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Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease
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Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease
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Journal Article
Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease
2018
Overview
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.
