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Principal Investigator  
Principal Investigator's Name: Lam-Ha Dang
Institution: Columbia University Irving Medical Center
Department: Neurology
Country:
Proposed Analysis: Neurofilament light chain (NfL), a cytoskeletal protein, is highly expressed on axons and is considered to be a marker of neuro-axonal damage. We and others have shown that NfL levels in plasma may be useful diagnostic and prognostic biomarkers of clinical dementia status in adults with Down Syndrome (DS) [Petersen et al. & ABC-DS (2021) doi: 10.3233/JAD-201167] Adults with DS are at high risk of developing Alzheimer’s Disease (AD), which can be attributed partially to the triplication and overexpression of APP on Chromosome 21. Given this high risk of AD, NfL may serve as a specific marker of AD-related neurodegeneration within this high-risk population. We further hypothesize that levels of NfL in plasma are influenced by genetic risk variants, which may eventually impact the risk for AD. Our genome-wide scan of two different cohorts of adults with DS have identified a set of promising loci. To confirm and to extend our finding from adults with DS to the general population, we request access to ADNI data to determine whether our findings in DS are supported by and are generalizable in an independent, non-DS cohort. Planned analyses include: assessing the association of candidate variants/genes with plasma NFL levels; assessing the association of genotype of the most promising variants with other AD-related phenotypes, such as: plasma/CSF levels of AD biomarkers (e.g., Ab-42, Ab-40, tau), clinical outcomes (e.g., dementia status, age-at-onset of AD), and neuropsychological measures (e.g., memory scores).
Additional Investigators  
Investigator's Name: Joseph H. Lee
Proposed Analysis: Neurofilament light chain (NfL), a cytoskeletal protein, is highly expressed on axons and is considered to be a marker of neuro-axonal damage. We and others have shown that NfL levels in plasma may be useful diagnostic and prognostic biomarkers of clinical dementia status in adults with Down Syndrome (DS) [Petersen et al. & ABC-DS (2021) doi: 10.3233/JAD-201167] Adults with DS are at high risk of developing Alzheimer’s Disease (AD), which can be attributed partially to the triplication and overexpression of APP on Chromosome 21. Given this high risk of AD, NfL may serve as a specific marker of AD-related neurodegeneration within this high-risk population. We further hypothesize that levels of NfL in plasma are influenced by genetic risk variants, which may eventually impact the risk for AD. Our genome-wide scan of two different cohorts of adults with DS have identified a set of promising loci. To confirm and to extend our finding from adults with DS to the general population, we request access to ADNI data to determine whether our findings in DS are supported by and are generalizable in an independent, non-DS cohort. Planned analyses include: assessing the association of candidate variants/genes with plasma NFL levels; assessing the association of genotype of the most promising variants with other AD-related phenotypes, such as: plasma/CSF levels of AD biomarkers (e.g., Ab-42, Ab-40, tau), clinical outcomes (e.g., dementia status, age-at-onset of AD), and neuropsychological measures (e.g., memory scores).