Research Updates – July 2016

Research Updates – July 2016

Poster for 20th International Congress of Parkinson’s Disease & Movement DisordersA poster presentation at the 20th International Congress of Parkinson’s Disease & Movement Disorders highlights a novel ATP1A3 mutation in a family that has members suffering from both Alternating Hemiplegia of Childhood (AHC) and Rapid Onset Dystonia- Parkinsonism (RDP). This case report may help to shed further light on the underlying mechanisms of mutation in ATP1A3 and strengthens the case the AHC & RDP are part of a spectrum of symptomology in ATP1A3 mutation. Read the abstract of this publication here

 

American Journal of Medical Genetics logo

The latest AHC research from a team in Italy suggests that certain physical characteristics, particularly in the face, may be common enough in AHC Champions to have a predictive assistance. This is an emerging technology, using facial recognition software to help diagnose rare genetic diseases. One of the major reasons Cure AHC exists is to focus on finding the thousands of undiagnosed cases of AHC (estimates of 1 in a million to 1 in 250,000 predict as many as 7,000- 28,000 cases in the world, but only about 1,200 are now known). This study and the technology that could work with these findings may prove to be highly valuable in our quest. Kudos to the team and the Italian AHC Association! To read more about this publication visit this link

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