Case report
Aug 2026
The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS
This case adds longitudinal clinical, neuroimaging, ophthalmological, and neuropsychological data to the limited literature on patients carrying the p.Arg272His variant, supporting further investigation of genotype–phenotype relationships in ARSACS.
Vincenzo Sortino, A. Sapuppo, Anastasia Bernabini et al.
· Neurogenetics · 0 citations