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Case series of wolfram syndrome in Uzbekistan

Journal of Clinical and Translational Endocrinology Case Reports
The clinical picture of Wolfram syndrome and the data of 12 patients are described. The diagnosis of Wolfram syndrome takes time, since clinical symptoms appear within several years, and the subsequence of the onset of different components of the ...
Sh.T. Sultanova, A.V. Alieva, Z.A. Salikhova, N.E. Ismoilova, M.A. Akhmedova   +4 more
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Wolfram Syndrome

Pediatric Neurology Briefs, 1992
Two unrelated patients with Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) in whom MRIs of the brain provide evidence of a diffuse neurodegenerative process are reported from the Departments of Neurology and ...
J Gordon Millichap
doaj   +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
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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
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Sleep disturbances in Wolfram syndrome

Orphanet Journal of Rare Diseases, 2019
Background Wolfram syndrome is a rare disorder associated with diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing and vision loss, and neurodegeneration. Sleep complaints are common but have not been studied with objective measures.
Amy Licis, Gabriel Davis, Sarah A. Eisenstein, Heather M. Lugar, Tamara Hershey   +4 more
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Evidence for altered neurodevelopment and neurodegeneration in Wolfram syndrome using longitudinal morphometry

Scientific Reports, 2019
Wolfram syndrome is a rare disease caused by mutations in the WFS1 gene leading to symptoms in early to mid-childhood. Brain structural abnormalities are present even in young children, but it is not known when these abnormalities arise. Such information
Heather M. Lugar, Jonathan M. Koller, Jerrel Rutlin, Sarah A. Eisenstein, Olga Neyman, Anagha Narayanan, Ling Chen, Joshua S. Shimony, Tamara Hershey   +8 more
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Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant

Stem Cell Research, 2023
Pathogenic variants of the WFS1 gene can cause recessive-inherited Wolfram syndrome or dominant-inherited Wolfram-like syndrome with optic atrophy and hearing impairment. Using the Sendai virus delivery system, we generated induced pluripotent stem cells
Yen-Hui Chan, Cheng-Yu Tsai, Chang-Han Ho, Ying-Chang Lu, Pei-Hsuan Lin, Ta-Ching Chen, You-Tzung Chen, Cheng-Yen Huang, Tien-Chen Liu, Chuan-Jen Hsu, Chen-Chi Wu   +10 more
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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

Frontiers in Genetics, 2023
Wolfram syndrome 1 (WFS1) gene mutations can be dominantly or recessively inherited, and the onset of the clinical picture is highly heterogeneity in both appearance and degree of severity.
Yuan Chen, Yuan Chen, Yuan Chen, Miao Zhang, Miao Zhang, Miao Zhang, Yuying Zhou, Yuying Zhou, Yuying Zhou, Pan Li, Pan Li, Pan Li   +11 more
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Wolfram syndrome: Portuguese research

Endokrynologia Polska, 2021
INTRODUCTION: Wolfram syndrome (WFS) is a neurological and endocrinological degenerative disorder, also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy, and Deafness) syndrome.
Cristina Ferreras, Vanessa Gorito, Jorge Pedro, Sofia Ferreira, Carla Costa, Rita Santos Silva, Cintia Castro Correia   +6 more
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A rare case of hypogonadism with Wolfram syndrome in an adult patient: A case report

Journal of Clinical and Translational Endocrinology Case Reports
The Wolfram syndrome is a rare dysmorphogenetic disease of autosomal recessive hereditary nature, characterized by insulin-dependent diabetes mellitus; the disease also has a constellation of other complications contributing to the acronym DIDMOAD ...
Alvina Karam, Ahmad Sharjeel Karam, Abdul Moez Karam   +2 more
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