Wolfram Syndrome

Wolfram syndrome is a rare neurodegenerative and genetic disorder, which should be suspected in patients with young onset non-immune insulin dependent diabetes mellitus and optic atrophy. Patients are most likely to develop diabetes insipidus, deafness, urinary tract, and neurological abnormalities. 60% of the people with Wolfram syndrome die at age 35, usually due to central respiratory center failure following brain stem atrophy. Though there is no treatment to reverse the underlying mechanism of neurodegeneration, early diagnosis and adequate hormonal replacement could improve quality of life and survival.

• Publication year

  2010

• Venue

  Journal of Association of Physicians of India

• Publication date

  2010-03-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.15844/pedneurbriefs-6-7-1PMID 18697639
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Mitochondrial abnormalities drive cell death in Wolfram syndrome 2

  2009cited by this paper
• Current Developments in Wolfram Syndrome

  2009cited by this paper
• A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.

  2007cited by this paper
• Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.

  2004cited by this paper
• Urological manifestations of the Wolfram syndrome: observations in 14 patients.

  1999cited by this paper
• MRI of Wolfram syndrome (DIDMOAD)

  1999cited by this paper
• A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

  1998cited by this paper
• Wolfram (DIDMOAD) syndrome.

  1997cited by this paper
• Morbidity and Mortality in the Wolfram Syndrome

  1995cited by this paper
• Mitochondrial abnormalities in the DIDMOAD syndrome

  1992cited by this paper
• Juvenile Onset Diabetes Mellitus, Central Diabetes Insipidus and Optic Atrophy (Wolfram Syndrome) - Neurological Findings and Prognostic Implications

  1991cited by this paper
• Psychiatric disorders in 36 families with Wolfram syndrome.

  1991cited by this paper
• Vasopressin secretion in the DIDMOAD (Wolfram) syndrome.

  1989cited by this paper
• Thiamine-responsive anemia in DIDMOAD syndrome.

  1989cited by this paper
• Wolfram syndrome with limited joint mobility.

  1987cited by this paper
• DIABETES MELLITUS AND SIMPLE OPTIC ATROPHY AMONG SIBLINGS: REPORT OF FOUR CASES

  1938cited by this paper

• 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

  2023cites this paper
• Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome

  2022cites this paper
• Current Drug Repurposing Strategies for Rare Neurodegenerative Disorders

  2021cites this paper
• Molecular mechanisms of β-cell dysfunction and death in monogenic forms of diabetes.

  2021cites this paper
• Function of WFS1 and WFS2 in the Central Nervous System: Implications for Wolfram Syndrome and Alzheimer's Disease.

  2020cites this paper
• Genetic Abnormalities of the Retina and Choroid

  2019cites this paper
• Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila

  2018cites this paper
• Neuroimaging evidence of deficient axon myelination in Wolfram syndrome

  2016cites this paper
• and interferes with the growth hormone pathway Wfs1 gene deletion causes growth retardation in mice

  2015cites this paper
• Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndrome

  2015cites this paper
• Magnetic resonance imaging of optic nerve

  2015cites this paper
• Central Nervous System PET-CT Imaging Reveals Regional Impairments in Pediatric Patients with Wolfram Syndrome

  2014cites this paper
• Psychotic manifestation in a patient with Wolfram syndrome(DIDMOAD)

  2014cites this paper
• Impairment of Visual Function and Retinal ER Stress Activation in Wfs1-Deficient Mice

  2014cites this paper
• mitochondrial damage pathways related to neurodegeneration and gene in HEK cells induces WFS1 Silencing of the

  2013cites this paper
• Retinal Nerve Fiber Layer Thickness Analysis with Optical Coherence Tomography in

  2013cites this paper
• Silencing of the WFS1 gene in HEK cells induces pathways related to neurodegeneration and mitochondrial damage.

  2013cites this paper
• Early presentation of gait impairment in Wolfram Syndrome

  2012cites this paper
• A clinical case study of a Wolfram syndrome–affected family: pattern-reversal visual evoked potentials and electroretinography analysis

  2012cites this paper
• The subtle signs of Wolfram (DIDMOAD) syndrome: not all juvenile diabetes is type 1 diabetes

  2011cites this paper
• CHAPTER 42 – The Immunoendocrinopathy Syndromes

  2011cites this paper
• Hypothalamic gene expression profile indicates a reduction in G protein signaling in the Wfs1 mutant mice.

  2011cites this paper
• Stress hypERactivation in the β-cell

  2010cites this paper
• Optic Atrophy in Children

  2010cites this paper
• Mechanisms Associated with Aging and Age- Related Disease in Drosophila

  2010cites this paper
• Wolfram syndrome 1 (Wfs1) mRNA expression in the normal mouse brain during postnatal development.

  2009cites this paper
• Expression and localization of Wolfram syndrome 1 gene in the developing rat pancreas.

  2009cites this paper
• Current Developments in Wolfram Syndrome

  2009cites this paper
• Understanding type 1 diabetes genetics - approaches for identification of susceptibility genes in multi-factorial diseases.

  2009cites this paper
• Wolfram syndrome — clinical and diagnostic details

  2009cites this paper
• Sndrome de Wolfram. Estudio clnico y gentico en dos familias

  2008cites this paper
• The wolframin His611Arg polymorphism influences medication overuse headache.

  2007cites this paper
• Ataxie cérébelleuse révélant un syndrome de Wolfram

  2007cites this paper
• Imaging of the brain in children with type I diabetes mellitus

  2007cites this paper
• Síndrome de Wolfram: da definição às bases moleculares

  2006cites this paper
• Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome.

  2005cites this paper
• Sellar and Suprasellar Disorders

  2005cites this paper
• Inherited Diseases of the Optic Nerve

  2005cites this paper
• Mutatsioonid Wfs1 geenis põhjustavad haruldast geneetilist haigust - Wolfram’i sündroomi (MIM #222300). See on pärilik haigus, mida iseloomustab juveniilne mitteautoimmuunne suhkrudiabeet, magediabeet, nägemisnärvi atrofeerumine ja kurtus (DIDMOAD – diabetes insipidus, diabetes mellitus, optic

  2004cites this paper
• Radiological findings in Wolfram syndrome.

  2004cites this paper
• Multicentre Italian family‐based association study on tyrosine hydroxylase, catechol‐O‐methyl transferase and Wolfram syndrome 1 polymorphisms in mood disorders

  2003cites this paper
• Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

  2003cites this paper
• Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature

  2003cites this paper
• Wolframin Expression Induces Novel Ion Channel Activity in Endoplasmic Reticulum Membranes and Increases Intracellular Calcium*

  2003cites this paper
• Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.

  2003cites this paper
• Síndrome de Wolfram. Implicaciones urológicas.

  2000cites this paper
• Síndrome de Wolfram. A Propósito de Um Caso Clínico

  1999cites this paper
• A case of Wolfram syndrome in triplets: Some newly recognized features.

  1999cites this paper
• The Molecular Basis of Inherited Diabetes Insipidus

  1999cites this paper
• Wolfram症候群における聴性脳幹反応(ABR)の変化

  1998cites this paper
• Optic atrophy in Wolfram (DIDMOAD) syndrome

  1997cites this paper