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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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Practical arrangements for brain tissue donation
Brain scan image Copyright Ben Beiske
Led by Dr. Benedikt Bader, the neuroacanthocytosis research team based in Germany is ready to give practical guidance to your doctor if your family should decide to donate brain tissue for research after death.

Tissue donation is the ultimate contribution NA patients can make to support research. The research team is very grateful for families' support. The NA disease group is extremely rare and patients’ tissue is vital to advance our understanding of the mechanisms leading to the disease.

Having a conversation together about willingness to make the tissue donation is the first step, and most patients are happy to agree. Read here how Ann Lippincott approached the subject of tissue donation with her daughter, Marika, in 2009.

If there is consent with the patient and family, the family should contact Dr. Bader (contact information) prior to death if this is feasible. Dr. Bader will be in direct contact with your doctor to discuss preparations, including the requirement for the autopsy to be done as quickly as possible and guidance on the procedure.

If an autopsy has already been performed, it is necessary to preserve at least paraffinated (?) tissue blocks of the following regions (as complete as possible);

  1. Frontal,
  2. temporal,
  3. parietal,
  4. occipital (area 17),
  5. cingulate + corpus callosum,
  6. Amygdala,
  7. anterior hippocampus,
  8. posterior hippocampus,
  9. thalamus,
  10. cerebellum (vermis region),
  11. cerebellum (dentate nucleus),
  12. mesencephalon inc. substantia nigra,
  13. pons,
  14. medulla oblongata (inferior olive region)

Dr. Bader's team always seeks to arrange the transfer of tissue to Germany directly with the pathologist in charge.

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