Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

Luciana Rigoli, Placido Bramanti, Chiara Di Bella, Filippo De Luca

Research output: Contribution to journalReview articlepeer-review

Abstract

Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in death before the age of 50 years. The pathogenesis of WS1 is ascribed to mutations of human WFS1 gene on chromosome 4p encoding a transmembrane protein called wolframin which has physiological functions in membrane trafficking, secretion, processing, and/or regulation of ER calcium homeostasis. Different types of WFS1 mutations have been identified, and some of these have been associated with a dominant, severe type of WS.

Original languageEnglish
Pages (from-to)921-929
Number of pages9
JournalPediatric Research
Volume83
Issue number5
DOIs
Publication statusPublished - May 2018

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