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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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Blood samples urgently required for NA research in Vienna

NA patients willing to donate blood samples can make an invaluable contribution to the Vienna-based team investigating a novel hypothesis about chorein, the missing protein in ChAc patients.

Researchers on the project, which is being led by Dr. Claudia Roos at the Medical University of Vienna, are very grateful for the blood donations already received. However, additional donations are urgently required in order to support the research. We hope you will help us support this important work which may ultimately deliver benefits to everyone in the NA community.

Red Blood Cells - copyright Wellcome Images
Red Blood Cells - copyright Wellcome Image
If you can help, please be assured that all your shipping costs will be reimbursed by the Vienna team. Ask your doctor to draw 2-5 ml of venous blood in an EDTA tube from both an NA patient and from a control (this can be a non-related or a related person who is not affected by NA) at the same time. It's important to send these under the same conditions (blood tubes wrapped in paper towels in a Styrofoam box with cool pads should be fine. The probes should be cooled NOT frozen). Please label each sample appropriately. The full address for Dr. Roos and her team is below.

Your doctor may have questions or concerns about sending blood to another institution for research; in some instances however your doctor will be happy to release the blood to you personally, and the Vienna team can coordinate directly with you for shipping.

Please send samples to:

Dr. Claudia Roos,
Max F. Perutz Laboratories (MFPL)
Medical University of Vienna
Dr. Bohr-Gasse 9/3
Vienna A-1030, Austria
Phone: +43-1-4277-61643

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