Wolfram Syndrome: A Series of 4 Cases

Abstract Wolfram Syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), is a rare neurodegenerative disorder [1, 2]. This condition features symptoms that typically appear progressively from childhood through adulthood [3, 4, 5]. Diagnosis is based on specific clinical criteria and confirmed by genetic testing for mutations in the WFS1 gene [6, 7]. Insulin therapy remains the mainstay treatment for diabetes mellitus, but incretin analogs may provide benefit if initiated early [8, 9]. Prognosis is generally poor, with a mean life expectancy of 39 years, often due to central respiratory complications [3, 10]. Gene therapyiscurrentlyexperimental but promising [11].

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-12-27
DOI
https://doi.org/10.5281/zenodo.18302898
Primary Topic
Endoplasmic Reticulum Stress and Disease
Type
article
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article

Wolfram Syndrome: A Series of 4 Cases

Hinde Iraqi, Kaoutar Rifai, M. Chaouche, M.H. Gharbi et al.
Zenodo (CERN European Organization for Nuclear Research)
Endoplasmic Reticulum Stress and Disease
article

Wolfram Syndrome: A Series of 4 Cases

Hinde Iraqi, Kaoutar Rifai, M. Chaouche, M.H. Gharbi, K. Gorgi
article en

Abstract

Abstract Wolfram Syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), is a rare neurodegenerative disorder [1, 2]. This condition features symptoms that typically appear progressively from childhood through adulthood [3, 4, 5]. Diagnosis is based on specific clinical criteria and confirmed by genetic testing for mutations in the WFS1 gene [6, 7]. Insulin therapy remains the mainstay treatment for diabetes mellitus, but incretin analogs may provide benefit if initiated early [8, 9]. Prognosis is generally poor, with a mean life expectancy of 39 years, often due to central respiratory complications [3, 10]. Gene therapyiscurrentlyexperimental but promising [11].

Zenodo (CERN European Organization for Nuclear Research)
Mohamed I University (MA), Hôpital Ibn Sina-Rabat (MA), Ibn Sina Hospital (KW)
No poverty
Openalex Percentile: Top 31%
Endoplasmic Reticulum Stress and Disease
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