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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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NA gene bank wins long-term support following new grant
Long-term storage of patient DNA has been made possible following new grant support received in Munich, a major advantage for current and future research into NA and other rare movement disorders. In June, Dr. Benedikt Bader won a grant by the Friedrich Baur Stiftung in Munich for laboratory material (consumables) needed to extract DNA from all the blood samples received for Western blot diagnostics since 2005.

Copyright ydhsu / Daniel @ Flickr
Jia Liu, a doctoral student newly involved in neuroacanthocytosis research, is completing a database of the clinical symptoms of the patients whose DNA is stored. This collection of patient DNA will be valuable in research projects that may emerge in the future, such as the screening for newly discovered genes or the search for new disease-associated genes in rare movement disorders.

The grant also covers preservation and long-term storage of these biomaterials and their sharing with EMINA and other collaboration partners.

Detailed analysis and sequencing of the VPS13A gene is available on a commercial and clinical basis. Inquiries can be directed to the Medizinisch-Genetisches-Zentrum (medical genetic center, MGZ) in Munich. Full contact information is available at the MGZ homepage (

Because genetic testing remains expensive as a diagnostic procedure due to special properties of the gene, the free Western blot testing provided by Ludwig Maximilians University is considered the preferred screening method. If Western blot analysis is not conclusive, Dr. Benedikt Bader can arrange detailed analysis of the VPS13A gene by directly forwarding extracted DNA to the MGZ to avoid a second blood sampling of the patient.

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