Brain Sciences, 2023 Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness.
Ruben Jauregui +9 more
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A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023 Background Wolfram syndrome is due to a mutation of the WFS1 gene that codes for the transmembrane protein wolframin. This protein is located in the endoplasmic reticulum and is expressed at higher concentrations in the beta cells of pancreatic islets ...
Ayca Kocaaga +2 more
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Evaluating the use of GLP-1 receptor agonists in Wolfram syndrome patients [PDF]
Frontiers in EndocrinologyIntroductionWolfram syndrome is a rare autosomal recessive disorder caused by pathogenic variants in the WFS1 gene and characterized by early-onset, insulin-dependent diabetes mellitus, optic atrophy, sensorineural hearing loss, arginine vasopressin ...
Laura A. Lee +13 more
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WFS1 gene delivery rescues visual function in a mouse model of Wolfram syndrome [PDF]
Acta Neuropathologica CommunicationsWolfram syndrome is a rare childhood neurodegenerative disease characterized by diabetes followed by severe and rapid optic atrophy leading to blindness before the age of 20.
Jolanta Jagodzinska +7 more
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Neurofilament light chain but not glial fibrillary acidic protein serum levels are elevated in Wolfram syndrome [PDF]
Frontiers in NeuroscienceBackgroundWolfram syndrome is a rare genetic disorder caused by pathogenic variants in the WFS1 gene. Progressive neurodegeneration, a key feature of the disease, is an important target of current and future clinical trials.
Matthew J. Jansen +14 more
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Two brothers with late onset Wolfram syndrome [PDF]
Journal of Clinical and Translational Endocrinology Case ReportsWolfram syndrome (OMIM #222300) is a rare cause of diabetes mellitus. Mutations in the WFS1 (Wolfram Syndrome-1) gene lead to diabetes mellitus, as well as deafness, neurological symptoms, urological and endocrinological disorders.
Lodi CW. Roksnoer +3 more
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Clinical trials for Wolfram syndrome neurodegeneration: Novel design, endpoints, and analysis models. [PDF]
PLoS ONEObjectiveWolfram syndrome, an ultra-rare condition, currently lacks effective treatment options. The rarity of this disease presents significant challenges in conducting clinical trials, particularly in achieving sufficient statistical power (e.g., 80%).
Guoqiao Wang +4 more
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A case of a young patient with progressive vision loss: An atypical presentation of the rare Wolfram Syndrome in a Middle Eastern individual [PDF]
American Journal of Ophthalmology Case ReportsPurpose: To describe an atypical presentation of a rare disease in a young middle eastern woman with a relatively adult-onset type 1 diabetes mellitus, bilateral optic atrophy and progressive decreased vision diagnosed as the Wolfram disease. Observation:
Meishar Meisel +4 more
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Wolfram Syndrome Type I Case Report and Review—Focus on Early Diagnosis and Genetic Variants [PDF]
MedicinaBackground and Objectives: Wolfram syndrome type 1 (OMIM# 222300; ORPHAcode 3463) is an extremely rare autosomal recessive syndrome with a 25% recurrence risk in children.
Alexandru Daniel Jurca +6 more
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A case Report of Wolfram Syndrome
Journal of Rehabilitation, 2007 Wolfram syndrome is the association of diabetes mellitus, optic atrophy, diabetes insipidus and sensorineural deafness and is sometimes called DIDMOAD (Diabetes Insipidus, Diabets Mellitus, Optic Atrophy, and Deafness).
Zahra Razavi, Mohammad Mehdi Taghdiri
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