International AHC Day

January 18, 2017 marks 5 years since researchers at Duke University confirmed that mutations in the gene ATP1A3 cause the majority of cases of alternating hemiplegia of childhood. Like years past, the AHC community celebrates this breakthrough event yearly as International AHC Day. This year we have received word that the full version of the AHC Documentary Human Timebombs will become generally available on this day! Check out the Official Documentary Website 

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Research Update: Novel ATP1A3 Mutation Producing AHC & RDP

20th International Congress ParkinsonismA 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.  HEre is the link to the abstract: http://www.mdsabstracts.org/abstract/expanding-the-spectrum-of-atp1a3-related-disorders-continuum-from-alternating-hemiplegia-of-childhood-to-rapid-onset-dystonia-parkinsonism/

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Research Update: Facial Features of Alternating Hemipleiga of Childhood

AJMGLatest AHC research from 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. With the gene find, we need to focus on finding the thousands of undiagnosed cases of AHC. (estimates of 1 in a million to 1 in 250,000 predict 7,000- 28,000 cases in the world, but only about 1200 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. Here is the ARTICLE LINK

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