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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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Symposium Report: Days two and three at Ede

The second and third days were a joint meeting with colleagues from the NBIA community. Dr. Ruth Walker introduced the clinical aspects of NA and Dr. Susan Hayflick gave an overview of the NBIA diseases to provide a context for the researchers who have recently started work in these fields.

Alex Irvine, Froukje Vlestra and Arend Eedema. For more photos from Issue 19 of NA News visit our Facebook Page.
The meeting continued with reports from the EMINA researchers as well as reports from Advocacy-supported researchers:
Dr. Lucia de Franceschi discussed the further developments to her two published results that found that the absence of VPS13A affected the development of red blood cells.
Aaron Neiman PhD, from Stony Brook University, New York, who was recently funded by the Advocacy, described his experience studying VPS13 in yeast which we hope will lead to an understanding of its function in humans.
We also heard a wide range of talks on NBIA, a group of usually young-onset diseases that in some cases display the spiky red blood cells that are a characteristic of NA. Topics included some very recent genetic discoveries, and insights into the pathology of these disorders.
Additionally, for the first time at a NA Symposium, the perspective of a patient's day to day life was presented in Ede. Alex and Ginger Irvine combined a slide show with comments by Alex on her LightWriter. They covered the topics dressing and eating, speaking and drinking, exercise and games, friends visiting and fundraising events. To introduce their talk Alex pushed Ginger in the wheelchair to the podium!

Finally, in his meeting summary, Dr. Adrian Danek stressed the goal of “trial readiness”. This important principle describes the availability of information summarising an individual patient´s findings so that, once promising treatments become available, no time is lost in informing patients, and figuring out who is eligible to participate in clinical trials. Trial readiness in ChAc can only be achieved if patients and clinicians work together on data collection and data completion in the NA registry.

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