Juvenile diabetes and visual impairment: Wolfram syndrome
نویسندگان
چکیده
منابع مشابه
Diabetes and Neurodegeneration in Wolfram Syndrome
OBJECTIVE To describe the diabetes phenotype in Wolfram syndrome compared with type 1 diabetes, to investigate the effect of glycemic control on the neurodegenerative process, and to assess the genotype-phenotype correlation. RESEARCH DESIGN AND METHODS The clinical data of 50 patients with Wolfram syndrome-related diabetes (WSD) were reviewed and compared with the data of 24,164 patients wit...
متن کاملWolfram Syndrome (Diabetes Insipidus, Diabetes, Optic Atrophy, and Deafness)
OBJECTIVE Wolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by diabetes insipidus, diabetes (nonautoimmune), optic atrophy, and deafness (a set of conditions referred to as DIDMOAD). The WFS1 gene is located on the short arm of chromosome 4. Wolfram syndrome prevalence is 1 in 770,000 live births, with a 1 in 354 carrier frequency. RESEARCH DESIGN AND METHODS...
متن کاملEarly presentation of gait impairment in Wolfram Syndrome
BACKGROUND Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS) is also associated with atypical brainstem and cerebellar findings in the first decade of life. As such, we hypothesized that gait differences between individuals with WFS and typically developing (TD) indivi...
متن کاملWolfram syndrome.
Wolfram syndrome is a rare neurodegenerative and genetic disorder, which should be suspected in patients with young onset non-immune insulin dependent diabetes mellitus and optic atrophy. Patients are most likely to develop diabetes insipidus, deafness, urinary tract, and neurological abnormalities. 60% of the people with Wolfram syndrome die at age 35, usually due to central respiratory center...
متن کاملAutosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation
We used an unbiased genome-wide approach to identify exonic variants segregating with diabetes in a multigenerational Finnish family. At least eight members of this family presented with diabetes with age of diagnosis ranging from 18 to 51 years and a pattern suggesting autosomal dominant inheritance. We sequenced the exomes of four affected members of this family and performed follow-up genoty...
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ژورنال
عنوان ژورنال: QJM: An International Journal of Medicine
سال: 2019
ISSN: 1460-2725,1460-2393
DOI: 10.1093/qjmed/hcz066