The 9th International Meeting on Neuroacanthocytosis Syndromes was held on March 23th–25th, 2018 in Dresden, Germany. The conference followed the tradition of the previous eight international symposia, the last of which was held in Ann Arbor, USA in May, 2016. Following the positive response to the previous meeting, a major component of this year’s symposium was the participation of patients, their families, and caregivers. The conference focused primarily on chorea-acanthocytosis as one of the “core” diseases of neuroacanthocytosis syndromes, with some discussion also of McLeod syndrome. These neurodegenerative diseases lead to chorea, epilepsy, cognitive and behavioral problems, and acanthocytosis of red blood cells. While chorea-acanthocytosis is caused by mutations in the VPS13A gene, other “VPS13opathies” (VPS13B-D) were also topic of the meeting.
At present there are no treatments that can halt or slow down the progression of these diseases. However, two pathways seem to be prominently involved in chorea-acanthocytosis – namely the PI3K (phosphoinositide 3-kinase) pathway and the Lyn kinase pathway – both of which are potential “druggable” targets. Model organisms including Dictyostelium, Drosophila, yeast, and mice, and human cell models were presented. Finally, clinical translation and clinical trial readiness in such a rare disease were extensively discussed.