Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses

A Samara, R Rahn, O Neyman, KY Park… - Orphanet Journal of …, 2019 - Springer
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2
genes leading to brain structural abnormalities and neurological symptoms. These …

Clinical spectrum associated with Wolfram syndrome type 1 and type 2: a review on genotype–phenotype correlations

M Delvecchio, M Iacoviello, A Pantaleo… - International Journal of …, 2021 - mdpi.com
Wolfram syndrome is a rare neurodegenerative disorder that is typically characterized by
diabetes mellitus and optic atrophy. Other common features are diabetes insipidus and …

Neurologic features and genotype‐phenotype correlation in Wolfram syndrome

A Chaussenot, S Bannwarth, C Rouzier… - Annals of …, 2011 - Wiley Online Library
Objective Wolfram syndrome (WS) is a rare neurodegenerative disorder characterized by
juvenile‐onset diabetes mellitus and optic atrophy. Our aim was to describe the nature and …

Early brain vulnerability in Wolfram syndrome

T Hershey, HM Lugar, JS Shimony, J Rutlin, JM Koller… - PloS one, 2012 - journals.plos.org
Wolfram Syndrome (WFS) is a rare autosomal recessive disease characterized by insulin-
dependent diabetes mellitus, optic nerve atrophy, diabetes insipidus, deafness, and …

[PDF][PDF] Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists.

S Kumar - Pediatric diabetes, 2010 - academia.edu
The prevalence of the syndrome on the basis of the nationwide study in UK (published by
Barrett etal.) was estimated to be around 1 in 770 000 individuals. The prevalence in …

Mitochondrial retinopathies and optic neuropathies: the impact of retinal imaging on modern understanding of pathogenesis, diagnosis, and management

E Borrelli, F Bandello, CJF Boon, V Carelli… - Progress in Retinal and …, 2024 - Elsevier
Advancements in ocular imaging have significantly broadened our comprehension of
mitochondrial retinopathies and optic neuropathies by examining the structural and …

Wolfram syndrome type 2: a systematic review of a not easily identifiable clinical spectrum

FM Rosanio, F Di Candia, L Occhiati, L Fedi… - International journal of …, 2022 - mdpi.com
Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder that is
characterized by the presence of diabetes mellitus, optic atrophy and hearing loss, all of …

Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness) clinical and genetic study

G d'Annunzio, N Minuto, E D'Amato, T De Toni… - Diabetes …, 2008 - Am Diabetes Assoc
OBJECTIVE—Wolfram syndrome is an autosomal recessive neurodegenerative disorder
characterized by diabetes insipidus, diabetes (nonautoimmune), optic atrophy, and …

The pattern of retinal ganglion cell loss in Wolfram syndrome is distinct from mitochondrial optic neuropathies

P Barboni, G Amore, ML Cascavilla, M Battista… - American Journal of …, 2022 - Elsevier
PURPOSE To describe the clinical phenotype of a cohort of patients with Wolfram syndrome
(WS), focusing on the pattern of optic atrophy correlated with brain magnetic resonance …

Endocrine and metabolic aspects of the Wolfram syndrome

G Boutzios, S Livadas, E Marinakis, N Opie… - Endocrine, 2011 - Springer
Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus,
Optic Atrophy and Deafness), is a neurodegenerative disease with autosomal recessive …