Charcot–Marie–Tooth disease and related disorders: an evolvi... : Current Opinion in Neurology
Charcot–Marie–Tooth disease and related disorders: an evolving landscape : Current Opinion …

Optical coherence tomography is a non-invasive, cost-efficient technique that provides high-
resolution in vivo imaging of retinal tissue. The peripapillary retinal nerve fibre layer and …

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset
neurodegenerative disease that was originally discovered in the population from the …

The progressive ataxias are a group of rare and complicated neurological disorders,
knowledge of which is often poor among healthcare professionals (HCPs). The patient …

The relationship between optical coherence tomography (OCT) measurements of the retinal
structures has been described for various neurological diseases including Multiple Sclerosis …

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a multisystem
hereditary ataxia associated with mutations in SACS, which encodes sacsin, a protein of still …

Ocular abnormalities occur frequently in Friedreich's ataxia (FRDA), although visual
symptoms are not always reported. We evaluated a cohort of patients with FRDA to …

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare
neurodegenerative disorder characterized by the triad of early-onset cerebellar ataxia …

Background Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an
important form of inherited ataxia with a varied clinical spectrum. Detailed studies of …

Introduction Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by
deficiency of frataxin, an essential mitochondrial protein involved in iron sulfur cluster …