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Alzheimer's Association International Conference 2026

July 12-15, 2026 | London, United Kingdom, and Online

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3749

Imaging and Plasma Biomarker Profiles in REELIN-COLBOS Variant Cases

Poster Presenter

Catarina Tristγo-Pereira

Authors

Catarina Tristão-Pereira, Vincent Malotaux, Isabela Gonzalez, Claudia Munoz, Yesica Zuluaga, Diana Alzate, Yamile Bocanegra, Alejandro Guerrero, Daniel Vasquez, Lucia Madrigal, Lusiana Martinez, Bing He, Monica Vidal, Sergio Alvarez, David Aguillon, Joseph Arboleda-Velasquez, Yakeel T. Quiroz

Affiliations

Department of Psychological and Brain Sciences, Boston University, MA, USA, Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Colombia, Hospital Pablo Tobón Uribe, Colombia, Schepens Eye Research Institute of Mass Eye and Ear and Department of Ophthalmology, Harvard Medical School, MA, USA

Part of Topic

Introduction:

The RELNH3447R (RELN-COLBOS) is a rare genetic variant found in one man carrying the PSEN1E280A variant in the Colombian kindred of autosomal dominant Alzheimer’s disease (ADAD) (1)

•The RELN-COLBOS carrier showed 20-year delayed onset of clinical symptoms
•Despite high amyloid-β (Aβ) burden, tau pathology and glucose metabolism remained preserved
 
Objectives:

To perform a descriptive analysis of imaging and plasma biomarker profiles in the 12 heterozygous RELN-COLBOS carriers identified in the Colombian ADAD kindred, specifically:

1)Dual RELN-COLBOS/PSEN1E280A carriers compared to typical PSEN1E280A carriers across ADAD
2)RELN-COLBOS carriers compared to non-carriers across the healthy adult lifespan
 
Results:

Dual RELN-COLBOS/PSEN1E280A vs typical PSEN1E280A carriers (ADAD):

71M landmark case:

•High Aβ burden but limited tau pathology and neurodegeneration.
•Plasma biomarkers, including Aβ42/40, were higher than in typical PSEN1E280A carriers. 

41F case:

•Similar cognitive function and Aβ burden, but greater tau pathology compared to age-matched typical PSEN1E280A carriers.
•Plasma biomarkers were within the range.

RELN-COLBOS carriers vs non-carriers (adult lifespan):

•Cognitive function has a non-linear trajectory in RELN-COLBOS carriers.
•Brain metabolism and brain volume may be preserved in cognitively unimpaired cases.
•Plasma Aβ42/40 and NfL are within the expected age-related increase compared to non-carriers and to age-matched external cohorts, whereas plasma GFAP may trend toward lower levels in RELN-COLBOS-only carriers

Conclusions:

•Carriers of both RELN-COLBOS and PSEN1E280A variants show distinct phenotypes suggestive of differential, possibly sex-modulated, resilience to AD pathology
•RELN-COLBOS-only carriers exhibit relatively small age-related increases in GFAP, but overall protective effects on brain aging are unclear. Smaller-than-expected effects may be confounded by sex differences, considering 8 in 10 RELN-COLBOS carriers were female.
•Larger, longitudinal and age-matched studies are needed to elucidate the mechanisms through which RELN-COLBOS confers protection, in order to inform novel therapeutic avenues to enhance resilience against AD and promote healthy brain aging

The RELN-COLBOS variant may be protective against pathologic changes in ADAD but its effects on the disease-free adult lifespan remain unclear and may be modulated by sex.

 

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