Annals of clinical and translational neurology
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Half-Siblings.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R J McKinlay Gardner, Pamela A McCombe
Published: 202510.1002/acn3.70236
Abstract
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half-siblings who presented with progressive…
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