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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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Spanish documentary sheds light on life with NA

In November 2015 Luis Ernesto Montero sent us this site to view a film about his family, narrated by his mother Pilar: Mujeres.son (28/10/15) | Canal Extremadura. This story was first broadcast on Spanish television in an interview with Pilar, a remarkable 77 year old mother of five children from Moraleja Spain. Four of her youngest children have neurocanthacytosis.

From the film:

"All four children started their lives as happy, healthy, creative young people, but as they reached their mid-20s, their parents were forced to watch them slowly lose their mobility, their speech and their independence.

Pilar’s life became an endless round of doctors, psychiatrists, conflicting diagnoses and grief. Carlos, her second son, drowned in a tragic accident. After Pilar’s husband died, she continued to dedicate her life to making sure her children were as comfortable as possible and to seeking out new research and technology that would help manage their condition to the best of their ability.

Luis Ernesto the oldest son and the only child to be completely free of the disease, had been living in London where he worked as an artist. He has now returned to Spain to help his mother take care of his siblings. While living in London, he found out about the website, which is dedicated to helping NA patients find out about the latest research and links for a network of contacts which support and inform others in similar situations.

Ernesto and Pilar work as a team to help their family and to raise awareness of neurocanthacytosis, of which there are less than 1000 reported cases worldwide. They both feel strongly about the urgent need for more research into this disease and the funding to make it possible.

Thanks to Pilar’s strength of purpose and total dedication, her youngest children are all well cared for by a team of dedicated professionals. Now, with modern technology and new medical discoveries they can enjoy family gatherings and the planning of exciting excursions in their future.”

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