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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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Save the date: the Big Give makes a big difference to NA on 5 December

The Big Give plays an important part in our search to understand and treat NA, and this year we're asking all our supporters to make an extra effort to save the date: logon to the NA page on the Big Give website at 10 AM GMT any day between 5 December and 18 December, and you can seize a rare chance to double your donation. The NA Advocacy will make its largest ever call for new research projects proposals in 2014, and the Big Give is vital to our success.

The NA page on the Big Give website
On-line donations made at 10AM GMT between  the 5th and 18th December are matched by major supporters of the Advocacy as well as by Candis, the British weekly magazine, and the Reed Foundation. The goal for pledges to be matched is £10,000, so timing is important. Closer to the date, we will be in touch again with a quick reminder about when and where to logon if you plan to make a donation this year.

This year’s campaign is especially important because we plan to send a call for new research project proposals to academic scientists around the world. Some of these will be detailed plans to pursue new ideas. Others will detail plans to develop further already established investigations by members of our circle who have worked to discover how and why red blood cells of patients become deformed and what significance this has for the illnesses that affect brain cells. Still others are learning the function of the missing genes in chorea-acanthocytosis (VPS 13A) and mutations in XK (McLeod syndrome) with the hope that therapies can be found to restore or replace the missing function. Others have succeeded in reproducing the brain cells from ChAc patients and with colleagues are exploring how these affected cells differ from healthy cells. When we know the factors that are causing cells to self-destruct, we are on the search for medication to stop or over-ride the decline.

Each such study costs $42,000 (€32,000/£27,000) annually to cover part of the researchers salary and/or laboratory supplies. Most of the research in NA was started with Advocacy grants that attracted early interest of newcomers to the field. European (including Israel and Turkey) laboratories have gone on to win grants sponsored by E-RARE, a European Union programme that has supported researchers with a total of €768,000.

All research proposals are scrutinized by an independent panel of scientists who rank the quality of the proposals and potential value in the marathon to find therapies and cures for the NA diseases.

Remember for any, The Big Give on-line donation address is: NA - A Key To Understanding Neurodegeneration

We will be back in touch about the Big Give in November. Thank you again for your support!

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