Beyond Vision and Hearing: A Case Report of Wolfram Syndrome
Cureus. 2024 Jul 22;16(7):e65107. doi: 10.7759/cureus.65107. eCollection 2024 Jul. ABSTRACT Wolfram syndrome (WFS) is an uncommon autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, diabetes insipidus, optic nerve degeneration, hearing impairment, and other abnormalities. Additionally, a portion of individuals experience neurological, endocrine, behavioral, and urinary tract disorders that make management more challenging. Here, we present […]
Continuous glycemic monitoring in managing diabetes in adult patients with wolfram syndrome
Acta Diabetol. 2024 Aug 3. doi: 10.1007/s00592-024-02350-w. Online ahead of print. ABSTRACT AIMS: In this study we evaluated the use of Continuous Glucose Monitoring system in adults with insulin-dependent diabetes in the course of Wolfram syndrome (WFS) in comparison to patients with type 1 diabetes (T1D). METHODS: Individuals with WFS (N = 10) used continuous […]
Family Planning in Genetic Optic Atrophies in Israel, a Case Series and a Discussion of Ethical Considerations
J Neuroophthalmol. 2024 Jul 31. doi: 10.1097/WNO.0000000000002232. Online ahead of print. ABSTRACT BACKGROUND: Patients with genetic optic atrophies must navigate all stages of life with their visual impairment, including the important milestone of family planning. Advances in genetic testing now allows physicians and affected families to consider medical help with the aim of preventing blindness […]
Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants
Medicina (Kaunas). 2024 Jun 28;60(7):1064. doi: 10.3390/medicina60071064. ABSTRACT Background and Objectives: Wolfram syndrome type 1 (OMIM# 222300; ORPHAcode 3463) is an extremely rare autosomal recessive syndrome with a 25% recurrence risk in children. It is characterized by the presence of juvenile-onset diabetes mellitus (DM), progressive optic atrophy (OA), diabetes insipidus (DI), and sensorineural deafness (D), […]
ER calcium depletion as a key driver for impaired ER-to-mitochondria calcium transfer and mitochondrial dysfunction in Wolfram syndrome
Nat Commun. 2024 Jul 21;15(1):6143. doi: 10.1038/s41467-024-50502-x. ABSTRACT Wolfram syndrome is a rare genetic disease caused by mutations in the WFS1 or CISD2 gene. A primary defect in Wolfram syndrome involves poor ER Ca2+ handling, but how this disturbance leads to the disease is not known. The current study, performed in primary neurons, the most […]
Identification of unique cell type responses in pancreatic islets to stress
Nat Commun. 2024 Jul 2;15(1):5567. doi: 10.1038/s41467-024-49724-w. ABSTRACT Diabetes involves the death or dysfunction of pancreatic β-cells. Analysis of bulk sequencing from human samples and studies using in vitro and in vivo models suggest that endoplasmic reticulum and inflammatory signaling play an important role in diabetes progression. To better characterize cell type-specific stress response, we […]
Sequential Presentation of Obsessive-Compulsive Disorder and Narcolepsy in a 10-Year-Old Girl With Wolfram Syndrome 1
J Nerv Ment Dis. 2024 Jul 1;212(7):403-405. doi: 10.1097/NMD.0000000000001784. ABSTRACT Wolfram syndrome 1 (WS1) is a rare, autosomal recessive neurodegenerative disorder characterized by diabetes insipidus, insulin-dependent diabetes mellitus, optic atrophy, and deafness resulting from loss-of-function genetic variants in the WFS1 gene. Individuals with WS1 manifest a spectrum of neuropsychiatric disorders. Here, we report a pediatric […]
Optic Nerve T2 Signal Intensity and Caliber Reflect Clinical Severity in Genetic Optic Atrophy
J Neuroophthalmol. 2024 Jun 17. doi: 10.1097/WNO.0000000000002191. Online ahead of print. ABSTRACT BACKGROUND: Genetic optic atrophies comprise phenotypically heterogenous disorders of mitochondrial function. We aimed to correlate quantitative neuroimaging findings of the optic nerves in these disorders with clinical measures. METHODS: From a retrospective database of 111 patients with bilateral optic atrophy referred for genetic […]
An adolescent male with persistent urinary symptoms
Pediatr Nephrol. 2024 Jun 6. doi: 10.1007/s00467-024-06424-3. Online ahead of print. ABSTRACT An 11-year-old male child who presented with increased frequency of urination, thirst and feeling of incomplete void was initially diagnosed with diabetes mellitus (DM) based on elevated blood sugar. Polyuria and polydipsia were confirmed even after normalisation of blood sugar. A standardised water […]
Multimodal imaging in autosomal dominant Wolfram syndrome and long-term follow-up of laminations of the outer plexiform layer
Eye (Lond). 2024 May 14. doi: 10.1038/s41433-024-03114-0. Online ahead of print. NO ABSTRACT PMID:38745083 | DOI:10.1038/s41433-024-03114-0