Even with today's advanced DNA sequencing technologies, the underlying genetic causes of many rare movement disorders remain unknown. Researchers in Germany have now uncovered an important new clue. By analyzing 2,811 people with ataxia, hereditary spastic paraplegia, and dystonia, scientists identified harmful variants in a gene called CD99L2 as the cause of X-linked spastic ataxia.
The discovery, published in Nature Communications, helps explain a previously unsolved neurological disorder and offers new insight into how certain neurodegenerative diseases develop.
Researchers Link CD99L2 to Rare Neurological Disease
Before this study, CD99L2 was mainly recognized for its role in the immune system. No neurological function had been established for the gene.
Using a combination of genome-wide genetic analysis and laboratory experiments in cells, the research team demonstrated that CD99L2 is also essential for communication pathways within nerve cells. Their findings revealed that the gene plays a critical role in maintaining normal neuronal signaling.
