Two research publications out of Denmark were published recently (and presented at the 5th Symposium) shed some light on the molecular mechanisms that might underlie alternating hemiplegia of childhood, also pointing to some potential areas for treatment.
The first, published in Scientific Reports, concerns cognitive deficits in an AHC/RDP and the attempts to use clonazepam to improve cognitive function. We thank the team for acknowledging the input of patient associations, including the contribution from Cure AHC President Jeff Wuchich.
The second, published in Biochimica et Biophysica Acta (BBA) – Bioenergetics, worked on a theory that the loss of function in the mutated ATP1A3 gene could be restored by suppression of function of another gene. The team “broke” that other gene and indeed the mutated ATP1A3 gene appeared to regain proper function. This is a very preliminary finding and extensive further study is needed (especially understanding the molecular and other side effects of such function suppression) , but this study does begin to point to an area for compound targeting that could show promise. Though not a breakthrough, this is very exciting news, perhaps the best news shared at the symposium.