Scientists Discover Mutations Associated With Early Onset Dementia

A study from Trinity College Dublin researchers in EMBO Molecular Medicine revealed that dysfunctional circulating white blood cells were the key driver of neurodegeneration in adult onset Leukoencephalopathy with axonal Spheroids and Pigmented glia (ALSP), reports EurekAlert . ALSP is marked by mutations in a gene called Colony stimulating factor-1 receptor (CSF1R). "Our findings have shed light on a novel mechanism of neurodegeneration that may ultimately teach us more about common forms of dementia," said Trinity Professor Matthew Campbell. The research determined that a disruption in CSF1R function in patients, as well as in pre-clinical models, harms the blood-brain barrier, which can subsequently weaken the integrity of capillaries in the brain, causing leakage and inducing deterioration. "The most exciting aspect of our study is that we have now honed in on a novel pathway that to date has not been explored in great detail," said Trinity's Conor Delaney. "Additionally, our data suggest that modifying white blood cell function may be therapeutically relevant for progressive neurodegenerative conditions."