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 […]
The Neuroradiologic Spectrum of Wolfram Syndrome
Ann Indian Acad Neurol. 2025 Dec 6. doi: 10.4103/aian.aian_800_25. Online ahead of print. NO ABSTRACT PMID:41355012 | DOI:10.4103/aian.aian_800_25
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 […]
Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity
J Pediatr Endocrinol Metab. 2025 Nov 24. doi: 10.1515/jpem-2025-0316. Online ahead of print. ABSTRACT OBJECTIVES: Monogenic diabetes (MD) is a group of diabetes subtypes caused by defects in single genes. We report phenotypes and genotypes of MD among Sudanese children. METHODS: Referred patients (from birth to 18 years of age) with diabetes and a clinical […]
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 […]
Wolfram syndrome: A perspective on gene editing as a therapeutic strategy
Neural Regen Res. 2025 Oct 30. doi: 10.4103/NRR.NRR-D-25-00835. Online ahead of print. NO ABSTRACT PMID:41169224 | DOI:10.4103/NRR.NRR-D-25-00835
Neutropenia Through Enhanced Neutrophil Apoptosis and Secondary Necrosis in Wolfram Syndrome 1
Turk J Haematol. 2025 Oct 30. doi: 10.4274/tjh.galenos.2025.2025.0379. Online ahead of print. NO ABSTRACT PMID:41163307 | DOI:10.4274/tjh.galenos.2025.2025.0379
Respiratory Failure Due to Strongyloides stercoralis Hyperinfection: A Case Report of a Neglected Tropical Disease
Cureus. 2025 Sep 24;17(9):e93162. doi: 10.7759/cureus.93162. eCollection 2025 Sep. ABSTRACT We report the case of a 25-year-old male patient admitted to the intensive care unit due to respiratory failure. The patient presented to the Emergency Department with shortness of breath, productive cough, and fever and was initially treated empirically for suspected community-acquired pneumonia of bacterial […]