Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review
Brain Sci. 2023 Jul 5;13(7):1030. doi: 10.3390/brainsci13071030. ABSTRACT Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness. Wolfram syndrome, however, is phenotypically heterogenous with variable clinical manifestations and age of onset. […]
Therapy resistant urticaria as a long-term symptom of an incomplete Schnitzler syndrome
Allergy Asthma Clin Immunol. 2023 Jul 26;19(1):64. doi: 10.1186/s13223-023-00819-x. ABSTRACT BACKGROUND: Recurring therapy resistant hives, accompanied by IgM-gammopathy, fever and joint pain can indicate Schnitzler syndrome, a rare autoimmune disorder. There is currently no approved treatment, but complete remission of symptoms can be induced with IL-1 antagonists. CASE PRESENTATION: A patient with a history of […]
Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis
Healthcare (Basel). 2023 Jun 29;11(13):1888. doi: 10.3390/healthcare11131888. ABSTRACT Wolfram syndrome (WS) is a rare neurodegenerative disease usually of autosomal recessive origin. There is limited research about sensorineural hearing loss, despite it being a fundamental entity. It is important to broaden the study of this disease and specify a set of tests required for an adequate […]
Selective proteasome degradation of C-terminally-truncated human WFS1 in pancreatic beta cells
FEBS Open Bio. 2023 Jul 13. doi: 10.1002/2211-5463.13674. Online ahead of print. ABSTRACT Wolfram Syndrome is a monogenic disease mainly caused by mutations in the WFS1 gene. Mutations in the WFS1 gene give rise to diabetes. Here, we characterized mutant WFS1 proteins by studying the stability of full-length wild-type WFS1, a missense mutant P724L, and […]
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders
Front Genet. 2023 Jun 21;14:1198171. doi: 10.3389/fgene.2023.1198171. eCollection 2023. ABSTRACT Objective: Wolfram syndrome (WFS) is an autosomal recessive disorder associated with juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss. We sought to elucidate the relationship between genotypic and phenotypic presentations of Wolfram syndrome which would assist clinicians in classifying the severity and […]
Wolfram syndrome 1 regulates sleep in dopamine receptor neurons by modulating calcium homeostasis
PLoS Genet. 2023 Jul 3;19(7):e1010827. doi: 10.1371/journal.pgen.1010827. Online ahead of print. ABSTRACT Sleep disruptions are quite common in psychological disorders, but the underlying mechanism remains obscure. Wolfram syndrome 1 (WS1) is an autosomal recessive disease mainly characterized by diabetes insipidus/mellitus, neurodegeneration and psychological disorders. It is caused by loss-of function mutations of the WOLFRAM SYNDROME […]
Wfs1E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production
Cell Death Dis. 2023 Jun 29;14(6):387. doi: 10.1038/s41419-023-05912-y. ABSTRACT Wolfram syndrome (WS) is a rare neurodegenerative disorder encompassing diabetes mellitus, diabetes insipidus, optic atrophy, hearing loss (HL) as well as neurological disorders. None of the animal models of the pathology are presenting with an early onset HL, impeding the understanding of the role of Wolframin […]
Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?
Front Endocrinol (Lausanne). 2023 Jun 13;14:1155644. doi: 10.3389/fendo.2023.1155644. eCollection 2023. ABSTRACT AIMS: Wolfram Syndrome Spectrum Disorder (WFS1-SD), in its “classic” form, is a rare autosomal recessive disease with poor prognosis and wide phenotypic spectrum. Insulin dependent diabetes mellitus (DM), optic atrophy (OA) diabetes insipidus (DI) and sensorineural deafness (D) are the main features of WFS1-SD. […]
Culprit plaque morphology determines inflammatory risk and clinical outcomes in acute coronary syndrome
Eur Heart J. 2023 Jun 29:ehad334. doi: 10.1093/eurheartj/ehad334. Online ahead of print. ABSTRACT AIMS: Rupture of the fibrous cap (RFC) and erosion of an intact fibrous cap (IFC) are the two predominant mechanisms causing acute coronary syndromes (ACS). It is uncertain whether clinical outcomes are different following RFC-ACS vs. IFC-ACS and whether this is affected […]
GLP-1 receptor agonists as promising disease-modifying agents in WFS1 spectrum disorder
Front Clin Diabetes Healthc. 2023 Jun 2;4:1171091. doi: 10.3389/fcdhc.2023.1171091. eCollection 2023. ABSTRACT WFS1 spectrum disorder (WFS1-SD) is a rare monogenic neurodegenerative disorder whose cardinal symptoms are childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological signs ranging from mild to severe. The prognosis is poor as most patients die prematurely with severe neurological disabilities […]