Results 51 to 60 of about 384 (136)
Clinical Case Reports, Volume 13, Issue 12, December 2025.MRI brain revealing features consistent with central diabetes insipidus (Figure A), pontine atrophy (Figure B), and bilateral optic nerve atrophy (Figure C) in a young, non‐autoimmune diabetic patient: imaging clue to Wolfram syndrome. ABSTRACT Wolfram syndrome is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes ...
Sushrut Ingawale +4 more
wiley +1 more source
No association of mutations and mRNA expression of WFS1/wolframin with bipolar disorder in humans
Neuroscience Letters, 2003 Association of WFS1 (wolframin) and bipolar disorder has been suggested by psychiatric manifestations in patients or non-symptomatic carriers of Wolfram disease and linkage of bipolar disorder with 4p16, the locus of WFS1. Five studies of WFS1 in bipolar disorder did not support this association, although possible association of several missense ...
Tadafumi, Kato +8 more
openaire +3 more sources
Cell Communication and Signaling, 2021 Background Wolfram syndrome (WFS) is a rare autosomal recessive syndrome in which diabetes mellitus and neurodegenerative disorders occur as a result of Wolframin deficiency and increased ER stress.
Agnieszka Zmyslowska +16 more
doaj +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel +10 more
wiley +1 more source
, 2021 Abnormally phosphorylated tau, an early neuropathologic marker of Alzheimer’s disease (AD), first occurs in the brain’s entorhinal cortex layer II (ECII) and then spreads to the CA1 field of the hippocampus.
IKEZU, Tsuneya +10 more
core +1 more source
Structural development and dorsoventral maturation of the medial entorhinal cortex
eLife, 2016 We investigated the structural development of superficial-layers of medial entorhinal cortex and parasubiculum in rats. The grid-layout and cholinergic-innervation of calbindin-positive pyramidal-cells in layer-2 emerged around birth while reelin ...
Saikat Ray, Michael Brecht
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Orphanet Journal of Rare Diseases, 2022 Background We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative syndrome including distichiasis.
Lauriane Le Collen +15 more
doaj +1 more source
Human Psychopharmacology: Clinical and Experimental, Volume 40, Issue 5, September 2025.ABSTRACT Loss of function mutations in the WFS1 gene cause Wolfram syndrome, which is characterized by juvenile‐onset diabetes mellitus, diabetes insipidus, neurodegeneration, hearing loss and optic nerve atrophy. Psychiatric symptoms, including major depression and suicidal behavior, are common in this disorder.
Hans O. Kalkman, Lukasz Smigielski
wiley +1 more source
The role of Wolframin in the pathogenesis of Wolfram or Didmoad syndrome [PDF]
, 2003 The Wolfram Syndrome (WS) is an autosomal recessive neurodegenerative disorder characterised by insulin-dependent diabetes mellitus (IDDM) and bilateral progressive optic atrophy. Manifestations in neural and neuroendocrine tissues generally arise, but are not a requirement for diagnosis.
openaire +1 more source
Scientific Reports, 2021 Wolfram syndrome (WS) is an ultra-rare progressive neurodegenerative disorder defined by early-onset diabetes mellitus and optic atrophy. The majority of patients harbour recessive mutations in the WFS1 gene, which encodes for Wolframin, a transmembrane ...
G. Cairns +9 more
doaj +1 more source