Neuropsychiatric features of Wolfram Syndrome and other genetic disorders
As discussed in a previous newsletter, we have learned
that anxiety and depression symptoms are fairly common
in people with Wolfram Syndrome. These symptoms are
also very common in people without Wolfram Syndrome,
and may be influenced by genes, life stress, and other
factors.
In preliminary examination of our data, I have also noticed
some trends indicating that psychiatric symptoms and
certain types of neurological signs/symptoms might be
related. I plan to further analyze the data to confirm
whether this is true. I would also like to take a closer look
at the brain imaging findings to investigate whether
specific difference in brain structure or function may be
related to specific psychiatric and/or neurological
symptoms.
I also hope to do some investigation comparing the types
of symptoms seen in Wolfram Syndrome to those
reported in other genetic disorders that affect the
functioning of ryanodine receptor calcium channels
(RYRs), which release calcium from the endoplasmic
reticulum (ER) within cells. In Wolfram Syndrome, too
much calcium is released through these channels. Studying
disorders with similar disease mechanisms could help us
understand what produces the symptoms of both
Wolfram Syndrome and other related other disorders. It is
possible that diseases with similar mechanisms may
respond to similar types of treatment.
By Angela M. Reiersen, MD, MPE