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@ARTICLE{Levin:270311,
      author       = {Levin, Johannes and Baiardi, Simone and Quadalti, Corinne
                      and Rossi, Marcello and Mammana, Angela and Vöglein,
                      Jonathan and Bernhardt, Alexander and Perrin, Richard J and
                      Jucker, Mathias and Preische, Oliver and Hofmann, Anna and
                      Höglinger, Günter U and Cairns, Nigel J and Franklin, Erin
                      E and Chrem, Patricio and Cruchaga, Carlos and Berman, Sarah
                      B and Chhatwal, Jasmeer P and Daniels, Alisha and Day,
                      Gregory S and Ryan, Natalie S and Goate, Alison M and
                      Gordon, Brian A and Huey, Edward D and Ibanez, Laura and
                      Karch, Celeste M and Lee, Jae-Hong and Llibre-Guerra, Jorge
                      and Lopera, Francisco and Masters, Colin L and Morris, John
                      C and Noble, James M and Renton, Alan E and Roh, Jee Hoon
                      and Frosch, Matthew P and Keene, C Dirk and McLean, Catriona
                      and Sanchez-Valle, Raquel and Schofield, Peter R and
                      Supnet-Bell, Charlene and Xiong, Chengjie and Giese, Armin
                      and Hansson, Oskar and Bateman, Randall J and McDade, Eric
                      and Parchi, Piero},
      collaboration = {Network, Dominantly Inherited Alzheimer},
      title        = {α-{S}ynuclein seed amplification assay detects {L}ewy body
                      co-pathology in autosomal dominant {A}lzheimer's disease
                      late in the disease course and dependent on {L}ewy pathology
                      burden.},
      journal      = {Alzheimer's and dementia},
      volume       = {20},
      number       = {6},
      issn         = {1552-5260},
      address      = {Hoboken, NJ},
      publisher    = {Wiley},
      reportid     = {DZNE-2024-00783},
      pages        = {4351 - 4365},
      year         = {2024},
      abstract     = {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.},
      keywords     = {Alzheimer Disease: diagnosis / Humans / Alzheimer Disease:
                      genetics / Alzheimer Disease: pathology / Alzheimer Disease:
                      cerebrospinal fluid / alpha-Synuclein: cerebrospinal fluid /
                      alpha-Synuclein: genetics / Female / Male / Middle Aged /
                      Lewy Bodies: pathology / Aged / Mutation / Brain: pathology
                      / Amyloid beta-Peptides: cerebrospinal fluid / Amyloid
                      beta-Peptides: metabolism / Disease Progression /
                      alpha‐synuclein seed amplification assay (Other) /
                      Dominantly Inherited Alzheimer Network (Other) / Lewy body
                      pathology (Other) / alpha‐synuclein seed amplification
                      assay (Other) / real‐time quaking‐induced conversion
                      (Other) / alpha-Synuclein (NLM Chemicals) / Amyloid
                      beta-Peptides (NLM Chemicals) / real‐time
                      quaking‐induced conversion (Other)},
      cin          = {Clinical Research (Munich) / AG Jucker},
      ddc          = {610},
      cid          = {I:(DE-2719)1111015 / I:(DE-2719)1210001},
      pnm          = {353 - Clinical and Health Care Research (POF4-353) / 352 -
                      Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-353 / G:(DE-HGF)POF4-352},
      experiment   = {EXP:(DE-2719)DIAN-20090101},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:38666355},
      pmc          = {pmc:PMC11180868},
      doi          = {10.1002/alz.13818},
      url          = {https://pub.dzne.de/record/270311},
}