Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
A 28-year-old woman with early-onset spasticity of lower limbs followed by progressive trunk and limb ataxia, dysarthria, and neuropathy. Note the relatively mild upper limb ataxia compared to the severe involvement of her lower limbs. Eye movement abnormalities include gaze-evoked nystagmus, saccadic pursuit, and dysmetria of saccades.
Massimo Pandolfo, MD; Mario Manto, MD, PhD
CONTINUUM: Lifelong Learning in Neurology. 19(5, Movement Disorders):1312-1343, October 2013