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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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Alejo Montoliu wrote from BarcelonaAlejo Montoliu wrote from Barcelona to say he was diagnosed with ChAc almost four years ago. He is the oldest of six children and has five children of his own; his Masters in Business Administration enabled Alejo to start a professional career.

Unfortunately symptoms appeared and caused his early retirement from his business life. We wish him well and thank him for sharing his news.

Mario MonterroWe received news from Ernesto Monterro in Spain about his family. His brother Mario had Deep Brain Stimulation in October of 2014 and is recovering at home; his dystonia has disappeared but he still has movement challenges, although his quality of life is better than before the operation.

Siblings David and Pilar are not likely to benefit from DBS. We send our best wishes to all.

Mike KoutisMike Koutis, who lives in Canada, recently wrote describing his illness and then outlining how he has down days, but because of family and friends' love and support, he's usually smiling and happy. "The worst symptom by far of my disorder is the extreme pain from my constant tongue biting," Mike wrote. "It can be almost unbearable at times. To my surprise and joy I have discovered that milkshakes greatly help to alleviate my pain and with my local burger chain offering tasty and reasonably priced milkshakes, I often have two a day."

"For something so simple to have such impact on how I feel, well, I just had to let you know! So I am writing mostly to educate those who will listen about Neuroacanthocytosis (NA), and to say thank you for milkshakes! I am an average guy with a positive attitude……..SMILE AND LIVE!!!!"

AnaWe hear from Ezequiel in Madrid that Ana is finding different symptoms make movement more problematic. The neuro-stimulator inserted during her DBS operation a number of years ago is less effective and operated in a low stimulation mode but she has no chorea.

They would like to come to the US for the meeting next May but will not be able to. Ezequiel sent the photo taken in August last year on holiday in Spain.

Silvia and FredericaSilvia Chuiz has written a small book about her sister Frederica's story, which was published in Italy in June. Silvia says 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."

Information about the book can be found on the publishers' website: search for: NATA PER AMARE (Born to love)

Gordon ParryGill and Gordon Parry, who lost sons David and Mark to NA and daughter Sian to epilepsy some years ago, continue tirelessly to raise funds for both conditions. They also continue to celebrate life, and they wrote to us recently to describe a birthday present Gill organised for Gordon: "an experience including a magnificent historic quarry tour in a specialised off-road vehicle" with "the high point a descent from 1500 feet with a mile long zip line back to the start." Gill thought this would be the ideal present for Gordon, and so, duly suited and instructed, Gordon enjoyed the experience, as evidenced by these photos. They’re now back in North Wales, continuing their fundraising efforts and planning a charity concert April 30th at St AsaphCathedral-more information to follow Gordon and Gill, we salute you!

Mark and his two grandchildrenJoy Williford-Willard writes that husband Mark attends water aerobics and a daughter gifted him membership to a puzzle-a-month club which he enjoys. Mark's older brother Eric Williford attended his son's wedding earlier this year.

The Rodreguez familyTwo patients' families in Puerto Rico have met again after a couple of years. Juan Carlos Santiago wrote to say his wife Nadia and Vivian Rodrigues and her family enjoyed a reunion.

Part of their conversation was the meeting in Ann Arbor Michigan next May; both couples hope to be going.
Nadia and her family with her husband Juan Carlos

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