ReviewPediatric research2018
Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.
Review in Pediatric research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 68 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
68 citing papers in PubMed, 2 syntheses or guidelines pooled it, 107 citations in OpenAlex.
- WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.BMC medical genomics · 2023Pooled it
- Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.International journal of environmental research and public health · 2022Pooled it
- Deletion ofBiology · 2026Article
- Genotype-Based Severity Scoring System in Wolfram Syndrome: Correlation with Onset of Cardinal Symptoms andmedRxiv : the preprint server for health sciences · 2026Article
- Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.Orphanet journal of rare diseases · 2026Article
- Pregnancy and Peripartum Multidisciplinary Management in Wolfram Syndrome Type 1: A Case Report.Diagnostics (Basel, Switzerland) · 2026Article
- WFS1-related isolated diabetes induced by a WFS1 missense mutation: focus on the isolated diabetes phenotype.Orphanet journal of rare diseases · 2026Article
- Genotype-based severity scoring system in Wolfram Syndrome: correlation with onset of cardinal symptoms andFrontiers in genetics · 2026Article
- Could R-Ketamine and Wolfram Syndrome Inform Understanding of Depression and Suicidality? A Sigma-1 Receptor-Based Perspective.Human psychopharmacology · 2025Review
- Signatures of selection detected from whole-genome sequencing indicate that the small body size in dwarf rabbit breeds is caused by polygenic effects with a few major loci.Animal genetics · 2025Article
- Article
- Gonadal Dysfunction in Wolfram Syndrome: A Prospective Study.Diagnostics (Basel, Switzerland) · 2025Article
- Neuroprotective and Anti-Inflammatory Activity ofMarine drugs · 2025Article
- Associations Between Diabetes Mellitus and Neurodegenerative Diseases.International journal of molecular sciences · 2025Review
- A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome.Diabetologia · 2025Article
- Linking epigenetic mechanisms of T cell dysfunction with pathophysiology of type 1 diabetes mellitus.Frontiers in immunology · 2025Review
- Case Report: Rapid cataract development preceding diabetes mellitus inFrontiers in ophthalmology · 2025Article
- Identification of a pathogenic founder variant in theFrontiers in pediatrics · 2025Article
- A Rare Case of Wolfram Syndrome Presenting With Tuberculous Meningitis: A Case Report.Clinical case reports · 2025Article
- Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.Frontiers in neurology · 2025Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in death before the age of 50 years. The pathogenesis of WS1 is ascribed to mutations of human WFS1 gene on chromosome 4p encoding a transmembrane protein called wolframin, which has physiological functions in membrane trafficking, secretion, processing, and/or regulation of ER calcium homeostasis. Different types of WFS1 mutations have been identified, and some of these have been associated with a dominant, severe type of WS. Mutations of CISD2 gene cause autosomal recessive Wolfram syndrome 2 (WS2) characterized by the absence of diabetes insipidus and psychiatric disorders, and by bleeding upper intestinal ulcer and defective platelet aggregation. Other WFS1-related disorders such as DFNA6/14/38 nonsyndromic low-frequency sensorineural hearing loss and Wolfram syndrome-like disease with autosomal dominant transmission have been described. WS1 is a devastating disease for the patients and their families. Thus, early diagnosis is imperative to enable proper prognostication, prevent complications, and reduce the transmission to further progeny. Although there is currently no effective therapy, potential new drugs have been introduced, attempting to improve the progression of this fatal disease.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.