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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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Inspiring words from Italian book on life with NA

Thanks to Alessandra Gnudi who has helped us prepare a translation of the following passage from NATA PER AMARE by Silvia Cavallini, sister of NA patient Frederica. The book, which was mentioned in our last issue of NA News, has been published in Italy. Silvia said she hopes "that people who read this understand that in the hard moments, even if it isn't simple, the important thing is never give up." Authored by Silvia, the book is told in the voice of Federica and gives insights into her life with NA.


"From a careful analysis of my character I have understood that my strength, as well as my private nature, are often a shield to protect my frailty.

"It is not easy to accept a destiny of suffering but I am trying hard and praying helps me a bit: I understood that you should not pray only to ask for a miracle with the capital M, that could always happen even though it is an exceptional event, but also to thank for the small miracles of every day life that, because of the fast pace of our times, are often overlooked. I refer to a friendly look, not a pitiful one, to the union of family members who together face difficulties and life challenges and are still able to smile; these are simple gestures which warm the heart.

"Because of my situation, many times I have reflected about my life and I have come to the conclusion that, apart from my illness, the best and worst things that happened to me have something in common: love meant not only as a feeling towards the “other half of the apple” but also as an openness to the others, to all the people, no matter who they are, that we meet on our life journey.

From negative experiences I have understood how important is to learn how to love, otherwise our heart will be empty; moreover, I am gaining the awareness that, even if my journey will be a difficult climb, I was also born to love and I have to make the most of this quality which goes beyond my physical limits."


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