Category: Wolfram syndrome

Hypotheses on physiopathogenic mechanisms of fecal incontinence in Wolfram syndrome

IBRO Neurosci Rep. 2026 Aug 12;21:720-723. doi: 10.1016/j.ibneur.2026.07.024. eCollection 2026 Dec. ABSTRACT Type 1 Wolfram syndrome is a rare, neurodegenerative pathology characterized by the association of insulin-dependent diabetes and optic atrophy. Other symptoms include diabetes insipidus, hearing loss and neurological damage. Fecal incontinence was recently recognized as a new symptom. Its pathophysiological mechanism remains unknown. […]

Deletion of wfs1 Impairs Oligodendrocyte Precursor Cells Dorsal Distribution and Myelination Through the wfs1-hmgcs1 Axis in Zebrafish

Biology (Basel). 2026 Aug 16;15(16):1402. doi: 10.3390/biology15161402. ABSTRACT Wolfram syndrome (WS) is a neurodegenerative disorder caused by mutations in the endoplasmic reticulum (ER) transmembrane protein WFS1. Mutations in WFS1 lead to ER stress and dysregulated calcium signaling, resulting in progressive neurological dysfunction. Myelination is a core pathological process in various central nervous system (CNS) diseases. […]

Neuro-ophthalmological manifestations and therapeutic development in Wolfram syndrome

Best Pract Res Clin Endocrinol Metab. 2026 Aug 16:102155. doi: 10.1016/j.beem.2026.102155. Online ahead of print. ABSTRACT Wolfram syndrome (WS) is a rare, progressive monogenic neurodegenerative disorder in which childhood-onset, insulin-deficient diabetes mellitus usually precedes optic atrophy and other multisystemic manifestations such as hearing loss, diabetes insipidus, urological and neuro-psychiatric abnormalities. This review summarises the underlying […]

Evaluating the use of GLP-1 receptor agonists in Wolfram syndrome patients

Front Endocrinol (Lausanne). 2026 Jul 30;17:1847818. doi: 10.3389/fendo.2026.1847818. eCollection 2026. ABSTRACT INTRODUCTION: Wolfram 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 deficiency, and progressive neurodegeneration driven by chronic endoplasmic reticulum (ER) stress; no proven […]

Exploratory Associations Between Multimodal MRI-Derived Features and Neurological Symptoms in Wolfram Syndrome: A Spanish Cohort Pilot Study

Diagnostics (Basel). 2026 Jul 30;16(15):2396. doi: 10.3390/diagnostics16152396. ABSTRACT Background/Objectives: Wolfram syndrome is an ultra-rare, progressive multisystem disorder in which endocrine and sensory manifestations coexist with neurological involvement. Quantitative magnetic resonance imaging (MRI) may help characterize central nervous system involvement in this condition; however, evidence derived from small imaging cohorts requires cautious interpretation. This study aimed […]

Global trends and hotspots in diabetes and hearing loss: a 20-year systematic bibliometric study

Front Med (Lausanne). 2026 Jul 28;13:1867924. doi: 10.3389/fmed.2026.1867924. eCollection 2026. ABSTRACT BACKGROUND: Diabetes and hearing loss are increasingly recognized as critical global public health concerns. Cumulative evidence indicates a close association between diabetes and auditory impairment; however, the knowledge structure, research hotspots, and developmental trends in this field remain insufficiently and systematically characterized. This systematic […]

Genotype-based severity scoring system in Wolfram Syndrome: correlation with onset of cardinal symptoms and WFS1 gene variant types

Front Genet. 2026 Jul 15;17:1839135. doi: 10.3389/fgene.2026.1839135. eCollection 2026. ABSTRACT BACKGROUND: Wolfram syndrome is a rare genetic disorder characterized by antibody-negative early-onset atypical diabetes mellitus, optic nerve atrophy, sensorineural hearing loss, central diabetes insipidus (arginine vasopressin deficiency), and progressive neurodegeneration, with significant variability in disease severity. We assessed the accuracy of a genotype-based severity scoring […]

Consensus Recommendations for the Clinical Management of Wolfram syndrome Using a Delphi Method

medRxiv [Preprint]. 2026 Jul 2:2026.07.02.26357130. doi: 10.64898/2026.07.02.26357130. ABSTRACT BACKGROUND: Wolfram syndrome is a rare neurodegenerative disorder, most commonly caused by pathogenic variants in WFS1 , while cases due to CISD2 are exceedingly rare. The estimated prevalence is 1 in 160,000 to 770,000 individuals worldwide. In these clinical guidelines, disorders caused by WFS1 are referred to […]