Cover Page»
:: 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.

  • Patients' Centre
  • Clinic
  • Library
  • Symposia
  • NA News
  • Research
  • Fundraising

:: Previous Issues
NA News Issue 19

NA News Issue 18

NA News Issue 17

NA News Patient Special Issue

NA News Issue 16

NA News Issue 15

NA News Issue 14

NA News Issue 13

NA News Issue 12

NA News Issue 11
:: Join NA News

NA News

Email Address:


Warm thanks for the efforts and generous support of everyone who donated on-line to the Advocacy’s work during the BigGive campaign December 2012. The result was a magnificent £36,000. This included our Pledgers who agreed to match donations up to £7,000 as well as £7,000 from our Champion, Candis magazine.  The funds far exceeded the £20,000 raised in the BigGive in 2011. We are very grateful to the organizers of the BigGive campaign team that is supported by the Reed Foundation. Since we are all volunteers, 100% of funds raised go to research. The BigGive has allowed the Advocacy to pledge support to vital research programmes that are progressing to find therapies for NA. Sincere thanks from all of us whose lives are affected by NA and from the researchers who, through your generosity, now have the support to search for causes and a cure.

At the Virgin owned Roof Gardens the Gardening Club met in January when Ginger and Glenn Irvine presented a certificate of thanks (designed and printed by patient Alex) to David Lewis, Head Gardener and club organiser.
Ginger and Glenn Irvine presented a certificate of thanks (designed and printed by patient Alex) to David Lewis, Head Gardener and club organiser.
At the Virgin-owned Roof Gardens the Gardening Club met in January when Ginger and Glenn Irvine presented a certificate of thanks (designed and printed by patient Alex) to David Lewis, Head Gardener and club organiser. Our thanks go to David and Virgin for supporting NAAdvocacy with a marathon run, club meetings and raffles and GiftAid. The total donation was just over £3000.

A close shave for NA
A close shave for NA.
Can you think of a creative fundraiser to support NA? Cumulatively, these fundraisers allow us to support essential work of researchers during the coming year. Last year's corporate sponsorship of NA (Virgin and Free School London office) shows just how successful these initiatives can be. Are you, or others you know, seeking a charity for whom you can run, walk, row, sail, cycle, parachute jump,  wash cars, play golf, darts, bridge, sell plants, books, baked goods, or greeting cards, or organise Workplace Giving Programmes or art exhibitions? An NA Advocacy fundraiser can take any shape or form! The on-line donation site is ready to go for any project. For ideas or assistance, contact
Share | Comment (0)