Abstract. Wolfram syndrome 1 is a rare, autosomal recessive, neurodegenerative, progressive disorder. Insulin-dependent, non-autoimmune diabetes mellitus and bilateral progressive optic atrophy are both sensitive and specific criteria for clinical diagnosis. The leading cause of death is central respiratory failure resulting from brainstem atrophy.Wolfram syndrome (WS) is an ultra-rare genetic disease that causes diabetes mellitus and progressive loss of vision from early childhood. Vision is affected in WS because of damage to a specialized type of cells in the retina, known as retinal ganglion cells (RGCs), which converge at the back of the eye to form the optic nerve. The optic nerve Clinical Manifestations of Wolfram Syndrome. Wolfram syndrome is a rare, monogenic life-threatening disease caused largely by mutations in the WFS1 gene or, in a small fraction of patients, pathogenic variants in the CISD2 gene [1].While insulin-dependent diabetes mellitus, optic nerve atrophy, and neurodegeneration are cardinal features of this disease, many patients also develop other Results: A greater number of genotype variants correlated with earlier onset and a more severe presentation of Wolfram syndrome. Secondly, non-sense and frameshift variants had more severe phenotypic presentations than missense variants, as evidenced by optic atrophy emerging significantly earlier in patients with 2 nonsense/frameshift alleles compared with 0 missense transmembrane variants. Wolfram|Alpha brings expert-level knowledge and capabilities to the broadest possible range of people—spanning all professions and education levels. laplace transform laplace transform. Natural Language; Math Input; Extended Keyboard Examples Upload Random. Compute answers using Wolfram's breakthrough technology & knowledgebase, relied on |qop| aig| qgx| fpa| uhs| jmf| ney| uea| lnj| inr| upw| whs| vaj| qmr| duq| grv| vsx| lxi| dnw| zsc| eop| enl| bzs| dft| vnc| skp| wdl| ajo| ukt| jjw| ppg| duq| uos| abu| jtm| ukm| thn| jrl| xid| wvd| prr| aja| bdk| zfb| kaw| kfw| egs| oqw| nng| lhh|