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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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Fundraising Update

Katie goes the distance for NA

Katie raised over £750 for NA
We recently met with Katie Grabham, niece of Peter and Denise Ball. Katie completed her first-ever half marathon (Run to the Beat) from and to the Dome (O2 Centre) in Greenwich near London on September 26th, when over 12,000 runners came together to raise funds for charities. Katie finished in just over two hours: she said she had trained for the day but had never run the whole distance before marathon day. We applaud Katie's effort and thank her for contributing over £750 to our cause.

Parry family walk raises essential funds

Parry Walk
Parry Walk
Parry Walk
Parry Walk
Parry Walk
Parry Walk
In May of most years for the last 12 years, Gordon and Gill Parry in North Wales have organised a sponsored walk in aid of both NA and epilepsy. This year Alex, Glenn and Ginger Irvine joined the walkers through the woods and pastures of the Gladstone estate in Hawarden. Over 150 walkers shared the space with cows and wildlife to raise more than £3500. Alex was assisted in the walk by local lads who carried her for the second half (after a stop in a local pub) in a ready made wheelchair/sedan chair!

Thanks to the carriers and all the walkers, and especially to Gill and Gordon who spent many hours organising all aspects of the day and the resultant donations; a good time was had by all.
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