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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.

CLINICAL SIGNS

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 www.naadvocacy.org 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 amazon.com
  • 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



:: naadvocacy.org

naadvocacy.org 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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Ten ways you can act now to bring a cure for NA closer
Fundraisers like Katie's marathon last year have raised almost a third of the funds we need to develop an in vivo model of NA
Patients who suffer from NA diseases come from all walks of life and all corners of the globe, but all have one thing in common: that feeling of helplessness when first diagnosed with neuroacanthocytosis. So many things about NA are overwhelming: there are so few cases; so little is known about how the genetic mutations bring on such severe physical problems; there are no coordinated conclusions about the effectiveness of drugs or deep brain stimulation.

So what can you do if you are diagnosed? There's a great deal, and you can start today. Here are the top 10 ways you can fight back against the disease that we are all committed to beating:

Confirm the diagnosis: get confirmation by sending blood samples for the Western blot test for chorea-acanthocytosis. It's completely free, supported by the Advocacy and Ludwig-Maximilians University in Munich.  Click here for full details about the Western blot test

Ask your doctor to register your case: as well as keeping your own patient's diary, you can collaborate with your physician by asking him or her to register your case and the details of changes in your condition in the NA REGISTRY. Doctors will record the patient’s history and report on the results of an examination according to a consistent protocol; this may take an hour or longer if the doctor is able to arrange to take a video recording of their patients. Don't be shy about asking your doctor to help; they probably feel as helpless as you do in the face of the diagnosis of NA and will be keen for a practical way to help.

Support Vienna researchers with blood samples: Patients and physicians can collaborate right now with researchers who are investigating the causes of NA. The researchers need blood samples for their work at the Medical University of Vienna. Contact Claudia Roos PhD  or read more in last issue's description of the Vienna research.

Keep a patient's diary: record how your condition changes, and share it with Benedikt Bader MD who is compiling a comprehensive collection of case records, which is invaluable to researchers. Contact Dr. Bader by email

Reach out to other patients
:  share your experiences on the Yahoo NA Group or write a blog. Correspond with Ginger Irvine at NA Advocacy.

Share therapies that work for you: whether you write to us here at NA news or share your experiences online, we want to hear from you if there are techniques, assistive technologies, or other advice you can offer to other patients dealing with common problems like communication, eating and exercise.

Raise money with a sponsored walk or run: the Advocacy for Neuroacanthocytosis Patients is working tirelessly to raise enough funds to develop an in vivo model of ChAc, and fundraisers organized by families and individuals have made a huge contribution to this fund. Sponsored walks and marathons are a favourite, and collecting support donations is easily done online.

Raise funds with a sponsored golf tournament: this is another great idea, which we first saw from the Parry family. In fact the Parrys have also organized fund-raising by selling books and home-made greeting cards, as well as organizing a bridge tournament. There really are no limits to what is possible! For fundraising ideas or information, e-mail Glenn Irvine.

Leave your brain tissue to science: donation of brain tissue is a very precious, very special way in which NA patients can help the cause of research after their death. Invaluable information about the effects of NA on the brain can only be found by a post mortem examination. Many patients have already consented to donation: read here to see some helpful insights into how one mother decided to approach the question of brain tissue donation with her daughter.

Keep yourself and your doctor informed: We are a small community. That makes all patients and their families as well as their doctors the keys to progress. Encourage your doctor to sign up for NA News, and to stay as informed as possible about developments in research into the basal ganglia, the area of the brain affected by NA. The more people talk and know about NA, the greater our chances of ultimately defeating it.


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