Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease.

Abstract excerpt

Wolfram syndrome (WS, OMIM 22233), is a rare, autosomal recessive, and neurodegenerative disease. The syndrome is also known as DIDMOAD, the acronym for diabetes insipidus diabetes mellitus, optic atrophy and deafness, which summarizes the main clinical features, among many others, in WS patients. The gene associated with the syndrome, called WFS1, is located in the 4p16.1 region. The WFS1 gene encodes for a...

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