Alternating Hemiplegia of Childhood (AHC) is a very rare neurological disease caused by specific groups of mutations in the ATP1A3 gene. Rapid Onset Dystonia-Parkinsonism (RDP) and, recently, a new syndrome (CAPOS) have been recognized involving other mutations of the same gene.
All these conditions are very rare and partly overlapping in their neurological manifestations; common pathogenetic mechanisms could be involved.
The IAHCRC International Consortium for the Research on Alternating Hemiplegia of Childhood was formed in 2012 to carry out a collaborative research that led to the identification of the ATP1A3 gene as the main cause of AHC.
The Consortium involves clinicians, geneticists and researchers working at University centers in Europe, USA and Australia; it operates in close collaboration with health professionals and patient organizations, most of whom were already involved in the EU-funded projects “ENRAH for SMEs” (FP6, 2005-2007) and nEUroped (PH, 2008-2011).
Read the synopsys of the article recently published on the Journal of Child Neurology about the methodology of a natural history study of Alternating Hemiplegia of Childhood as a Prototype Disease (OBSERV-AHC Study), written by the first author Dr. Shital Patel (Duke University, USA), at this link
Read the News about the publication.
|GREAT NEWS! The new international study of the efficacy of Ketogenic Diet in AHC (IAHCRC Study KETO-AHC) has been launched inside the collaborative framework of the IAHCRC Consortium, coordinated by Dr. Carmen Fons and Dr. Jennifer Anticona (Hospital San Juan de Deu, Barcelona, Spain). All research centers are invited to participate, also non -IAHCRC.
Read the Invitation Letter and, if interested, fill the Recruitment Survey as described in the News
Congratulations to Dr. Eleni Panagiotakaki (University Hospitals of Lyon, France), that has been elected as IAHCRC Deputy Coordinator for the years 2022 -2024.
Prof. Mohamad Mikati (Duke University, USA) has been confirmed as Scientific Coordinator for the same time period, and Prof. Alexis Arzimanoglou (University Hospitals of Lyon, France) has taken on the role of Past Scientific Coordinator.
Read the complete News
Since 2012, the researchers involved in the study of the ATP1A3 diseases gather with all the stakeholders worldwide at the annual edition of the International Symposium on ATP1A3 in disease (Official Website).
Dr. David Goldstein, chairing the
On January 18, 2012 the ATP1A3 gene was discovered to be the primary cause of Alternating Hemiplegia of Childhood (AHC), thanks to an international research project supported by the patient associations in the USA and in Europe.
Since then, this date has been celebrated as the AHC International Day, to raise awareness about this ultra-rare neurodevelopmental disease that affects only one in a million people.
In January 2022, for the whole week, we joined the families all over the world in sharing information about AHC as well as photos from their #oneinamillion campaign. We also celebrated the 10° Anniversary from the discovery of the genetic cause for AHC.
To learn more about AHC, you can:
last update 30 September 2023