Wolfram syndrome
View article: Novel Kruppel-like factor 11 variant of maturity-onset diabetes of the young type 7: A case report
Novel Kruppel-like factor 11 variant of maturity-onset diabetes of the young type 7: A case report Open
BACKGROUND Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes often misdiagnosed as type 1 or type 2. The MODY7 subtype, attributed to variants in the Kruppel-like factor 11 (KLF11 ) gene, is exceedingly rare, and …
View article: Multifaceted diabetes: а clinical case
Multifaceted diabetes: а clinical case Open
DIDMOAD syndrome (Wolfram syndrome type 1 is an orphan multisystem mitochondrial dysfunction, the name of which is an acronym for the combination of the following nosologies: Diabetes Insipidus (DI), Diabetes Mellitus (DM), Optic Atrophy (…
View article: Schaaf-Yang syndrome - a rare cause of hypopituitarism and central diabetes insipidus
Schaaf-Yang syndrome - a rare cause of hypopituitarism and central diabetes insipidus Open
View article: MENTAL HEALTH BURDEN IN RARE DISEASES: DEPRESSION AND EMOTIONAL SUPPORT NEEDS IN WOLFRAM SYNDROME PATIENTS
MENTAL HEALTH BURDEN IN RARE DISEASES: DEPRESSION AND EMOTIONAL SUPPORT NEEDS IN WOLFRAM SYNDROME PATIENTS Open
This article analyzes the mental health burden in patients with Wolfram Syndrome (WS), a rare neurodegenerative disorder, based on data collected by the Brazilian Association of Wolfram Syndrome (ABSW). WS is characterized by diabetes mell…
View article: Two brothers with late onset Wolfram syndrome
Two brothers with late onset Wolfram syndrome Open
Wolfram syndrome (OMIM #222300) is a rare cause of diabetes mellitus. Mutations in the WFS1 (Wolfram Syndrome-1) gene lead to diabetes mellitus, as well as deafness, neurological symptoms, urological and endocrinological disorders. We desc…
View article: Long-term follow-up of pancreatic islet transplantation in a patient with Wolfram syndrome: a case report
Long-term follow-up of pancreatic islet transplantation in a patient with Wolfram syndrome: a case report Open
View article: A Case of Sanfilippo Syndrome Type C and Wolfram Syndrome Type 1 and the Role of Next-Generation Sequencing in Diagnosis
A Case of Sanfilippo Syndrome Type C and Wolfram Syndrome Type 1 and the Role of Next-Generation Sequencing in Diagnosis Open
Mucopolysaccharidosis IIIC (MPS IIIC) and Wolfram syndrome type 1 (WS1) are rarely seen autosomal recessive disorders with overlapping clinical features. This case report aims to highlight the role of next-generation sequencing (NGS) in di…
View article: Wolfram-like Syndrome: Shedding Light on a Variant of Wolfram Syndrome
Wolfram-like Syndrome: Shedding Light on a Variant of Wolfram Syndrome Open
Early recognition of Wolfram-like syndrome in atypical presentations is critical for appropriate management and patient counseling. The objective of this report is to describe a case of Wolfram-like syndrome with unusually late onset, unde…
View article: Case report: hyponatraemia in Wolfram syndrome
Case report: hyponatraemia in Wolfram syndrome Open
Introduction: The Wolfram or DIDMOAD (diabetes Insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is characterised by arginine-vasopressin deficiency, diabetes mellitus, optic atrophy and deafness, with cognitive and psych…
View article: Pietron, Josef: Geistige Schriftauslegung und biblische Predigt
Pietron, Josef: Geistige Schriftauslegung und biblische Predigt Open
View article: The significance of ophthalmological evaluation in the correct diagnosis of pediatric insulin-dependent diabetes mellitus: lessons from novel WFS1 variants
The significance of ophthalmological evaluation in the correct diagnosis of pediatric insulin-dependent diabetes mellitus: lessons from novel WFS1 variants Open
Wolfram syndrome 1 is an autosomal recessive disorder often commencing as insulin dependent diabetes, but with inherent progressive ultimately fatal neurodegeneration. We report two pediatric cases, referred as unregulated insulin dependen…
View article: Severe Hypoglycemia and Pituitary Stalk Interruption Syndrome in a 5-Year-Old Boy with Coexistent Hyperprolinaemia: A Case Report and Literature Review
Severe Hypoglycemia and Pituitary Stalk Interruption Syndrome in a 5-Year-Old Boy with Coexistent Hyperprolinaemia: A Case Report and Literature Review Open
Background/Objectives: Hyperprolinemia is a rare autosomal recessive disorder with two distinct types: I (HPI) and II (HPII). The clinical presentation varies widely, with some individuals remaining asymptomatic and others exhibiting neuro…
View article: A Hidden Diagnosis: Neurogenic Bladder Leading to Acute Kidney Failure in Wolfram Syndrome
A Hidden Diagnosis: Neurogenic Bladder Leading to Acute Kidney Failure in Wolfram Syndrome Open
View article: Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)—A European cohort perspective
Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)—A European cohort perspective Open
Background WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early‐onset insulin‐depe…
View article: Reciprocal rescue of Wolfram syndrome by two causative genes
Reciprocal rescue of Wolfram syndrome by two causative genes Open
