ESPE Abstracts

Introduction and Aim: Historically known as Beriberi, Wernicke's encephalopathy (WE), is a neurological emergency caused by thiamine (vitamin B1) deficiency. It's characterized by ophthalmoparesis and ataxia and carries a risk of permanent sequelae if not treated immediately. Diagnosis and treatment are often delayed because most cases don't present with typical history and neurological picture. With the advent of nutritional conditions worldwid...

Background: Friedreich’s ataxia (FA) is an autosomal recessive neurodegenerative disorder characterised by progressive ataxia with limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, decreased vibratory sense and proprioception. The most common molecular abnormality is a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. Patients with FA are at risk of getting increased blood sugar levels, or ...