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@ARTICLE{He:283105,
      author       = {He, Bing and Ospina Lopera, Paula and Espinosa, Alejandro
                      and Becerra, Juan Camilo and Osorio, Laura and Alzate, Diana
                      and Alvarez, Sergio and Grazia, Alice and Teipel, Stefan J
                      and Malotaux, Vincent and Tristão-Pereira, Catarina and
                      Rowe, Meredith C and Giudicessi, Averi and Su, Yi and Chen,
                      Yinghua and Do Carmo, Sonia and Aguillón, David and Cuello,
                      A Claudio and Quiroz, Yakeel T},
      title        = {{A}ssociation between basal forebrain volume and age in the
                      presenilin-1 {E}280{A} autosomal dominant {A}lzheimer's
                      disease kindred.},
      journal      = {Alzheimer's and dementia},
      volume       = {22},
      number       = {1},
      issn         = {1552-5260},
      address      = {Hoboken, NJ},
      publisher    = {Wiley},
      reportid     = {DZNE-2026-00001},
      pages        = {e71052},
      year         = {2026},
      abstract     = {The basal forebrain (BF), a key cholinergic hub, undergoes
                      atrophy in Alzheimer's disease (AD), contributing to
                      cognitive decline. However, its age-related differences and
                      early vulnerability in autosomal dominant AD (ADAD) remain
                      unclear.We studied 158 individuals from the Colombian
                      Presenilin-1 (PSEN1) E280A kindred, including 80 carriers
                      (60 cognitively unimpaired, 20 cognitively impaired).
                      Participants underwent structural magnetic resonance
                      imaging, blood sampling, and neuropsychological testing.
                      Analysis of covariance and false discovery rate-corrected t
                      tests assessed group differences. Correlations evaluated
                      associations among BF volume, age, and cognitive scores.
                      Hamiltonian Markov chain Monte Carlo modeling estimated the
                      age at which BF volume diverged between carriers and
                      non-carriers.BF volume was comparable between cognitively
                      unimpaired carriers and non-carriers but declined more
                      rapidly in carriers, with divergence at ≈ 37.8 years, 6
                      years prior to the median age at onset of mild cognitive
                      impairment.BF volume changes precede the onset of clinical
                      symptoms in ADAD, supporting its potential as an early
                      biomarker of cholinergic degeneration and therapeutic
                      target.There were not basal forebrain (BF) volume
                      differences between PSEN1 E280A unimpaired carriers and
                      non-carriers. Age-related modeling revealed a faster BF
                      volume decline in carriers vs non-carriers. Age-related
                      differences first emerged at 37.8 years, about 6 years
                      before clinical onset. BF volume was related to age,
                      cognition, and plasma phosphorylated tau 217 levels. BF
                      changes may be early indicators of Alzheimer's
                      disease-related neurodegeneration.},
      keywords     = {Humans / Presenilin-1: genetics / Alzheimer Disease:
                      genetics / Alzheimer Disease: pathology / Alzheimer Disease:
                      diagnostic imaging / Male / Female / Basal Forebrain:
                      pathology / Basal Forebrain: diagnostic imaging / Magnetic
                      Resonance Imaging / Middle Aged / Adult / Neuropsychological
                      Tests / Aged / Cognitive Dysfunction: pathology / Cognitive
                      Dysfunction: genetics / Colombia / autosomal dominant
                      Alzheimer's disease (Other) / basal forebrain (Other) /
                      brain volume (Other) / memory (Other) / presenilin 1 (Other)
                      / Presenilin-1 (NLM Chemicals) / PSEN1 protein, human (NLM
                      Chemicals)},
      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)16},
      pubmed       = {pmid:41476026},
      doi          = {10.1002/alz.71052},
      url          = {https://pub.dzne.de/record/283105},
}