Welcome!

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 (AHC) 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).


	Today is the International Day of Alternating Hemiplegia of Childhood (AHC)! On January 18, 2012 the ATP1A3 gene was discovered to be the primary cause of AHC, thanks to an international research project supported by the patient associations in the USA and in Europe. Since then, this day has been celebrated to raise awareness about this ultra-rare neurodevelopmental disease that affects only one in a million people. For today and the rest of this week, we will join the families all over the world in sharing information about AHC as well as photos from our #oneinamillion campaign. We hope you will join us by sharing our publications and those of the other patient associations of the AHCIA International Alliance. To learn more about AHC, you can: visit this website and our page on Facebook watch the film Human Timebombs read the article on Rare Revolution Magazine

	A new article about the IAHCRC Study of cardiac involvement in ATP1A3-related disease (ECG2-ATP1A3 Study) has been published in the scientific journal Neurology. In the Editorial Comment to the article we read that "overall the Study confirms that cardiac disease can be found in ATP1A3-related conditions and provides recommendations for change in clinical management of all ATP1A3-related conditions, with a need for systematic cardiac investigation, as cardiac arrhythmic morbidity and mortality are potentially preventable. " The full Editorial Comment, written by Prof. Sanjay Sisodiya and Dr. Simona Balestrini (UCL), is available at this link

	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). The Fifth Edition of the Symposium took place in London, UK, last 24 – 26 August 2016, hosted at the National Institute of Neurology (University College of London) by Professor Sanjay Sisodiya and Professor Helen Cross, members of the IAHCRC Consortium. A Workshop reserved to the IAHCRC members was organized joint to the Symposium, with the aim to validate the new set of Common Data Elements (CDE’s) about the Paroxysmal Events and Developmental Skills in AHC. The new CDEs have been proposed by Prof. Mohamad Mikati, Deputy Coordinator of the IAHCRC Consortium, and his team of the AHC Clinic at the Duke University, Durham NC, USA (Read the complete News). As a follow-up of the Workshop, the new CDEs about Paroxysmal Events and Development Skills were definitively validated, and added to the IAHCRC Core CDEs. The OBSERV-AHC Study was designed (2017) based on those CDEs and it is currently in its first phase of patients' recruitment. The 8th Symposium on ATP1A3 in disease took place last October 3 and 4, 2019 in Reykjavik, Iceland (Visit the Official Website). On February 9, 2019 in Barcelona, Spain, the International Symposium on AHC took place, with the participation of many members of the IAHCRC Consortium as speakers. For more info and registration, read the News).		Dr. David Goldstein, chairing the Second Symposium on ATP1A3 in Disease (Rome, 23 – 24 September 2013) together with Prof. Giovanni Neri, points out the need of collaboration for the international research on AHC, with the support and the involvement of the patients and of all the stakeholders, in his concluding remarks

	On the occasion of the International AHC DAY (18 January 2017), the new Website dedicated to the docu-film HUMAN TIMEBOMBS was opened. You can watch it in more than 10 languages. The film was produced by the the Association AHC Iceland, on behalf of the AHCIA International Alliance of the Patient Representatives. By making Human Timebombs public, their hope is to help AHC families worldwide to get more understanding from people in their community. They also hope that more children will obtain an early and correct diagnosis because of the film and that more doctors and researchers will get interested in helping the AHC community to find a treatment for this rare, complex and devastating disease. Please, visit the Website and spread the news!		Vist the Website of the docu-film about AHC HUMAN TIMEBOMBS

last updated 18 January 2021