A rare genetic disorder known as CSF1R-Related Disorder (CSF1R-RD) causes hereditary cognitive decline, with symptoms including memory loss, personality changes, anxiety, depression, and loss of inhibition. According to Mayo Clinic researchers, the condition is characterized by mutations in the CSF1R gene.
In a recent study published in Neurology Genetics, Mayo Clinic researchers identified eight novel genetic mutations in patients worldwide, highlighting the prevalence of the disease and paving the way for individualized treatment. The discovery suggests that both genetic and environmental factors may influence the disease, with steroids potentially reducing neuroinflammation and preventing symptom occurrence in asymptomatic carriers.
The study analyzed demographic, genotype, family history, clinical status data from 14 families across the Americas, Asia, Australia, and Europe, identifying 15 CSF1R mutations, including eight previously unknown. There are nearly 200 known mutations associated with this disease.
“This study contributes to our understanding of rare neurodegenerative conditions,” says senior study author Zbigniew Wszolek, M.D., a neurologist and clinical neurophysiologist at Mayo Clinic. “The discovery will allow scientists to target disease-modifying treatments specific to these mutations.”
Due to the complexity of genetic variations, accurate diagnosis and medical management require updated diagnostic criteria and treatment options. Further studies are needed to better understand the disease, including examining asymptomatic and symptomatic carriers of CSF1R gene mutations.
Source: https://medicalxpress.com/news/2024-09-genetic-mutations-rare-disorder-cognitive.html