| Abstrakt: |
Researchers from the University Hospital of Leipzig in Germany have discovered a novel adult onset leukodystrophy in 16 patients from eight families. The patients carry one of four different dominant variants in the CST3 gene. This leukodystrophy is characterized by recurrent episodes of hemiplegic migraine, motor symptoms, cognitive decline, and white matter changes in the brain. The study suggests that specific truncations of the cystatin C protein may result in abnormal function and aggregation. Further research is needed to confirm these findings and understand the cellular-level effects. [Extracted from the article] |
