Results 31 to 40 of about 1,212,597 (189)

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report

Journal of Medical Case Reports, 2023
Background Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by juvenile onset diabetes, optic nerve atrophy and other systemic manifestations.
Maryem Sahli, Abdelali Zrhidri, Imad Boualaoui, Imane Cherkaoui Jaouad, Youssef El Kadiri, Yassine Nouini, Abdelaziz Sefiani   +6 more
doaj   +1 more source

Wolfram syndrome: Case report [PDF]

, 2015
Wolfram syndrome is a rare neurodegenerative genetic disease, its prevalence is 1/700 000 cases. There are three known types. The first type is due to the mutation of WFS1 (4p16.1) gene.
Atipo-Tsiba, PW, Odzili, FAI
core   +1 more source

A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome

JCI Insight, 2021
BACKGROUND Wolfram syndrome is a rare ER disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration.
Damien Abreu, Stephen I. Stone, Toni S. Pearson, Robert C. Bucelli, Ashley N. Simpson, Stacy Hurst, Cris M. Brown, Kelly Kries, Chinyere Onwumere, Hongjie Gu, James Hoekel, Lawrence Tychsen, Gregory P. Van Stavern, Neil H. White, Bess A. Marshall, Tamara Hershey, Fumihiko Urano   +16 more
doaj   +1 more source

Wolfram syndrome: case report [PDF]

, 2004
Wolfram syndrome consists of the association of diabetes mellitus with optic atrophy. Other common findings are deafness, urinary tract and neurological disorders.
Jane Chen, Sallum, Juliana Maria Ferraz [UNIFESP], Bruno Machado Fontes, Chicani, Carlos Filipe [UNIFESP], Chicani, Carlos Filipe, Carlos Filipe Chicani, Príncipe, André Hasler [UNIFESP], Fontes, Bruno Machado, Chen, Jane, Príncipe, André Hasler, Fontes, Bruno Machado [UNIFESP], Chen, Jane [UNIFESP], Sallum, Juliana M. Ferraz, André Hasler Príncipe, Juliana M. Ferraz Sallum   +14 more
core   +2 more sources

A cost of illness study evaluating the burden of Wolfram syndrome in the United Kingdom

Orphanet Journal of Rare Diseases, 2019
Background Wolfram syndrome is a rare genetic, progressive, neurodegenerative disorder characterised by childhood-onset diabetes mellitus, diabetes insipidus, optic atrophy and deafness.
Sana Eljamel, Wrik Ghosh, Sachin De Stone, Annabel Griffiths, Timothy Barrett, Richard Thompson   +5 more
doaj   +1 more source

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome

BMC Endocrine Disorders, 2021
Background Wolfram syndrome (WFS) is a rare autosomal recessive genetic disease whose main cause is mutations in the WFS1 and CISD2 genes. Its characteristic clinical manifestations are diabetes insipidus, diabetes mellitus, optic atrophy and deafness ...
Ziyu Ren, Jixiu Yi, Min Zhong, Yunting Wang, Qicong Liu, Xuan Wang, Dongfang Liu, Wei Ren   +7 more
doaj   +1 more source

Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease [PDF]

Genes
Luciana Concetta Rigoli, Accursio Raia, Valerio Caruso   +2 more
exaly   +2 more sources

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

Orphanet Journal of Rare Diseases, 2019
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease.
Amjad Samara, Rachel Rahn, Olga Neyman, Ki Yun Park, Ahmad Samara, Bess Marshall, Joseph Dougherty, Tamara Hershey   +7 more
doaj   +1 more source

A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene

American Journal of Ophthalmology Case Reports, 2022
Purpose: Wolfram syndrome is a rare genetic disorder characterized by juvenile onset of diabetes mellitus with bilateral optic atrophy. We report a case of adult onset Wolfram syndrome with diabetes mellitus at age 22 and optic atrophy after age 40.
Jinhee Lee, Takuya Iwasaki, Tomoko Kaida, Hideki Chuman, Akiko Yoshimura, Yuji Okamoto, Hiroshi Takashima, Kazunori Miyata   +7 more
doaj   +1 more source

Evidence of retinal degeneration in Wolfram syndrome [PDF]

, 2018
Purpose: Wolfram syndrome is characterized by early onset diabetes mellitus, diabetes insipidus, deafness, and optic atrophy, but retinal degeneration has not been described as a major component of the phenotype.
Peachey, Neal, Scaramuzzi, Matteo, Traboulsi, Elias I, Kumar, Priyanka, Nucci, Paolo   +4 more
core   +1 more source