A rare cause of inherited cognitive decline known as CSF1R-Related Disorder (CSF1R-RD) is named for mutations in the CSF1R gene, discovered by the Mayo Clinic. Memory loss occurs as the condition advances, while early symptoms include personality changes, anxiety, depression, and loss of inhibition. Genetic testing has become more widely available, but there is no cure for the disorder.
A rare cause of cognitive decline
In a new study published in Neurology Genetics, Mayo Clinic researchers have identified eight new genetic mutations in patients with CSF1R-related disorders around the world.
This highlights the prevalence of cognitive decline and paves the way for future personalized treatments. The finding also suggests that genetic and environmental factors may influence cognitive decline. For example, steroids used to treat inflammation and immune responses can reduce neuroinflammation and prevent the onset of symptoms in asymptomatic carriers of CSF1R gene mutations, according to the research team.
The researchers analyzed a set of data (demographics, genotype, family history, clinical status) collected from 14 families from the Americas, Asia, Australia and Europe. They found 15 CSF1R mutations, including eight not previously reported. There are almost 200 known mutations associated with this cognitive decline.
“This study contributes to the overall understanding of the heritability and global prevalence of rare neurodegenerative conditions in people with and without a family history of the disease,” says senior study author Zbigniew Wszolek, MD, a neurologist and clinical neurophysiologist at the Mayo Clinic . “The discovery will allow scientists to target disease-modifying treatments specific to these CSF1R gene mutations.”
Genetic variations can complicate the diagnosis of CSF1R-RD because symptoms can mimic other conditions, says Dr. Wszolek. Accurate diagnosis and medical management of the disease require updated diagnostic criteria and treatment options, he adds.
The research team says more studies are needed to examine asymptomatic and symptomatic carriers of CSF1R gene mutations to better understand the disease. They note that insights from such research will improve genetic counseling, guide the development of treatment interventions, and improve prediction of disease risk.
The Dr. Wszolek and his research team discovered the CSF1R gene in 2011. One of the team’s previous studies on CSF1R-related disorder, also known as CSF1R-related leukoencephalopathy, looked at a disease-modifying treatment.