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@INPROCEEDINGS{He:283147,
      author       = {He, Bing and Ospina, Paula and Espinosa, Alejandro and
                      Becerra-Mateus, Juan Camilo and Osorio, Laura and Alzate,
                      Diana and Alvarez, Sergio and Grazia, Alice and Teipel,
                      Stefan and Malotaux, Vincent and Tristão-Pereira, Catarina
                      and Rowe, Meredith and Giudicessi, Averi and Carmo, Sonia Do
                      and Niño, David Fernando Aguillón and Cuello, A. Claudio
                      and Quiroz, Yakeel T.},
      title        = {{E}arly changes in basal forebrain volume and cognitive
                      function in preclinical autosomal dominant {A}lzheimer's
                      disease},
      journal      = {Alzheimer's and dementia},
      volume       = {21},
      number       = {S2},
      issn         = {1552-5260},
      reportid     = {DZNE-2026-00043},
      pages        = {e105027},
      year         = {2025},
      abstract     = {Background: The basal forebrain (BF), home to cholinergic
                      neurons essential for attention and memory undergoes
                      structural changes in sporadic Alzheimer's Disease and in
                      at-risk individuals, contributing to cognitive decline. To
                      investigate whether BF volume is reduced in preclinical
                      autosomal-dominant Alzheimer's disease (ADAD), we studied
                      cognitively-unimpaired carriers of the PSEN1 E280A mutation
                      from the Colombian kindred, the largest ADAD cohort with a
                      single mutation, known for early cognitive decline (mild
                      cognitive impairment at age 44, dementia at 49). Age was
                      used as a proxy for disease progression to analyze BF volume
                      and its relationship with age and cognitive performance.
                      Method: This study included 127 cognitively-unimpaired
                      individuals from the PSEN1 Colombian kindred (60 carriers,
                      67 non-carriers; mean-age: 30.67 ± 6.65 years;
                      mean-education: 12.24 ± 3.06 years). Unimpaired status was
                      defined by Functional Assessment Staging (FAST) scores <2.
                      Participants underwent structural MRI and cognitive testing,
                      with BF volumes measured using a cholinergic nuclei map.
                      Cognition was assessed with the Mini-Mental State
                      Examination (MMSE) and the CERAD Word List Learning (WLL)
                      task. BF volume differences between groups were assessed
                      using a t-test, and partial Pearson correlations (adjusted
                      for sex, education, and intracranial volume) were used to
                      evaluate relationships between BF volume, age, and
                      cognition. Result: BF volumes did not differ significantly
                      between carriers (693.83 ± 68.3 mm3) and non-carriers
                      (694.00 ± 65.24 mm3) (p = 0.82). Age was negatively
                      correlated with BF volume in the overall sample (r = -0.41,
                      p = 2.7e-06), carriers (r = -0.41, p = 0.001), and
                      non-carriers (r = -0.44, p = 2.6e-04). However, BF volume
                      showed no significant correlation with MMSE or WLL in the
                      overall sample, carriers, or non-carriers. Conclusion: These
                      findings suggest that Alzheimer's-related volumetric changes
                      in the basal forebrain may not manifest during the early
                      preclinical stages of ADAD. This highlights the importance
                      of future studies incorporating longitudinal measures to
                      track BF changes over time, spanning the continuum from
                      preclinical to clinical stages. Such research could provide
                      critical insights into the temporal dynamics of BF
                      involvement and its potential as a marker for early
                      detection or therapeutic target in ADAD.},
      month         = {Jul},
      date          = {2025-07-27},
      organization  = {Alzheimer’s Association
                       International Conference, Toronto
                       (Canada), 27 Jul 2025 - 31 Jul 2025},
      cin          = {AG Teipel},
      ddc          = {610},
      cid          = {I:(DE-2719)1510100},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)1 / PUB:(DE-HGF)16},
      doi          = {10.1002/alz70856_105027},
      url          = {https://pub.dzne.de/record/283147},
}