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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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EMINA 2 holds its first annual review in Vienna

The first annual review meeting of EMINA 2 has been held in Vienna, launched by a open public meeting in a hotel close to the centre for the World Neurology Congress, when Prof Danek and Prof Klopstock gave clinical overviews of NA and Neurodegeneration with brain iron accumulation. Also at the meeting, Andreas Hermann, the leader of EMINA 2 from Dresden, spoke about the clinical science and translational research of NA while Prof. Ody Sibon, Groningen, discussed the therapeutic potential of animal models for NA and NBIA.

The meeting carried across two days, 27-28 September 2013, with the second day devoted to a closed meeting of the EMINA 2 researchers. They were joined by Profs. Lucia de Franceschi, Verona, Giel Bosman, Nijmegen, and Dr. Florian Wegner, Hannover,  who carry out research with Advocacy grants.

Together EMINA 2 and friends discussed their investigations privately, but openly and with a remarkable spirit of collaboration.  The future holds the prospect of understanding the complex biology of why specific brain cells die and bring on the neurodegeneration that all of us who face NA and NBIA know so well.  There are several early ideas of therapies to be tested on animal models that may make it possible to eventually stop the process of NA.

EMINA 2 – carrying on the work of EMINA

The original EMINA project was the brilliant initiative in 2009 of Prof. Danek who. Supported by Florence Gauzy of the Bavarian Research Alliance, Prof. Danek was successful in bringing concerned medical research professionals from Austria, France, Germany, The Netherlands and Turkey to apply for grants under the E-RARE programme of the European Union. The objective  was to pursue research into the acanthocytes that give NA its name, as well as the results of using deep brain stimulation to help NA patients and to support the REGISTRY and the free diagnostic service for ChAc.  

The EMINA work has yielded two published papers on the effect of deep brain stimulation and deeper knowledge of red blood cells.  The three year grant came to an end in 2012.
EMINA 2 came about when the team came together again in 2012 to apply successfully for a grant that involved the younger investigators in Dresden, Groningen, Nijmegen, Tel Aviv and Vienna who took the leadership positions.

Sincere thanks to NA researchers

We are grateful for the dedication of  these researchers both young  and older. The support of our generous donors has been responsible for this research getting on to the runway.  Now that it has taken off, we hope to play a role in starting others and continuing support who do not have access to Government funding.

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