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.

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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
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article

The Neuroradiologic Spectrum of Wolfram Syndrome

Mei Ting Lam, Bhavesh Trikamji
Annals of Indian Academy of Neurology
Endoplasmic Reticulum Stress and Disease
article

The Neuroradiologic Spectrum of Wolfram Syndrome

Mei Ting Lam, Bhavesh Trikamji
article en

Abstract

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.

Annals of Indian Academy of NeurologyVol. 29(1)
University of California, Riverside (US), University of California, Los Angeles (US)
Openalex Percentile: Top 59%
Endoplasmic Reticulum Stress and Disease
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The Neuroradiologic Spectrum of Wolfram Syndrome — Mei Ting Lam, Bhavesh Trikamji · Annals of Indian Academy of Neurology (2025) | TGRS Research Map | TGRS