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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

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dc.contributor.author Levin, Johannes
dc.contributor.author Baiardi, Simone
dc.contributor.author Quadalti, Corinne
dc.contributor.author Rossi, Marcello
dc.contributor.author Mammana, Angela
dc.contributor.author Vöglein, Jonathan
dc.contributor.author Bernhardt, Alexander
dc.contributor.author Perrin, Richard J.
dc.contributor.author Jucker, Mathias
dc.contributor.author Preische, Oliver
dc.contributor.author Hofmann, Anna
dc.contributor.author Höglinger, Günter U.
dc.contributor.author Cairns, Nigel
dc.contributor.author Franklin, Erin E.
dc.contributor.author Chrem Méndez, Patricio Alexis
dc.contributor.author Dominantly Inherited Alzheimer Network
dc.date.accessioned 2024-05-06T11:28:47Z
dc.date.available 2024-05-06T11:28:47Z
dc.date.issued 2024-04-26
dc.identifier.citation Levin J, Baiardi S, Quadalti C, Rossi M, Mammana A, Vöglein J, Bernhardt A, Perrin RJ, Jucker M, Preische O, Hofmann A, Höglinger GU, Cairns NJ, Franklin EE, Chrem P, Cruchaga C, Berman SB, Chhatwal JP, Daniels A, Day GS, Ryan NS, Goate AM, Gordon BA, Huey ED, Ibanez L, Karch CM, Lee JH, Llibre-Guerra J, Lopera F, Masters CL, Morris JC, Noble JM, Renton AE, Roh JH, Frosch MP, Keene CD, McLean C, Sanchez-Valle R, Schofield PR, Supnet-Bell C, Xiong C, Giese A, Hansson O, Bateman RJ, McDade E; Dominantly Inherited Alzheimer Network; Parchi P. 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. Alzheimers Dement. 2024 Apr 26. doi: 10.1002/alz.13818. Epub ahead of print. es_ES
dc.identifier.uri https://doi.org/10.1002/alz.13818
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/1106
dc.description.abstract Introduction: 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. Methods: 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. Results: 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. Discussion: 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. Highlights: 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. es_ES
dc.language.iso eng es_ES
dc.publisher John Wiley & Sons es_ES
dc.rights info:eu-repo/semantics/openAccess
dc.subject Alzheimer Disease es_ES
dc.subject Enfermedad de Alzheimer es_ES
dc.subject alfa-Sinucleína es_ES
dc.subject alpha-Synuclein es_ES
dc.subject Mutación es_ES
dc.subject Mutation es_ES
dc.title 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 es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.type info:eu-repo/semantics/publishedVersion
dc.description.fil Fil: Chrem Méndez, Patricio Alexis. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina.
dc.relation.ispartofCOUNTRY Estados Unidos
dc.relation.ispartofCITY Hoboken
dc.relation.ispartofTITLE Alzheimer's & dementia : the journal of the Alzheimer's Association
dc.relation.ispartofISSN 1552-5279
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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