View article: Natural history of patients with autosomal dominant<i>WFS1</i>pathogenic variants associated with sensorineural hearing loss and optic atrophy
Natural history of patients with autosomal dominant<i>WFS1</i>pathogenic variants associated with sensorineural hearing loss and optic atrophy Open
Objective Autosomal dominant pathogenic variants in the WFS1 gene can cause a broad spectrum of WFS1-related disorders. These disorders present with a range of phenotypic manifestations, including isolated low-frequency sensorineural heari…
View article: Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome
Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome Open
Objective Wolfram syndrome (WS) is a genetically disorder that affect on many organs, and neurodegenerative disorder. Although various clinical dysfunctions may have different onset times, they can collectively contribute to delays in the …
View article: Central Diabetes Insipidus in Father and Son Linked to a Rare Variant: A Case Report
Central Diabetes Insipidus in Father and Son Linked to a Rare Variant: A Case Report Open
Introduction: Central diabetes insipidus (CDI) is a rare disorder caused by a deficiency in the secretion of arginine vasopressin (AVP) from the posterior pituitary. It can be either acquired or congenital, often due to genetic factors, an…
View article: Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial
Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial Open
Introduction Wolfram syndrome ( WFS1- Spectrum Disorder) is an ultra-rare monogenic form of progressive neurodegeneration and diabetes mellitus. In common with most rare diseases, there are no therapies to slow or stop disease progression.…
View article: Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population
Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population Open
Context Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder caused by pathogenic variants in the WFS1 gene. It is characterized by central diabetes insipidus, juvenile-onset diabetes mellitus (DM), optic atrophy (OA)…
View article: The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype
The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype Open
Background/Objectives: A heterozygous mutation in the WFS1 gene is responsible for autosomal dominant non-syndromic hearing loss (DFNA6/14/38) and Wolfram-like syndrome, which is characterized by bilateral sensorineural hearing loss with o…
View article: Comprehensive Case Study of Wolfram Syndrome in a 12-Year-Old: Diagnostic Challenges and Multidisciplinary Care
Comprehensive Case Study of Wolfram Syndrome in a 12-Year-Old: Diagnostic Challenges and Multidisciplinary Care Open
Wolfram Syndrome (WS) or DIDMOAD is a rare form of inherited disease of the nervous system, which is categorized by diabetes insipidus, diabetes mellitus optic atrophy, and sensorineural deafness. WS is mentioned in the case of a 12-year-o…
View article: Wolfram Syndrome Presenting with Partial Central Diabetes Insipidus and Neurodegeneration
Wolfram Syndrome Presenting with Partial Central Diabetes Insipidus and Neurodegeneration Open
View article: Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype–Phenotype Correlations
Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype–Phenotype Correlations Open
Background: WFS1-spectrum disorders are caused by a mutation in the WFS1 gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations w…
View article: Early trigeminal and sensory impairment and lysosomal dysfunction in accurate models of Wolfram syndrome
Early trigeminal and sensory impairment and lysosomal dysfunction in accurate models of Wolfram syndrome Open
Wolfram syndrome (WS) is a rare condition caused by homozygous or compound heterozygous mutations in the WFS1 gene primarily. It is diagnosed on the basis of early-onset diabetes mellitus and optic nerve atrophy. Patients complain of trige…
View article: Novel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings
Novel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings Open
Wolfram syndrome (WS), a rare genetic neurodegenerative condition, is primarily characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss, along with diverse systemic manifestations. Late-stage c…
View article: A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome Open
View article: Beyond Wolfram Syndrome 1: The WFS1 Gene’s Role in Alzheimer’s Disease and Sleep Disorders
Beyond Wolfram Syndrome 1: The WFS1 Gene’s Role in Alzheimer’s Disease and Sleep Disorders Open
The WFS1 gene was first identified in Wolfram Syndrome 1 (WS1), a rare autosomal recessive genetic disorder characterized by severe and progressive neurodegenerative changes. WFS1’s role in various cellular mechanisms, particularly in calc…
View article: Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy Open
View article: Beyond Wolfram Syndrome 1: The WFS1 Gene’s Role in Alzheimer’s Disease and Psychiatric Sleep Disorders
Beyond Wolfram Syndrome 1: The WFS1 Gene’s Role in Alzheimer’s Disease and Psychiatric Sleep Disorders Open
The WFS1 gene was first identified in Wolfram Syndrome 1 (WS1), a rare autosomal recessive genetic disorder characterized by severe and progressive neurodegenerative changes. WFS1's role in various cellular mechanisms, particularly in…