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000283105 245__ $$aAssociation between basal forebrain volume and age in the presenilin-1 E280A autosomal dominant Alzheimer's disease kindred.
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000283105 520__ $$aThe 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.
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000283105 650_7 $$2Other$$aautosomal dominant Alzheimer's disease
000283105 650_7 $$2Other$$abasal forebrain
000283105 650_7 $$2Other$$abrain volume
000283105 650_7 $$2Other$$amemory
000283105 650_7 $$2Other$$apresenilin 1
000283105 650_7 $$2NLM Chemicals$$aPresenilin-1
000283105 650_7 $$2NLM Chemicals$$aPSEN1 protein, human
000283105 650_2 $$2MeSH$$aHumans
000283105 650_2 $$2MeSH$$aPresenilin-1: genetics
000283105 650_2 $$2MeSH$$aAlzheimer Disease: genetics
000283105 650_2 $$2MeSH$$aAlzheimer Disease: pathology
000283105 650_2 $$2MeSH$$aAlzheimer Disease: diagnostic imaging
000283105 650_2 $$2MeSH$$aMale
000283105 650_2 $$2MeSH$$aFemale
000283105 650_2 $$2MeSH$$aBasal Forebrain: pathology
000283105 650_2 $$2MeSH$$aBasal Forebrain: diagnostic imaging
000283105 650_2 $$2MeSH$$aMagnetic Resonance Imaging
000283105 650_2 $$2MeSH$$aMiddle Aged
000283105 650_2 $$2MeSH$$aAdult
000283105 650_2 $$2MeSH$$aNeuropsychological Tests
000283105 650_2 $$2MeSH$$aAged
000283105 650_2 $$2MeSH$$aCognitive Dysfunction: pathology
000283105 650_2 $$2MeSH$$aCognitive Dysfunction: genetics
000283105 650_2 $$2MeSH$$aColombia
000283105 7001_ $$aOspina Lopera, Paula$$b1
000283105 7001_ $$aEspinosa, Alejandro$$b2
000283105 7001_ $$aBecerra, Juan Camilo$$b3
000283105 7001_ $$aOsorio, Laura$$b4
000283105 7001_ $$aAlzate, Diana$$b5
000283105 7001_ $$aAlvarez, Sergio$$b6
000283105 7001_ $$0P:(DE-2719)9001307$$aGrazia, Alice$$b7$$udzne
000283105 7001_ $$0P:(DE-2719)2000026$$aTeipel, Stefan J$$b8$$udzne
000283105 7001_ $$aMalotaux, Vincent$$b9
000283105 7001_ $$aTristão-Pereira, Catarina$$b10
000283105 7001_ $$aRowe, Meredith C$$b11
000283105 7001_ $$aGiudicessi, Averi$$b12
000283105 7001_ $$aSu, Yi$$b13
000283105 7001_ $$aChen, Yinghua$$b14
000283105 7001_ $$aDo Carmo, Sonia$$b15
000283105 7001_ $$aAguillón, David$$b16
000283105 7001_ $$aCuello, A Claudio$$b17
000283105 7001_ $$aQuiroz, Yakeel T$$b18
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