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 ...
In total, 76 patients with CA (n=28) or HSP (n=48) were included for clinical exome sequencing. The cohort was largely nonconsecutive. Patients with a visiting history from our center were selected ...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder primarily caused by mutations in the SACS gene, which encodes the multifunctional protein sacsin.
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