Category: Wolfram syndrome

Prevalence and mechanisms of subacromial impingement in breast cancer patients after breast-conserving surgery and radiation therapy: a case-cohort study

Breast Cancer Res Treat. 2025 Feb;209(3):553-561. doi: 10.1007/s10549-024-07514-4. Epub 2024 Oct 21. ABSTRACT PURPOSE: Subacromial impingement is a painful shoulder disorder, which may be common after breast cancer treatment. A previous study showed a high prevalence after mastectomy but prevalence after conservatively treated patients is unknown. Impingement mechanisms in breast cancer survivors have not been […]

The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype

Genes (Basel). 2025 Jan 6;16(1):57. doi: 10.3390/genes16010057. ABSTRACT BACKGROUND/OBJECTIVES: A heterozygous mutation in the WFS1 gene is responsible for autosomal dominant non-syndromic hearing loss (DFNA6/14/38) and Wolfram-like syndrome, which is characterized by bilateral sensorineural hearing loss with optic atrophy and/or diabetes mellitus. However, detailed clinical features for the patients with the heterozygous p.A684V variant remain […]

A Rare Case of Wolfram Syndrome Presenting With Tuberculous Meningitis: A Case Report

Clin Case Rep. 2025 Jan 16;13(1):e70116. doi: 10.1002/ccr3.70116. eCollection 2025 Jan. ABSTRACT Wolfram syndrome is an extremely rare condition composed of a tetrad of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. When concurrently presenting with another condition, such as tuberculous meningitis, the widespread range of resulting symptoms delays the establishment of diagnosis and treatment, […]

Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations

Genes (Basel). 2024 Dec 12;15(12):1592. doi: 10.3390/genes15121592. ABSTRACT Background:WFS1-spectrum disorders are caused by a mutation in the WFS1 gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single causative variant in the WFS1 gene, such as Wolfram-like syndrome, […]

Cochlear implant in Wolfram syndrome: A case report

Cochlear Implants Int. 2024 Dec 23:1-5. doi: 10.1080/14670100.2024.2442826. Online ahead of print. ABSTRACT INTRODUCTION: Wolfram syndrome, a rare autosomal recessive disorder, is characterised by diabetes insipidus, juvenile diabetes mellitus, optic nerve atrophy and deafness (DIDMOAD). CASE REPORT: We present a case of a 21-year-old male diagnosed with Wolfram syndrome who underwent cochlear implantation due to […]

Dual role of neuroplastin in pancreatic β cells: Regulating insulin secretion and promoting islet inflammation

Proc Natl Acad Sci U S A. 2024 Aug 13;121(33):e2411234121. doi: 10.1073/pnas.2411234121. Epub 2024 Aug 6. ABSTRACT Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)-resident secretory protein that reduces inflammation and promotes proliferation in pancreatic β cells. Numerous studies have highlighted the potential of MANF as a therapeutic agent for diabetes mellitus (DM), […]

Early trigeminal and sensory impairment and lysosomal dysfunction in accurate models of Wolfram syndrome

Exp Neurol. 2024 Dec 9:115099. doi: 10.1016/j.expneurol.2024.115099. Online ahead of print. ABSTRACT Wolfram syndrome (WS) is a rare condition caused by homozygous or compound heterozygous mutations in the WFS1 gene primarily. It is diagnosed on the basis of early-onset diabetes mellitus and optic nerve atrophy. Patients complain of trigeminal-like migraines and show deficits in vibration […]

Novel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings

Ann Indian Acad Neurol. 2024 Dec 4. doi: 10.4103/aian.aian_613_24. Online ahead of print. ABSTRACT Wolfram syndrome (WS), a rare genetic neurodegenerative condition, is primarily characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss, along with diverse systemic manifestations. Late-stage cases exhibit widespread brain atrophy. While bleeding tendencies are not commonly observed in […]

A NOVEL DE NOVO LIKELY PATHOGENIC VARIANT OF WFS-1 GENE IN A PAKISTANI CHILD WITH NON-CLASSIC WFS-1 SPECTRUM DISORDER

J Ayub Med Coll Abbottabad. 2024 Apr-Jun;36(2):433-435. doi: 10.55519/JAMC-02-12379. ABSTRACT ABSTRACT: Wolfram syndrome is a progressive neurodegenerative disorder caused by an alteration in the WFS-1 gene, located on chromosome 4p16.1 and is characterized by the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). WFS-1 gene encodes for a transmembrane protein termed Wolframin found […]