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
    • Correction
    • Source
    • Cite
    • Save
    • Machine Reading By IdeaReader
    40
    References
    1
    Citations
    NaN
    KQI
    []