | 1 | _ | |a Bernhardt, Alexander |0 P:(DE-2719)9002620 |b 6 |u dzne |
| 700 | 1 | _ | |a Perrin, Richard J |b 7 |
| 700 | 1 | _ | |a Jucker, Mathias |0 P:(DE-2719)2000010 |b 8 |u dzne |
| 700 | 1 | _ | |a Preische, Oliver |0 P:(DE-2719)2811828 |b 9 |u dzne |
| 700 | 1 | _ | |a Hofmann, Anna |0 P:(DE-2719)2814244 |b 10 |u dzne |
| 700 | 1 | _ | |a Höglinger, Günter U |0 P:(DE-2719)2811373 |b 11 |u dzne |
| 700 | 1 | _ | |a Cairns, Nigel J |b 12 |
| 700 | 1 | _ | |a Franklin, Erin E |b 13 |
| 700 | 1 | _ | |a Chrem, Patricio |b 14 |
| 700 | 1 | _ | |a Cruchaga, Carlos |b 15 |
| 700 | 1 | _ | |a Berman, Sarah B |b 16 |
| 700 | 1 | _ | |a Chhatwal, Jasmeer P |b 17 |
| 700 | 1 | _ | |a Daniels, Alisha |b 18 |
| 700 | 1 | _ | |a Day, Gregory S |b 19 |
| 700 | 1 | _ | |a Ryan, Natalie S |b 20 |
| 700 | 1 | _ | |a Goate, Alison M |b 21 |
| 700 | 1 | _ | |a Gordon, Brian A |b 22 |
| 700 | 1 | _ | |a Huey, Edward D |b 23 |
| 700 | 1 | _ | |a Ibanez, Laura |b 24 |
| 700 | 1 | _ | |a Karch, Celeste M |b 25 |
| 700 | 1 | _ | |a Lee, Jae-Hong |0 P:(DE-HGF)0 |b 26 |
| 700 | 1 | _ | |a Llibre-Guerra, Jorge |b 27 |
| 700 | 1 | _ | |a Lopera, Francisco |b 28 |
| 700 | 1 | _ | |a Masters, Colin L |b 29 |
| 700 | 1 | _ | |a Morris, John C |b 30 |
| 700 | 1 | _ | |a Noble, James M |b 31 |
| 700 | 1 | _ | |a Renton, Alan E |b 32 |
| 700 | 1 | _ | |a Roh, Jee Hoon |b 33 |
| 700 | 1 | _ | |a Frosch, Matthew P |b 34 |
| 700 | 1 | _ | |a Keene, C Dirk |b 35 |
| 700 | 1 | _ | |a McLean, Catriona |b 36 |
| 700 | 1 | _ | |a Sanchez-Valle, Raquel |b 37 |
| 700 | 1 | _ | |a Schofield, Peter R |b 38 |
| 700 | 1 | _ | |a Supnet-Bell, Charlene |b 39 |
| 700 | 1 | _ | |a Xiong, Chengjie |b 40 |
| 700 | 1 | _ | |a Giese, Armin |b 41 |
| 700 | 1 | _ | |a Hansson, Oskar |b 42 |
| 700 | 1 | _ | |a Bateman, Randall J |b 43 |
| 700 | 1 | _ | |a McDade, Eric |b 44 |
| 700 | 1 | _ | |a Network, Dominantly Inherited Alzheimer |b 45 |e Collaboration Author |
| 700 | 1 | _ | |a Parchi, Piero |0 0000-0002-9444-9524 |b 46 |
| 773 | _ | _ | |a 10.1002/alz.13818 |g Vol. 20, no. 6, p. 4351 - 4365 |0 PERI:(DE-600)2201940-6 |n 6 |p 4351 - 4365 |t Alzheimer's and dementia |v 20 |y 2024 |x 1552-5260 |
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