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Misfolded α-Synuclein in Autosomal Dominant Alzheimer's Disease.

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We analyzed Lewy body (LB) pathology in 18 autosomal dominant Alzheimer's disease (ADAD) brains via immunohistochemistry. Real-time quaking induced conversion was used to detect misfolded α-synuclein (α-syn) in 18 living ADAD cerebrospinal fluid (CSF) samples. Concomitant LB pathology was present in 44% ADAD brains. Only 6% CSF samples were positive for misfolded α-syn. In an additional AD sample, all patients with confirmed LB presented misfolded α-syn in postmortem CSF regardless of the LB staging. In conclusion, misfolded α-syn in CSF was scarce in symptomatic living ADAD individuals, in contrast to postmortem brain tissue. These results suggest late appearance of LB pathology in ADAD.

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FORT AZNAR, Laura, MOLINA PORCEL, Laura, RAMOS CAMPOY, Oscar, ESTELLER GAUXAX, Diana, NARANJO, Laura, LLADÓ PLARRUMANÍ, Albert, BALASA, Mircea, RUIZ GARCÍA, Raquel, ANTONELL BOIXADER, Anna, SÁNCHEZ DEL VALLE DÍAZ, Raquel. Misfolded α-Synuclein in Autosomal Dominant Alzheimer's Disease.. _Journal of Alzheimers Disease_. 2024. [consulta: 24 de gener de 2026]. ISSN: 1387-2877. [Disponible a: https://hdl.handle.net/2445/210362]

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