Neurofilament light chain but not glial fibrillary acidic protein serum levels are elevated in Wolfram syndrome
Front Neurosci. 2026 Mar 18;20:1805916. doi: 10.3389/fnins.2026.1805916. eCollection 2026. ABSTRACT BACKGROUND: Wolfram 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. Serum neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) […]
Genotype-Based Severity Scoring System in Wolfram Syndrome: Correlation with Onset of Cardinal Symptoms and WFS1 Gene Variant Types
medRxiv [Preprint]. 2026 Mar 26:2026.03.24.26349216. doi: 10.64898/2026.03.24.26349216. ABSTRACT Wolfram syndrome is a rare genetic disorder characterized by antibody-negative early-onset atypical diabetes mellitus, optic nerve atrophy, sensorineural hearing loss, diabetes insipidus (arginine vasopressin deficiency), and progressive neurodegeneration, with significant variability in disease severity. We assessed the accuracy of a genotype-based severity scoring system to predict the […]
Synaptic Alterations Are Preceding the Axonal Loss in Optic Atrophy of Wolfram Syndrome Mouse Model
bioRxiv [Preprint]. 2026 Mar 25:2026.03.22.713521. doi: 10.64898/2026.03.22.713521. ABSTRACT Wolfram syndrome is a rare autosomal recessive disorder characterized by antibody-negative early-onset diabetes mellitus, optic atrophy, sensorineural hearing loss, arginine-vasopressin deficiency, and progressive neurodegeneration of the brainstem and cerebellum. It is caused primarily by pathogenic variants in the WFS1 gene, which encodes a transmembrane endoplasmic reticulum-resident protein […]
Expert perspectives on Myalgic encephalomyelitis/chronic fatigue syndrome – Insights from the 3(rd) International Conference of the Charite Fatigue Center
Autoimmun Rev. 2026 Mar 25:104043. doi: 10.1016/j.autrev.2026.104043. Online ahead of print. ABSTRACT Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex, multisystemic disorder mostly triggered by viral infections, with core symptoms including post-exertional malaise (PEM), fatigue, pain, and cognitive dysfunction. Its prevalence has increased significantly in the context of the coronavirus disease 2019 (COVID-19) pandemic. Despite […]
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 […]