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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AHCF Receives $125,000 Donation

AHCF Kids WorldwideSOUTHFIELD, Mich., March 2, 2016 /PRNewswire-USNewswire/ — On Rare Disease Day, February 29, 2016, the Alternating Hemiplegia of Childhood Foundation (AHCF) received a donation from the Jake and Nina Kamin Foundation in the amount of $125,000.  “I am glad to help in this endeavor and I am very optimistic that the research will find better drugs that will help the AHC kids,” said Susan Smith, president of The Jake and Nina Kamin Foundation.

The AHCF hopes to raise $550,000 to fund the next round of research projects and this amazing donation will get the foundation closer to that goal.

Tobe Cohen, father of AHC Hero Asher commented, “It is so rewarding to see the caring and generosity that I saw in my Uncle and Aunt in their lifetime, continue on through the Jake and Nina Kamin Foundation. The foundation’s gift will enable critical research to continue in the search for a treatment and cure for Asher and all the kids who battle AHC every day.”

For more information or to donate, visit ahckids.org. AHCF can also be found on Facebook and Twitter.