Genome analysis uncovers new cause of rare movement disorder

Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team in Bochum and Tübingen has now solved one piece of the puzzle: The researchers examined 2,811 patients with ataxia, hereditary spastic paraplegia, and dystonia and identified disease-causing variants of the gene CD99L2 as the cause of X-linked spastic ataxia. Their findings are published in Nature Communications on February 14, 2026.