Abstract

AbstractBackgroundWe previously reported that performance on the Latin American Spanish version of the Face‐Name Associative Memory Exam (LAS‐FNAME) differentiated between cognitively intact Presenilin1 (PSEN1) E280A mutation carriers from non‐carriers and that this performance was also associated with greater amyloid and tau burden in the entorhinal and inferior temporal cortices, when examining all carriers. Neurofilament light chain (NfL), a plasma‐based biomarker for neurodegeneration and a promising marker for early Alzheimer’s disease (AD) detection, is less invasive and expensive than PET imaging. Here, we examined whether levels of plasma NfL were associated with LAS‐FNAME performance in non‐demented PSEN1‐E280A carriers and non‐carriers.MethodsA total of 51 PSEN1‐E280A carriers (mean age = 30.06 +/‐ 4.63), including 2 Mild Cognitive Impaired carriers and 50 age‐matched non‐carriers (mean age = 35.55 +/‐ 6.16) from the Colombia‐Boston (COLBOS) remote study were included. Participants underwent blood sampling and neuropsychological assessment, including the MMSE and LAS‐FNAME. Plasma NfL concentrations were measured with a single molecule array (Simoa) method. Mann‐Whitney and Spearman correlations were used to examine group differences and the relationships between LAS‐FNAME performance and NfL levels.ResultsThere were no significant group differences in NfL levels or in the LAS‐FNAME Total Score, Immediate and Delayed Memory subscales (all p>0.05). However, mutation carriers (mean= 27.90) had lower MMSE scores than non‐carriers (mean= 28.47; p = 0.05). LAS‐FNAME Total Score was negatively associated with age (r=‐.37; p=0.007), and positively associated with MMSE scores (r=.54; p<0.001) in the carrier group. Among the entire sample, associations between NfL levels and age trended toward significance (p = 0.06). NfL levels were not associated with cognitive performance, including LAS‐FNAME or MMSE.ConclusionsPreliminary findings suggest that LAS‐FNAME may be a useful tool to track disease progression in those at increased risk for dementia. Further, our findings suggest that NfL levels may not be associated with performance on associate memory tasks, such as LAS‐FNAME, in prodromal stages of ADAD. Future work with a larger sample of carriers, across the preclinical/prodromal spectrum will allow for a more comprehensive examination of these associations.

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