Sankar Jayaprakash, Sumantra S. Majumdar, Harmanpreet Singh, Arjun Balasubramanian, Atul Khullar
Wolfram syndrome, named after the physician D J Wolfram is a rare inherited neurodegenerative disorder. It is characterised by diabetes insipidus, juvenile-onset insulin dependent diabetes mellitus, optic atrophy, and deafness, and hence is also known as DIDMOAD syndrome.1 Prevalence rates among the general population vary from 1 in 100,000 in North America to 1 in 770,000 in UK.2,3 The syndrome is caused by a defect in wolframin protein, a 100 kDa transmembrane protein localizing in the Endoplasmic Reticulum encoded by the WFS1 gene located in Chromosome 4p16.1. The protein is involved in the regulation of ER stress and calcium homeostasis and is found in abundance in pancreas, brain, heart and muscle.2 Two modes of inheritance of Wolfram syndrome have been documented, Autosomal recessive and Mitochondrial.
