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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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First ever meeting of NA patients, families and carers at Ann Arbor conference

Ann Arbor Patients

The first ever meeting of Neuroacanthocytosis patients, families and carers was held at the University of Michigan in Ann Arbor, Michigan in the US in May was a tremendous success. It was sponsored by The Allergan Foundation, Neurocrine Biosciences and the Advocacy.

The group photo above includes both patients/families and researchers/clinicians.

Thirteen patients and nineteen family members/carers attended in conjunction with the science meeting, with researchers and consultants sharing new work and outcomes with an international audience. The patients' meeting was streamed to offer understanding of the participants' experiences and questions.

A joint session was the first agenda item with introductions by Roger Albin, Bill Dauer and Chad Weinbaum with presentations by Adrian Danek, Ruth Walker and Ginger and Alex Irvine.

The family meeting continued with participants sharing histories and questions and learning about the history of the Advocacy.
After lunch there were presentations about Physical Therapy, Speech and Swallowing and Raiki by locale experts. The day ended with a poster session and reception/dinner with the scientific meeting participants.

Sunday brought together Adrian Danek and Ruth Walker for a medical Q&A, which was most useful for all participants. It was followed by a discussion of the future of the Advocacy; many ideas and offers of volunteer help were offered. After lunch the participants took more photos (our immense thanks to Jerry Paro whose photos feature here) and promised to keep in touch with ideas and support before the next meeting in Dresden in spring of 2018.

We were delighted the event had such a positive impact on patients and their families. Here are just some of the comments they made about the Ann Arbor meeting:

"Mark and I both thought the symposium went very well, and we deeply, deeply appreciate your making it happen. We came away inspired by the other patients and their families, and feeling not quite so alone".

"I found it to be very informative and the friends Ed and I made will last a lifetime."

"I found a huge experience sharing this time with Doctors as Danek and Ruth, patients and family, from whom I have also learned."

"Great to share, lovely inclusive, friendly sessions; thanks for all that was accomplished!'”

"I have learned a lot of things about ChAc, especially I know I am not alone; loved meeting all the others."

"We learned so much! We don't get a lot of info from the doctor - or ways to figure out where to get info. Tthe registry, blood tests, DNA and mutations were all subjects we learned more about."

For photos and streaming information about the Ann Arbor event, see this link.

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