Circadian Rhythm and Psychiatric Features in Wolfram Syndrome: Toward Chrono Diagnosis and Chronotherapy
Diagnostics (Basel). 2025 Sep 15;15(18):2338. doi: 10.3390/diagnostics15182338. ABSTRACT Background/Objectives: Wolfram syndrome is a rare neurodegenerative disorder primarily known for its multisystemic manifestations. Although classically associated with diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, emerging evidence suggests a consistent pattern of executive dysfunction in many affected individuals. Methods: Based on findings from a scoping review […]
Case Report: Rapid cataract development preceding diabetes mellitus in WFS1 spectrum disorder
Front Ophthalmol (Lausanne). 2025 Sep 9;5:1612964. doi: 10.3389/fopht.2025.1612964. eCollection 2025. ABSTRACT WFS1 spectrum disorder is a rare condition, characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD). A 2-year-old female patient with a history of sensorineural hearing loss presented with rapid, sequential cataract development. Diabetes mellitus was not manifested at the time but […]
Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects
Front Med (Lausanne). 2025 Sep 8;12:1639884. doi: 10.3389/fmed.2025.1639884. eCollection 2025. ABSTRACT Wolfram syndrome type 1 (WS1) is a rare genetic disorder characterized primarily by non-autoimmune diabetes mellitus, optic atrophy, deafness, and diabetes insipidus. It may include other endocrine, urological, psychiatric, and neurological disorders. The syndrome arises from mutations in the WFS1 gene, which encodes the […]
Clinical Research for Inherited Retinal Disease Related Pediatric Blindness: A Preliminary Descriptive Analysis Based on ClinicalTrials.gov
J Multidiscip Healthc. 2025 Sep 16;18:5865-5874. doi: 10.2147/JMDH.S539699. eCollection 2025. ABSTRACT BACKGROUND: Childhood blindness is a significant global health concern, consistently identified in existing research as stemming from rare genetic and congenital disorders. With the technological advances of the 21st century which have positively impacted many areas of human life, healthcare included, recent advances in […]
Could R-Ketamine and Wolfram Syndrome Inform Understanding of Depression and Suicidality? A Sigma-1 Receptor-Based Perspective
Hum Psychopharmacol. 2025 Sep;40(5):e70019. doi: 10.1002/hup.70019. ABSTRACT Loss of function mutations in the WFS1 gene cause Wolfram syndrome, which is characterized by juvenile-onset diabetes mellitus, diabetes insipidus, neurodegeneration, hearing loss and optic nerve atrophy. Psychiatric symptoms, including major depression and suicidal behavior, are common in this disorder. WFS1 mutations induce this condition through altering interactions […]
Diabetes and optic atrophy in a young adult: consider Wolfram syndrome
Pract Neurol. 2025 Sep 9:pn-2025-004764. doi: 10.1136/pn-2025-004764. Online ahead of print. ABSTRACT A 22-year-old woman had an 8-year history of progressive bilateral vision loss and of diabetes mellitus. Her mother had diabetes and two first cousins had severe congenital deafness. On examination, her visual acuities were 6/36 bilaterally, with absent colour vision and gross optic […]
WFS1 gene mutation associated with pediatric diabetes mellitus and congenital deafness: A case report
World J Diabetes. 2025 Aug 15;16(8):108946. doi: 10.4239/wjd.v16.i8.108946. ABSTRACT BACKGROUND: Wolfram syndrome is a rare autosomal recessive genetic disorder characterized by early-onset diabetes and progressive neurodegeneration, most notably sensorineural hearing loss and optic atrophy. Because its initial manifestations are usually similar to those of type 1 diabetes, the diagnosis may be delayed until other manifestations […]
Localization and connections of the tail of caudate and caudal putamen in mouse brain
Front Neural Circuits. 2025 Aug 4;19:1611199. doi: 10.3389/fncir.2025.1611199. eCollection 2025. ABSTRACT The neural circuits of the striatum (caudate and putamen) constitute a crucial component of the extrapyramidal motor system, and dysfunction in these circuits is correlated with significant neurological disorders including Parkinson’s disease and Huntington’s disease. Many previous studies in rodents revealed the neural connections […]
Topology of WFS1 Variants Linked With Islet Function and Higher Risk of Urological Symptoms in WFS1-Associated Disease
Pediatr Diabetes. 2025 Jul 31;2025:9955995. doi: 10.1155/pedi/9955995. eCollection 2025. ABSTRACT Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane (TM) structural protein (wolframin), is essential for several biological processes. Mutations of WFS1, autosomal dominant or recessive inherited, are related to a broad clinical spectrum. Molecular genetic tests were performed, and clinical phenotypes of three […]
WFS1 Gene Mutation (c.2389G > A) Induces Immune Disorders by Promoting DC Maturation through Inhibition of TMEM176A
Inflammation. 2025 Aug 6. doi: 10.1007/s10753-025-02325-1. Online ahead of print. ABSTRACT Mutations in the WFS1 gene, encoding wolframin (WFS1), are known to cause endoplasmic reticulum (ER) stress and lead to Wolfram Syndrome (WS). However, the role of WFS1 in immune inflammation remains unexplored. In this study, we identified that the WFS1 gene mutation (c.2389G > […]