A recent scientific paper (linked below) reports that PLAN is associated with ceramide accumulation in a fruit fly model of this disorder. Ceramide is a type of fat (lipid) used widely in the body, especially in the membranes of cells. The authors report that accumulation of ceramide in the nervous system puts stress on an […]

This article and other news can be found in the latest issue of our newsletter which can be downloaded/viewed here: April 2018. Back in April 2015, the very first beta-testers started participating in our online natural history study, PKANready. These early testers helped us work out the bugs and finalize the design before the full […]

Our team will now be publishing a newsletter several times a year to update you on our research studies and let you know about upcoming projects. If you would like to join the mailing list to receive the pdf by email as soon as it’s released, please let us know by sending an email to […]

NBIA in Africa? We don’t often hear about new NBIA diagnoses in African countries. The NBIA disorders are not isolated to a particular race or ethnicity so we know individuals must be diagnosed in countries all over the world. Genetic testing is more widely used each year but having affordable access to it is still […]