Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Fogel, B.L., Klopstock, T., Lynch, D.R., Maltecca, F., Verma, M., Minassian, B.A., Platt, F.M., Gonçalves, D.F., Puccio, H., Roos, A. and Synofzik, M. (2025), Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies. Ann Neurol. doi:10.1002/ana.27271 

 Autosomal recessive cerebellar ataxias (ARCAs) represent over 200 clinically heterogeneous genetic conditions involving degeneration of the cerebellum and associated tracts with resultant impairment of balance and coordination. Advancements in genomic testing have enabled rapid identification of the majority of known recessive disorders, shifting research focus to the development of targeted mechanistic treatments addressing underlying physiological pathways. Molecular classification allows recognition of cellular, biochemical, and genetic targets for high-effect precision therapy development. ARCAs represent a significant global health burden, requiring establishment of a robust pathway for novel therapeutic discovery through modification of mechanisms of disease pathogenesis and subsequent clinical trial development.

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies