Our team, led by Dr. Gabriel Miltenberger-Miltenyi from the University of Lisbon, Portugal, and Drs. Claudia Laborc and Ruth Walker from the Mount Sinai School of Medicine, New York City, USA, has been carrying out a parallel study in XK to that we did previously in VPS13A disease.

We looked at donated brain tissue from people with XK disease and compared it to tissues from people without the disease. Our goal was to examine the types and amounts of fats (lipids) in different parts of the brain.

We found that people with XK disease had unusual amounts of certain brain lipids. Some types of fats were higher than normal in some brain regions, while others were lower. These changes were not the same in every part of the brain; some of them were similar to those we found in VPS13A disease, while others were not. The results suggest that XK disease affects how the brain processes and uses fats, which could be related to how the disease damages nerve cells.

This study gives new evidence that problems with lipid metabolism in the brain are linked to XK disease and might play a role in the loss of brain cells seen in this condition. We look forward to presenting our findings at the upcoming meeting in Lausanne, Switzerland, in September, and discussing their significance with our colleagues in the field.

This project was similarly supported by a generous grant from NA Advocacy USA and The Advocacy for NA Patients, and we are grateful to them and to all patients and family members who made this work possible.

[Pictured below: Dr. John Crary of the Icahn School of Medicine at Mount Sinai's Neuropathology Brain Bank and Research CoRE and researcher Dr. Claudia Laborc.]