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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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Susan Hills sent this intriguing boat portrait from earlier days.
Susan Hills sent this intriguing boat portrait from earlier days..

Susan Hills
in England reports she "has bought a pop-up walk-in greenhouse in order to grow strawberries, tomatoes, peas, herbs and flowers. I also have some tropical fish and I love watching them swim, as it is nice and relaxing." Susan has not done any art for a while, but she sent this intriguing boat portrait from earlier days.

Ed Ayala from Norton, Massachusetts in the USA has authored A PUNCHER'S CHANCE, and he and his wife have announced they intend to donate 20 percent of gross profits from the book to NA research.

Ed and his granddaughter Avah Marley Carvalho
Ed and his granddaughter Avah Marley Carvalho
Ed writes, "On the back cover of the book in my bio I describe my condition and some symptoms, and then direct them to for more info. The only caveat is I have to have pre-sold a minimum of 100 copies before getting published and paid royalties."

To support Ed, his book and NA research, please visit to order your copy, and please do let your friends know about Ed's book.

Elyse Weinbaum
Elyse Weinbaum
Elyse Weinbaum from Michigan writes to introduce herself and her family. "I'm 33, married, and a mother of 2 beautiful young girls ages 4 & 6. I was diagnosed with chorea acanthocytosis about 2 years ago. I suffer from seizures, foot drag, memory loss, vocal and physical tics; I constantly bite my lips, cheeks, gums, and tongue. So I wear a mouth guard, can't be in quiet places, wear out a ton of shoes, and no longer drive.

Besides that I do pretty well. I go to the gym 5 days a week, and work with a trainer so muscles don't get weak. I'm trying to spend more time with the children. I love traveling, I just went skydiving, and I really want to enjoy my life to the fullest."

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