A hidden gene finally explains this rare neurological disorder
Researchers in Germany have identified the CD99L2 gene as a cause for X-linked spastic ataxia, a rare neurological disorder. The study reveals that the gene is essential for neuronal signaling and interacts with the CAPN1 protein.
Why it matters
This discovery provides a potential pathway for diagnosing and treating previously unexplained neurodegenerative movement disorders.
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 report is a straightforward summary of scientific findings published in a peer-reviewed journal.
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