Category: Wolfram syndrome

Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates

J Neuroophthalmol. 2026 Mar 24. doi: 10.1097/WNO.0000000000002451. Online ahead of print. ABSTRACT BACKGROUND: Wolfram syndrome type 1 (WS1) is a rare autosomal recessive disorder classically associated with diabetes mellitus (DM) and optic atrophy (OA). We aimed to characterize OA in WS1 and evaluate optical coherence tomography (OCT) and genetic biomarkers as tools for disease monitoring […]

Ophthalmic, Systemic and Genetic Features in Wolfram Syndrome

Neuroophthalmology. 2025 Oct 24;50(2):125-133. doi: 10.1080/01658107.2025.2574723. eCollection 2026. ABSTRACT To evaluate quantitative microvascular ocular features using optical coherence tomography angiography (OCTA) in patients with Wolfram syndrome (WFS) and compared it with healthy controls. This cross-sectional study included patients with WFS and healthy controls. Diagnosis of WFS was based on clinical presentation and identification of biallelic […]

Epilepsy Phenotypic Spectrum of NUS1-Related Disorder: A Case Series

Ann Child Neurol Soc. 2026 Jan 21. doi: 10.1002/cns3.70056. Online ahead of print. ABSTRACT BACKGROUND: Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%-2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo-B receptor (NgBR), which stabilizes the dehydrodolichyl-diphosphate synthase […]

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 […]