Levels of cerebrospinal fluid neurofilament light protein in healthy elderly vary as a function of TOMM40 variants.

摘要: Neurofilament light (NFL) proteins in cerebrospinal fluid (CSF) are a marker of neuronal damage, especially subcortical axonal injury and white matter disease. Subjects with Alzheimer's disease (AD) have shown elevated levels CSF NFL as compared to controls. However, the presence APOE e4 allele, an established risk factor for AD, was not found associate higher concentrations. We examined whether TOMM40 variants, which been reported influence age onset AD linkage disequilibrium APOE, effect on levels, 47 healthy, cognitively intact individuals or without e4. Our results show that alone does affect significantly; however appear interact. than non-e4 carriers, only when they do carry short poly-T variant TOMM40, is associated later may act protective against dose