Routine Fundoscopy Uncovering Wolfram Syndrome in a Diabetic Patient: A Case Report
Cureus. 2026 Jan 11;18(1):e101313. doi: 10.7759/cureus.101313. eCollection 2026 Jan. ABSTRACT Wolfram syndrome is a rare inherited neurodegenerative disorder, in which early ophthalmologic abnormalities may provide the initial diagnostic clue. In this article, we report the case of a 20-year-old male with early-onset bilateral deafness and insulin-dependent diabetes mellitus who was referred for evaluation of possible […]
Genomic Insights into Unspecified Monogenic Forms of Diabetes and Their Associated Comorbidities: Implication for Treatment
Curr Issues Mol Biol. 2025 Dec 17;47(12):1055. doi: 10.3390/cimb47121055. ABSTRACT This study focuses on the genetic and clinical characterization of Monogenic Forms of Diabetes (MFD), which are frequently underdiagnosed or misclassified due to clinical similarities with type 1 and type 2 diabetes. Researchers performed Exome Sequencing on 11 Tunisian patients suspected of having MFD. The […]
A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report
Front Endocrinol (Lausanne). 2026 Jan 14;16:1743282. doi: 10.3389/fendo.2025.1743282. eCollection 2025. ABSTRACT OBJECTIVE: To describe the clinical presentation of a patient with early-onset diabetes and to report a novel heterozygous WFS1 variant of uncertain significance (VUS) identified in this case. This report aims to contribute to the phenotypic and genotypic spectrum of WFS1-related disorders and to […]
Pridopidine, a Potent and Selective Therapeutic Sigma-1 Receptor (S1R) Agonist for Treating Neurodegenerative Diseases
Pharmaceuticals (Basel). 2025 Dec 17;18(12):1900. doi: 10.3390/ph18121900. ABSTRACT Pridopidine is a highly selective sigma-1 receptor (S1R) agonist in clinical development for Huntington’s disease (HD) and amyotrophic lateral sclerosis (ALS). The S1R is a ubiquitous chaperone protein enriched in the central nervous system and regulates multiple pathways critical for neuronal cell function and survival, including cellular […]
Phenotype Correlations of Neurological Manifestations in Wolfram Syndrome: Predictive Modeling in a Spanish Cohort
Diagnostics (Basel). 2025 Dec 16;15(24):3213. doi: 10.3390/diagnostics15243213. ABSTRACT Background: Wolfram syndrome (WS) is an ultrarare neuroendocrine disorder caused by pathogenic variants in WFS1, frequently leading to progressive neurological, autonomic, and cognitive impairment. Anticipating neurological trajectories remains challenging due to marked phenotypic variability and limited genotype-phenotype data. Methods: Forty-five genetically confirmed patients with WS were evaluated […]
Optic Atrophy Predominant WFS1 Disorder-A Case-Control Study
J Neuroophthalmol. 2025 Dec 19. doi: 10.1097/WNO.0000000000002428. Online ahead of print. ABSTRACT BACKGROUND: Wolfram syndrome type 1 (WS1), or “DIDMOAD” (diabetes insipidus, diabetes mellitus, optic atrophy (OA), and deafness, OMIM #222300), is a rare neurodegenerative disorder resulting from homozygous, compound heterozygous autosomal recessive (AR), or rarely autosomal dominant mutations in the WFS1 gene. Isolated OA […]
The Neuroradiologic Spectrum of Wolfram Syndrome
Ann Indian Acad Neurol. 2025 Dec 6. doi: 10.4103/aian.aian_800_25. Online ahead of print. NO ABSTRACT PMID:41355012 | DOI:10.4103/aian.aian_800_25
Hyperglycemic Hyperosmolar State as the Initial Presentation of Wolfram Syndrome: A Common Complication Revealing a Rare Disease-A Case Report
Clin Case Rep. 2025 Nov 28;13(12):e71563. doi: 10.1002/ccr3.71563. eCollection 2025 Dec. ABSTRACT Wolfram syndrome is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD). We present the case of a 19-year-old male with a history of juvenile-onset non-autoimmune diabetes mellitus who presented with fever, chills, seizures, altered sensorium, […]
A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal
Cureus. 2025 Oct 25;17(10):e95410. doi: 10.7759/cureus.95410. eCollection 2025 Oct. ABSTRACT Wolfram syndrome is a rare autosomal recessive disorder characterized by diabetes mellitus, optic atrophy, and progressive neurodegeneration, often summarized by the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We report a 27-year-old male with a history of diabetes mellitus, progressive visual loss […]
CISD2 ensures adequate ER-mitochondrial coupling, critically supporting mitochondrial function in neurons
Acta Neuropathol Commun. 2025 Nov 26;13(1):242. doi: 10.1186/s40478-025-02132-7. ABSTRACT Loss of Cisd2, an iron-sulfur cluster transfer protein, results in type 2 Wolfram syndrome (WS2), a disorder associated with severe impacts on pancreatic β cell and neuronal functions. Cisd2 has been implicated in regulating intracellular Ca2+ signaling. However, the molecular basis and cellular consequences remain poorly […]