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:: How to recognise Neurocanthocytosis

The first signs of the diseases in the neuroacanthocytosis (NA) group are subtle and easily overlooked. Initial symptoms, which often occur in the person’s mid 20’s, may include grunts or tic noises made unconsciously in the throat, progressing to drooling and problems in controlling the tongue from ejecting food. Involuntary biting of the tongue, lips and/or cheeks may follow.

At the beginning there can be a general, slight physical awkwardness. Things on a shelf are knocked off for no apparent reason. Difficulty with walking and balance can also be early symptoms. Problems controlling trunk, leg and arm movements are often barely noticeable at the beginning, but become increasingly difficult as the disease progresses. Several patients find it difficult to sleep at night and others report fatigue and weakness.

Personality change may also be an early indication. The carefree young adult becomes obsessive-compulsive and uncharacteristically forgetful or just loses confidence or drive. Fainting or epileptic seizures may also occur. Mood changes may happen and a person often becomes isolated, in part out of embarrassment.

There are several reports of the problems beginning after a traumatic event including physical attack, unexpected failure of an exam and birth of a child.


A defining symptom that is not apparent is the spiky red blood cells, or acanthocytes, from which the NA disease group takes its name. These unusual blood cells can be observed with a microscope in some circumstances. Still more difficult to observe are the alterations or mutations in patients’ genes. Each of the NA group diseases has a different genetic characteristic that can be determined only by blood tests.

A person showing some of this pattern of symptoms should see a neurologist. Clinicians and patients can also visit for links to further scientific reports. Full details are also available on the free blood testing service offered by the Advocacy for Neuroacanthocytosis Patients, aimed at helping determine a definitive diagnosis for NA.

:: Useful NA Resources

  • Neuroacanthocytosis Syndromes II, published December 2007, the book provides a profound insight into recent developments within the field of neuroacanthocytosis syndromes. Edited by Ruth H. Walker, Shinji Saiki and Adrian Danek. Available at
  • A Western blot test for the presence of chorein in the membranes of red blood cells can be offered free of charge due to support of the Advocacy for Neuroacanthocytosis Patients'. Download instructions on the blood sampling and specimen shipment as a PDF or get more information on the method at PubMed
  • The entry for chorea acanthocytosis in GeneReviews is the most complete, readily available report on ChAc. Published by the University of Washington with the support of the National Institutes of Health
  • A dedicated Patient & Families Support Group at Yahoo Groups offers patients and families information, advice, support or just an understanding ear
  • Visit PubMed for access to NA research in English from the Medline database.
  • Search Google for the latest on NA
  • Visit the NA page on WeMove, the Movement Disorder Societies charitable and educational associate

:: is the website of the The Institute for Neuroacanthocytosis. It is the Advocacy's international centre for supporting patients and promoting clinical and basic research. The website provides access to resources found on the website.

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IRDiRC summit underscores need for rare disease collaboration

By Dr. Adrian Danek from Ludwig-Maximilians-Universität Munich, Germany

April 16-17 2013 saw the first ever conference of the ambitious new international network, the International Rare Diseases Research Consortium, hosted in Dublin in the context of Ireland's presidency of the European Union.

Prof. Adrian Danek, coordinator of the EMINA consortium, at the IRDiRC meeting in Dublin April 16, 2013, together with his Munich colleague Prof. Klopstock (right).
Prof. Adrian Danek, coordinator of the EMINA consortium, at the IRDiRC meeting in Dublin April 16, 2013, together with his Munich colleague Prof. Klopstock (right). Thomas Klopstock coordinates the EU network TIRCON (“treat iron related childhood onset neurodegeneration”) that deals with the neuroacanthocytosis (NA) syndrome of PKAN and with neurodegeneration with brain iron accumulation (NBIA). The NA/NBIA link, after the two conferences in Bethesda 2010 and Ede 2012, will further be strengthened by the meeting of the two communities of researchers and patients taking place in Northern Italy in 2014..
The meeting, which included a poster presentation by Dr. Adrian Danek on the European Multidisciplinary Initiatives on Neuroacanthocytosis (EMINA and EMINA-2), was supported by the European Commission and the US National Institutes for Health (NIH). The international consortium itself was launched in April 2011 to foster international collaboration in the rare diseases field.

The goals of the IRDiRC, by the year 2020, are to diagnose practically all rare diseases and to deliver 200 new therapies for them. The consortium tries to harmonize the efforts of science, industry and politics in the field to achieve the momentum necessary for its bold aims. This ambition was clearly reflected in the conference's opening address by Christopher Austin, the director of the National Center for Advancing Translational Sciences within NIH: “Make no little plans; they have no magic to stir men's blood," Austin said, quoting Chicago skyscraper architect Daniel Hudson Burnham (1846-1912). "Make big plans; aim high in hope and work.”

Translating discoveries into practice

Apart from diagnosis and treatment of rare diseases, the central topic of the meeting was the translation of new discoveries into practice (“bench to bedside”). The amazing acceleration of genetic diagnosis and of gene discovery by mass collection and analysis of genetic and clinical data was most obvious when the new Chinese partner of IRDiRC, BGI Shenzhen, presented its technical facilities and approaches (“The 1000 Genomes Project”).

Of particular note were also the efforts the “Undiagnosed Diseases Program” of NIH, the Canadian “Finding of Rare Disease Genes” (FORGE) collaboration, and of the Italian Telethon foundation. Several models of partnering with small biotechnology companies and/or “big pharma” were presented and discussed.

Rare diseases and big pharma

For pharma, rare diseases offer a more focussed understanding of pathology and of possible interference with specific metabolic pathways that eventually might apply for common conditions, too. The rare disease field is an obvious model for the development and commercialization of innovative drugs. Promises of accelerated approval of such drugs by the regulating agencies might considerably reduce the number of patients necessary in drug trials.

The important concept of “re-purposing” shows one further possibility: drugs already available on the market can be screened in high-throughput approaches for their usefulness in conditions that had originally never been considered relevant or were just not known. This approach, together with “trial readiness”, appears to provide the most direct route at treatment currently available.

International collaborative efforts and data sharing are key

Overall it was obvious that the field of rare diseases world-wide is moving at a considerable pace, and that individual benefit for sufferers from one of these conditions will only result from international collaborative efforts, and from sharing of biologic samples and of data collected in large case registries.

Also discussed were the incentives for individual researchers on whose contribution data quality critically depends. Acknowledgement of their support, in an age of hunting for impact factors, must be better regulated and the model of “microattribution” was proposed as one possible approach. The concepts of “microattribution”, “trial readiness”, and “drug re-purposing” are valuable new elements in the discussions of future directions for neuroacanthocytosis research.    

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