Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives

MT Pallotta, G Tascini, R Crispoldi, C Orabona… - Journal of translational …, 2019 - Springer
Background Wolfram syndrome (WS), a rare genetic disorder, is considered the best
prototype of endoplasmic reticulum (ER) diseases. Classical WS features are childhood …

Wolfram syndrome 1: from genetics to therapy

L Rigoli, V Caruso, G Salzano, F Lombardo - International journal of …, 2022 - mdpi.com
Wolfram syndrome 1 (WS1) is a rare neurodegenerative disease transmitted in an
autosomal recessive mode. It is characterized by diabetes insipidus (DI), diabetes mellitus …

Wolfram syndrome and WFS1 gene

L Rigoli, F Lombardo, C Di Bella - Clinical genetics, 2011 - Wiley Online Library
Rigoli L, Lombardo F, Di Bella C. Wolfram syndrome and WFS1 gene. Wolfram syndrome
(WS)(MIM 222300) is a rare multisystem neurodegenerative disorder of autosomal recessive …

Phenotypic characteristics of early Wolfram syndrome

BA Marshall, MA Permutt, AR Paciorkowski… - Orphanet journal of rare …, 2013 - Springer
Abstract Background Wolfram Syndrome (WFS: OMIM 222300) is an autosomal recessive,
progressive, neurologic and endocrinologic degenerative disorder caused by mutations in …

Wolfram syndrome: diagnosis, management, and treatment

F Urano - Current diabetes reports, 2016 - Springer
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes
mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration …

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 …

[HTML][HTML] Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

ML de Heredia, R Clèries, V Nunes - Genetics in Medicine, 2013 - Elsevier
Purpose Wolfram syndrome is a degenerative, recessive rare disease with an onset in
childhood. It is caused by mutations in WFS1 or CISD2 genes. More than 200 different …

Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

L Rigoli, P Bramanti, C Di Bella, F De Luca - Pediatric Research, 2018 - nature.com
Abstract Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative
disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and …

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees

M Gómez-Zaera, TM Strom, B Rodrıguez… - Molecular Genetics and …, 2001 - Elsevier
Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disease mainly
characterized by familial diabetes mellitus and optic atrophy. WS patients frequently present …

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 …