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