Story perspectives

New Gene Discovery Enhances Testing for Rare Movement Disorders

3/21/2026

Summary

Story summary

Researchers from Bochum and Tübingen linked CD99L2 to X-linked spastic ataxia, identifying disease-causing variants in 2,811 individuals.
The gene was previously linked to the immune system but now shows a role in neuronal signaling.
Disruptions in CD99L2 production affect the calcium-dependent protease CAPN1, contributing to impaired coordination and muscle stiffness.
The findings improve genetic testing for rare movement disorders and were published in Nature Communications.

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Story summary

Researchers from Bochum and Tübingen linked CD99L2 to X-linked spastic ataxia, identifying disease-causing variants in 2,811 individuals.
The gene was previously linked to the immune system but now shows a role in neuronal signaling.
Disruptions in CD99L2 production affect the calcium-dependent protease CAPN1, contributing to impaired coordination and muscle stiffness.
The findings improve genetic testing for rare movement disorders and were published in Nature Communications.