Early Brain Vulnerability in Wolfram Syndrome

@inproceedings{Hershey2012EarlyBV,
  title={Early Brain Vulnerability in Wolfram Syndrome},
  author={Tamara Hershey and Heather M. Lugar and Joshua S. Shimony and Jerrel R. Rutlin and Jonathan M. Koller and Dana C. Perantie and Alex R. Paciorkowski and Sarah Ann Eisenstein and M. Alan Permutt},
  booktitle={PloS one},
  year={2012}
}
Wolfram Syndrome (WFS) is a rare autosomal recessive disease characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, diabetes insipidus, deafness, and neurological dysfunction leading to death in mid-adulthood. WFS is caused by mutations in the WFS1 gene, which lead to endoplasmic reticulum (ER) stress-mediated cell death. Case studies have found widespread brain atrophy in late stage WFS. However, it is not known when in the disease course these brain abnormalities arise… CONTINUE READING
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