Researchers Discover Gene Responsible for Hereditary Brain Disorder

A global team of neuroscientists, led by researchers at Mayo Clinic in Jacksonville, Fla., have discovered the gene responsible for a brain disorder that may be much more common than thought. As reported in the Dec. 25 online issue of Nature Genetics, the researchers say they identified 14 different mutations in the gene CSF1R that lead to development of hereditary diffuse leukoencephalopathy with spheroids (HDLS) — a devastating disorder of the brain’s white matter that leads to death in people ages 40-60. People who inherit the abnormal gene always develop HDLS, and until now, a definite diagnosis required examination of brain tissue at biopsy or autopsy.

Based on these findings, a genetic diagnosis now will be possible without need for a brain biopsy or autopsy. According to the team’s senior investigator, neurologist Zbigniew K. Wszolek, M.D., a significant number of people who tested positive for the abnormal gene in this study had been diagnosed with a wide range of other conditions. These individuals were related to a patient known to have HDLS, so their genes also were examined. For more information, click here to read the full release.