Brainstem and optic pathway involvement in wolfram syndrome
Neurol Sci. 2025 Jun 27. doi: 10.1007/s10072-025-08239-y. Online ahead of print. NO ABSTRACT PMID:40576837 | DOI:10.1007/s10072-025-08239-y
The significance of ophthalmological evaluation in the correct diagnosis of pediatric insulin-dependent diabetes mellitus: lessons from novel WFS1 variants
Diabetes Metab. 2025 Jun 15:101676. doi: 10.1016/j.diabet.2025.101676. Online ahead of print. ABSTRACT Wolfram syndrome 1 is an autosomal recessive disorder often commencing as insulin dependent diabetes, but with inherent progressive ultimately fatal neurodegeneration. We report two pediatric cases, referred as unregulated insulin dependent diabetes mellitus, initially misdiagnosed as type 1 diabetes, in whom whole exome […]
A case of a young patient with progressive vision loss: An atypical presentation of the rare Wolfram Syndrome in a Middle Eastern individual
Am J Ophthalmol Case Rep. 2025 May 16;39:102354. doi: 10.1016/j.ajoc.2025.102354. eCollection 2025 Sep. ABSTRACT PURPOSE: 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: A 38-year-old female patient […]
A Hidden Diagnosis: Neurogenic Bladder Leading to Acute Kidney Failure in Wolfram Syndrome
Cureus. 2025 May 6;17(5):e83594. doi: 10.7759/cureus.83594. eCollection 2025 May. ABSTRACT Wolfram syndrome (WS) is a rare, autosomal recessive neurodegenerative disorder characterized by progressive multisystemic involvement, including diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural hearing loss, and urological dysfunction. While diabetes mellitus is typically the first clinical sign, atypical presentations can delay the diagnosis. We report […]
Profile of monogenic diabetes: a Pan-India study
Diabetes Res Clin Pract. 2025 Jun 2:112289. doi: 10.1016/j.diabres.2025.112289. Online ahead of print. ABSTRACT AIM: To evaluate the frequency of monogenic diabetes among individuals clinically suspected to have monogenic diabetes in India. METHODS: Participants (n = 774) were recruited from 65 diabetes centres across India (http://monogenicdiabetes.in/Collaborators.html). Inclusion criteria were: age at diagnosis of diabetes ≤30 […]
Impaired Compensatory Vasodilatory Effect Mediated by Wolfram Syndrome 1 and Corticotropin-Releasing Hormone Family Peptides in 17alpha-Ethynylestradiol-Induced Intrahepatic Cholestasis Pregnant Rats When Under Additional Acute Hypoxia Stress
Matern Fetal Med. 2021 Dec 15;4(1):7-16. doi: 10.1097/FM9.0000000000000137. eCollection 2022 Jan. ABSTRACT OBJECTIVE: To investigate the possible regulatory mechanism of corticotropin-releasing hormone (CRH), urocortin (UCN), and Wolfram syndrome 1 (WFS1) in 17α-ethynylestradiol (EE)-induced intrahepatic cholestasis pregnant rats and its ischemia reperfusion (IR) model. METHODS: Pregnant rats (n = 60) were randomly divided into four experimental […]
Proteomic profiling of pseudorabies virus-infected PK-15 cells based on 4D label free analysis
Vet Res Forum. 2025;16(3):141-147. doi: 10.30466/vrf.2024.2026963.4239. Epub 2025 Mar 15. ABSTRACT Pseudorabies virus (PRV) heavily depends on host machinery to support its life cycle. Investigating the interaction between PRV and host could aid in the understandings of viral pathogenesis. In this study, we performed a 4D label free proteomic method to examine the differentially expressed […]
Clinical trials for Wolfram syndrome neurodegeneration: Novel design, endpoints, and analysis models
PLoS One. 2025 May 9;20(5):e0321598. doi: 10.1371/journal.pone.0321598. eCollection 2025. ABSTRACT OBJECTIVE: Wolfram 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%). The objective of this study is to propose a novel clinical trial design based […]
Isolated and Syndromic Genetic Optic Neuropathies: A Review of Genetic and Phenotypic Heterogeneity
Int J Mol Sci. 2025 Apr 20;26(8):3892. doi: 10.3390/ijms26083892. ABSTRACT Nonsyndromic and syndromic hereditary optic neuropathies (HONs) encompass a variety of genetic illnesses that cause progressive optic nerve damage, resulting in considerable vision impairment. These disorders result from pathogenic variants in mitochondrial or nuclear DNA, impacting essential cellular processes like oxidative phosphorylation, mitochondrial dynamics, and […]
Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective
Andrology. 2025 Apr 29. doi: 10.1111/andr.70049. Online ahead of print. ABSTRACT BACKGROUND: WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra-rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early-onset insulin-dependent diabetes, optic atrophy, central diabetes insipidus and sensi-neuronal deafness. It is caused predominantly by bi-allelic mutations […]