Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders
medRxiv. 2023 Feb 16:2023.02.15.23284904. doi: 10.1101/2023.02.15.23284904. Preprint. 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 prognosis of […]
Case Report: A novel mutation in WFS1 gene (c.1756G>A p.A586T) is responsible for early clinical features of cognitive impairment and recurrent ischemic stroke
Front Genet. 2023 Feb 2;14:1072978. doi: 10.3389/fgene.2023.1072978. eCollection 2023. ABSTRACT Wolfram syndrome 1 (WFS1) gene mutations can be dominantly or recessively inherited, and the onset of the clinical picture is highly heterogeneity in both appearance and degree of severity. Different types of WFS1 mutations have been identified. Autosomal recessive mutations in the WFS1 gene will […]
Enhancement of taste by retronasal odors in patients with Wolfram Syndrome and decreased olfactory function
Chem Senses. 2023 Feb 17:bjad004. doi: 10.1093/chemse/bjad004. Online ahead of print. ABSTRACT Wolfram syndrome is a rare disease characterized by diabetes, neurodegeneration, loss of vision, and audition. We recently found, in a young sample of participants (mean age 15 yrs), that Wolfram syndrome was associated with impairment in smell identification with normal smell sensitivity and […]
Advances in diagnosis and treatment of Wolfram syndrome and related molecular mechanism
Zhonghua Yu Fang Yi Xue Za Zhi. 2023 Feb 6;57(2):293-300. doi: 10.3760/cma.j.cn112150-20220209-00114. ABSTRACT Wolfram syndrome is a rare genetic spectrum disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, accompanied by other variable clinical manifestations. At present, the prognosis of this syndrome is very poor, the specific molecular mechanism is not clear, effective […]