Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy.

Gaucher disease occurs mainly as a result of a deficiency of the lysosomal enzyme beta-glucocerebrosidase activity. A rare variant form of Gaucher disease is known in which saposin C required for glucosylceramide degradation is deficient. In an earlier paper we described the first cases of two siblings with the non-neuronopathic form of Gaucher disease caused by saposin C deficiency [Tylki-Szymańska et al.

Oral citicoline treatment improves visual pathway function in glaucoma.

Background: Increased latency and reduced amplitude of visual evoked potentials (VEP), frequently encountered in ocular hypertension or open-angle glaucoma, suggest slowed neural conduction in the visual pathways. An improvement in VEP latency and amplitude has been reported following repeated intramuscular injections of citicoline, a neuroprotective drug. Our aim was to find whether citicoline given orally would produce a similar effect.