Neuropathology of Neuroacanthocytosis Project Update
by Ruth Walker

Human brain in palm of hand

We have recently completed our initial studies of brain tissue from people affected by chorea-acanthocytosis (ChAc; VPS13A disease) and have some intriguing findings which potentially point to abnormal processing of lipids (fats) which make up cell membranes. This fits with our recent understanding of the functions of the proteins affected in VPS13A disease and XK disease (McLeod syndrome), and could account for the appearance of the thorny red blood cells in addition to the other effects upon the brain.


Posters/presentations on the Neuropathology of Neuroacanthocytosis project were recently sent to the 99th Annual Meeting of the American Association of Neuropathologists ( and the Neuroscience Annual Retreat hosted by the Friedman Brain Institute ( Ricky Ditzel will be presenting posters for these events. The manuscript is currently being generated and a first draft should be submitted by the end of the month.


We are continuing to receive tissue from collaborators, and are grateful to those affected by these diseases and to their families for their generous donations which have made this work possible so far. 

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