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news.rub.de
New Genetic Cause of Rare Movement Disorder Discovered
Ruhr University Bochum reports that researchers analyzed 2,811 patients with ataxia, hereditary spastic paraplegia, and dystonia and identified disease-causing CD99L2 variants as the cause of X-linked spastic ataxia. The release says the work was published in Nature Communications and supported by cellular experiments showing CD99L2 interacts with CAPN1.
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pmc.ncbi.nlm.nih.gov
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
This open-access paper states that gene-burden analysis across rare movement disorder cohorts provided evidence that loss-of-function variants in CD99L2 cause X-linked spastic ataxia. It also reports cellular data showing CD99L2 acts as an activating interactor of CAPN1 and that disruption of this interaction likely drives neurodegeneration.
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scitechdaily.com
Researchers Solve Long-Standing Puzzle of Rare Neurological Disorder
ScienceDaily reports on the same study, saying the team analyzed 2,811 people with ataxia, hereditary spastic paraplegia, and dystonia and found CD99L2 disease-causing variants. It frames the result as identifying a previously unrecognized neurological role for CD99L2.
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x.com
A hidden gene finally explains this rare neurological disorder
This social media post repeats the claim that CD99L2 mutations explain a rare neurological disorder, but it is not a primary source and provides no independent methodological detail beyond the reposted summary.
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