Article

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: A retrospective review

2024-09-01

Abstract excerpt

<h4>Background and Objectives</h4> Wolfram syndrome (WFS) is a genetic disorder mainly caused by pathogenic variants in the WFS1 gene. It is characterized clinically by optic atrophy (OA), diabetes mellitus (DM), sensorineural hearing loss (SNHL), diabetes insipidus (DI), and variable neurological/psychiatric symptoms. WFS typically manifests before age 20 and progresses into adulthood. Classical neuroradiological...

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Literature Corpus work: 6e998b21-d1ae-5d5d-9de3-338efe2d0cb0
DOI: 10.1101/2024.08.31.24312796

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