Diabetes mellitus, and neuropsychiatric features in Wolfram Syndrome 1 by Luciana Rigoli in Journal of Clinical Case Reports Medical Images and Health Sciences
Diabetes mellitus, and neuropsychiatric features in Wolfram Syndrome 1 by Luciana Rigoli in Journal of Clinical Case Reports Medical Images and Health Sciences Abstract Wolfram syndrome 1, an autosomal recessive and neurodegenerative disorder, is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other disorders such as neuropsychiatric issues, abnormalities in the urinary tract and endocrinological alterations. The clinical course of WS1 is fast-progressing, with patients who die at a mean age of 30 years. Respiratory failure is the most prevalent cause of death due to brainstem atrophy. Approximately 90% of WS1 cases are caused by mutations in the WFS1 gene, which codes for wolframin, a transmembrane glycoprotein. Here, we will focus on two clinical features of WS1: diabetes mellitus, and neuropsychiatric disorders. Diabetes mellitus in WS1 is insulin-dependent, non-auto-immune, and has clinical features that differ from the most c...