Category: Wolfram syndrome

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 […]

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 […]

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review

Front Neurol. 2025 Oct 31;16:1623314. doi: 10.3389/fneur.2025.1623314. eCollection 2025. ABSTRACT BACKGROUND AND OBJECTIVES: Wolfram syndrome (WFS) is a genetic disorder mainly caused by pathogenic variants in the WFS1 gene. It is characterized clinically by optic atrophy (OA), diabetes mellitus (DM), sensorineural hearing loss (SNHL), diabetes insipidus (DI), and variable neurological/psychiatric symptoms. WFS typically manifests before […]