Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
2014
Summary • ARSACS is a rare autosomal recessive disorder characterised clinically by cerebellar ataxia, spasticity, pyramidal signs, peripheral neuropathy and skeletal foot abnormalities • It is caused by mutations in the SACS gene which encodes the 520kDa protein sacsin • The availability of the genetic test has extended the clinical spectrum to include examples without spasticity or ataxia • Retinal examination shows retinal striations on fundoscopy and thickening of the retinal nerve fibre layer on ocular coherence tomography (OCT) in the majority of the cases • Neurophysiological studies show an early demyelinating sensorimotor neuropathy with progressive axonal degeneration • MR imaging shows superior vermian cerebellar atrophy, thinning of the cervical spinal cord and pontine linear hypointensities
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