Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was first described in the French-Canadian founder population of Quebec in 1978, but genetically confirmed patients have now been reported in individuals from Europe and Japan. Ataxia, dysarthria, spasticity with extensor plantar reflexes, distal muscle wasting, sensorimotor neuropathy and… (More)
DOI: 10.1136/bjophthalmol-2012-302309

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