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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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On 5 December can you help us reach our vital Big Give goal?

The Big Give 2013The Big Give, a three-day drive on 5-7 December 2014, is the most important single source of contributions to the Advocacy’s research to develop a therapy for chorea-acanthocytosis (ChAc). Can you help by logging on then to submit a donation of any size?

Funds we raise during The Big Give each year help us support new research projects that often go on to win large grants in a European Union programme.  The Big Give matches donations we receives on-line at our dedicated NA Big Give page.

Neighbours and friends especially in the United States have pledged to match on-line gifts to the Advocacy up to £10,000.  In addition the Big Give has pledges from the Reed Foundation, our “Charity Champion," to match another £10,000. Our goal is to find generous donors to donate £20,000 on-line.

It is something of a competition since the funds from the Charity Champions are limited.

The secret to getting your donation matched is to donate on-line at 10am Greenwich Mean Time on December 5, 6 or 7 2013.

The matching funds are limited and when they run out, it is necessary to try again at the same time the next day – 10am again. We can help if needed: if you cannot be on-line at 10 am on December 5, 6 or 7, please let me know and we can make the donation for you.

We hope we can count on those who have donated through the Big Give in the past. This year our goal is higher and we will need £5,000 on top of the last year’s donations to reach our £40,000 target.

We sincerely appreciate whatever you can give us this year. It's the time of year for hope, and your generous support of the Advocacy gives us genuine hope that we can beat these diseases. Thank you!

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