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 […]
Bilateral diabetic Charcot neuroarthropathy of the knee in a young woman with diabetes suspected of Wolfram-like syndrome
Diabetol Int. 2026 Apr 22;17(3):41. doi: 10.1007/s13340-026-00895-5. eCollection 2026 Jul. ABSTRACT We described a very rare case of bilateral diabetic Charcot neuroarthropathy of the knee in a young woman who may have Wolfram-like syndrome. The onset of diabetes occurred at the age of 11. At the age of 26, she consulted an orthopedic surgeon for […]
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 […]
Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy
Orphanet J Rare Dis. 2026 Apr 18. doi: 10.1186/s13023-026-04348-9. Online ahead of print. NO ABSTRACT PMID:42001184 | DOI:10.1186/s13023-026-04348-9
WFS1 gene delivery rescues visual function in a mouse model of Wolfram syndrome
Acta Neuropathol Commun. 2026 Apr 18. doi: 10.1186/s40478-026-02295-x. Online ahead of print. NO ABSTRACT PMID:41998758 | DOI:10.1186/s40478-026-02295-x
The Valdivia Project: genetic characterization of a unique Wolfram Syndrome cluster in coastal Ecuador
Orphanet J Rare Dis. 2026 Apr 17. doi: 10.1186/s13023-026-04344-z. Online ahead of print. NO ABSTRACT PMID:41998697 | DOI:10.1186/s13023-026-04344-z
Evaluating the Use of GLP-1 Receptor Agonists in Wolfram syndrome Patients
medRxiv [Preprint]. 2026 Apr 2:2026.03.31.26349885. doi: 10.64898/2026.03.31.26349885. ABSTRACT Wolfram syndrome is a rare autosomal recessive disorder caused by pathogenic variants in the WFS1 gene, characterized by early-onset diabetes mellitus, optic atrophy, sensorineural hearing loss, arginine vasopressin deficiency, and progressive neurodegeneration. The condition selectively affects pancreatic β cells and neurons via chronic endoplasmic reticulum (ER) stress, […]
Type 2 Diabetes Mellitus or Maturity Onset Diabetes in the Young Due to Wolfram Syndrome Gene-1 Mutation-A Perplexing Case
AACE Endocrinol Diabetes. 2025 Nov 4;13(2):189-192. doi: 10.1016/j.aed.2025.10.023. eCollection 2026 Mar-Apr. ABSTRACT BACKGROUND/OBJECTIVE: Maturity Onset Diabetes in the Young (MODY) is the most common form of monogenic diabetes caused by various single gene mutations. We present a patient with presumed type 2 diabetes mellitus (T2DM), ultimately diagnosed with MODY due to heterozygous Wolfram Syndrome 1 […]
Medicinal Chemistry Review of the NEET Protein Family
ChemMedChem. 2026 Apr 14;21(7):e202500969. doi: 10.1002/cmdc.202500969. ABSTRACT Members of the NEET family of proteins are of interest as drug targets in several age-related diseases, including cancer, diabetes, obesity, Alzheimer’s and Parkinson’s disease, stroke, and traumatic brain injury. These proteins share a CDGSH motif and redox-active [2Fe-2S] clusters. MitoNEET (CDGSH iron-sulfur domain-containing protein 1) is an […]