The Neuroradiologic Spectrum of Wolfram Syndrome
A 34-year-old woman developed type 1 diabetes at age 9. Around age 16, she experienced progressive vision loss, followed by gradual sensorineural hearing loss at 24. Genetic testing revealed a WFS1 mutation, confirming Wolfram syndrome (WS), a rare autosomal recessive, progressive neurodegenerative disorder.WS is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness-summarized by the acronym DIDMOAD.
Authors
- Mei Ting Lam (ORCID: https://orcid.org/0000-0003-4882-5151)
- Bhavesh Trikamji (ORCID: https://orcid.org/0000-0002-4814-2118)
Institutions
- University of California, Riverside (US)
- University of California, Los Angeles (US)
Publication Details
- Journal
- Annals of Indian Academy of Neurology
- Published
- 2025-12-06
- DOI
- https://doi.org/10.4103/aian.aian_800_25
- Primary Topic
- Endoplasmic Reticulum Stress and Disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00