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 23

NA News Issue 22

NA News Issue 21

NA News Issue 20

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:

Everyday tips for NA patients
Welcome to this new section in NANews specifically for patients. Here, we'll share non-medical techniques some patients find helpful for coping with some of the symptoms of NA, and we also share details about daily activities of patients and how they spend their time.

RemoteRaine Petersen writes from Australia to tell us how her brother Robbie used to overcome some mobility difficulties. To change channels on the TV, he had to rest his hands with the remote on top of his head or the remote would fly away. Getting out of bed was made easier by placing a bean bag next to the bed and he would roll onto it. Rubber padding was put on the walls of the shower so he would not injure his head when moving about.

Jane Donaldson
has shared a treatment she uses with her daughter Sandra Schwartz in the US. Essential natural oils seem to be helping Sandra appear and feel calmer. Jane also massages her throat with "Wild Orange" for relaxation.

From an Israeli patient, father and therapist we have received the following:

"After five months of treatments with acupuncture and an herbal formula, we can now see Enav has more appetite, being more sociable and his laughter is back. He no longer spits and his tics are mostly gone. He sleeps without the need for pills. Enav's therapist is working to alleviate his tiredness and loss of some memory. We are all hopeful as Enav's changes have been beyond our expectations." We have subsequently heard  that Enav has experienced some regression and symptoms have returned somewhat; they are still using acupuncture.

Acupuncture and NA

In rare diseases such as Neuroacanthocytosis (NA) it is extremely difficult to conduct the usual clinical trials of potential therapies, in which one group of people who receives the therapy, and one group that does not. Therefore we often have to rely largely on reports of therapies which have been tried in a single person, such as in the report above of a person with NA who had a positive response to weeks of acupuncture. This will inevitably provide hope for others but at this stage we advise caution.

It is very exciting to hear of anything which is beneficial in NA, even in a single patient. In order to learn more about potential benefits of acupuncture in NA, and to have greater confidence that this is something that other people might want to try, we would encourage the practitioner to provide longer term follow up of their patient (maybe by documenting using a video).

It would be useful to learn if there are improvements -  or lack of worsening - in specific tasks that the person has difficulties with, such as writing, eating or tying shoe laces. This might provide some very interesting evidence of the efficacy of acupuncture in this severely debilitating condition that could then be tested further.

Facebook Twitter LinkedIn | Comment (0)