Category: Wolfram syndrome

Phase II trial of sodium phenylbutyrate and taurursodiol in Wolfram syndrome

J Clin Invest. 2026 May 15;136(10):e198519. doi: 10.1172/JCI198519. eCollection 2026 May 15. ABSTRACT PB&TURSO was associated with improved or stabilized pancreatic function, vision, and overall symptom burden in individuals with Wolfram syndrome, a rare and progressive degenerative disease. PMID:42138079 | DOI:10.1172/JCI198519

Expanding the phenotype of Wolfram syndrome: adult presentation with a novel WFS1 variant

JCEM Case Rep. 2026 May 5;4(6):luag066. doi: 10.1210/jcemcr/luag066. eCollection 2026 Jun. ABSTRACT Wolfram syndrome type 1 (WS1) is a rare autosomal recessive disorder involving diabetes mellitus, optic atrophy, and neurodegeneration, caused by biallelic WFS1 mutations. Though typically diagnosed in childhood, adult-onset cases may be missed due to variable symptom onset. We describe a 38-year-old woman […]

WFS1-related isolated diabetes induced by a WFS1 missense mutation: focus on the isolated diabetes phenotype

Orphanet J Rare Dis. 2026 Mar 27;21(1):180. doi: 10.1186/s13023-026-04291-9. ABSTRACT BACKGROUND: Wolfram syndrome is a rare disease caused by the mutation of WFS1 gene, characterized as s spectrum of disorders. We aim to investigate the clinical features and pathogenic mechanisms of a WFS1 missense mutation inducing atypical phenotype characterized solely by isolated diabetes mellitus (DM). […]

Pregnancy and Peripartum Multidisciplinary Management in Wolfram Syndrome Type 1: A Case Report

Diagnostics (Basel). 2026 Apr 8;16(8):1117. doi: 10.3390/diagnostics16081117. ABSTRACT Background/Objectives: Wolfram syndrome type 1 (WS1) is a rare, progressive, multisystem neurodegenerative disorder characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. As survival has improved, an increasing number of affected women are reaching reproductive age. However, evidence on pregnancy and peripartum management in […]

Omics in hereditary optic neuropathies:A systematic review of clinical studies with an integrated point of view

Surv Ophthalmol. 2026 Apr 28:S0039-6257(26)00059-7. doi: 10.1016/j.survophthal.2026.04.006. Online ahead of print. ABSTRACT Hereditary optic neuropathies are characterized by bilateral visual loss due to the degeneration of retinal ganglion cells, resulting in optic nerve degeneration and atrophy. Although the genetic origin of the main isolated and syndromic hereditary optic neuropathies have been characterized, the clinical phenotypes […]

Selected Brain Metabolites and Mitochondrial DNA Copy Number as Potential Markers of Ongoing Neurodegeneration in Patients with Wolfram Syndrome

Metabolites. 2026 Apr 20;16(4):281. doi: 10.3390/metabo16040281. ABSTRACT Background: Wolfram syndrome (WFS) is a rare neurodegenerative disease that is genetically determined and inherited in an autosomal recessive manner. Although the first clinical symptom appearing in early childhood is diabetes mellitus, subsequent symptoms are associated with optic nerve atrophy, followed by central nervous system atrophy. Methods: The […]