Category: Wolfram syndrome

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. […]

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 […]

Repetitive Suicidal Behaviors in a Case With a New Mutation of Wolfram Syndrome: A Jump From the Gene to the Behavior

Basic Clin Neurosci. 2022 Nov-Dec;13(6):893-900. doi: 10.32598/bcn.2021.910.3. Epub 2022 Nov 1. ABSTRACT Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease with variable symptoms, including neuropsychiatric manifestations. A 26-year-old man was reported with classic symptoms of WS and repetitive psychiatric hospitalizations and at least 16 suicidal attempts. The genetic study demonstrated a novel homozygous […]