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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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Double your donations on 4 December with the Big Give

The Big Give 2014

The Big Give is here again…


You may know that 4 December is our once-a-year-chance to double the value of any contribution you make to help fund NA research and our patient support work. Patients like our own daughter Alexandra lead lives that have been severely affected by neuroacanthocytosis, but our work is helping her and so many other patients with NA group diseases, including McLeod’s syndrome and Huntington’s-like 2.

The research we fund is currently pursuing two, extremely promising lines of inquiry (see Ruth Walker's article, Stresa Symposium reveals significant insights for NA research, in this issue) and your gift, of any size, will make a vital contribution.

Just fill in the simple form with credit card details, and your donation will be doubled, even though contributions do not show up immediately on the Big Give website.

We have excellent news this year: an extra special matching fund of £5,000 ($8,000) means that regardless of whether you are able to make a donation through the Big Give website, we will be able to match the first £5,000 ($8,000) in donations, even those you make directly to the NA Fund.

If you can give online at the Big Give, that's wonderful! If you would prefer to donate direct, please use the following details:

For dollar donations of over $500
It is best to send these to us at 32 Launceston Place, London W8 5RN, England as a check payable to “Anglo-American Charitable Foundation”.

For dollar donations less than $500
These dollar donations can be sent to 32 Launceston Place, London W8 5RN, England as a check payable to “NAFund”.

For any donations in Euros
Please send these directly to our German colleagues. Donations should be made to our chief NA researcher in Hannover:

Dr Florian Wegner, Medischinische Hochschule Hannover
Fondnummer 19551261
Acct no 370 371, Sparkasse Hannover
BLZ 250 501 80, Remarks :Fonds 1955 1261
IBAN: DE 15 250 501 80 0000 370371

The Big Give makes a big difference to the NA Advocacy. Thank you for any amount, big or small, that you can give this 4 December!

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