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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.

CLINICAL SIGNS

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 www.naadvocacy.org 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 amazon.com
  • 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



:: naadvocacy.org

naadvocacy.org 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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Patient Focus
Susan Hills in England writes of experiencing good days and bad days at present. "I have gained a little weight so I do not feel as exhausted," she reports. "I am trying to keep my weight up to 44.5Kg but it is hard work. I think my movements use up some of my calories."

Susan Hills
Susan also takes motilium which she finds helps food move faster through the digestive tract and helps the muscles too move more smoothly. New tests may help with arm movement and pain, she tells us, but dizziness is a constant source of frustration. "I try to keep active because this really helps me feel stronger; any little exercise helps," Susan says. "I have a great neuropsychologist who helps me feel better mentally, as I can feel depressed at times. He even got me a psychiatrist and support worker, who takes me out about once a fortnight, so this is nice."

 

At the Advocacy we were so sad to hear of the death of NA patient Marika Ann Critelli of Santa Barbara, California, who appeared in the last issue of NA News after completing a one-mile charity walk. Marika died in November, 2009, aged 31. She had graduated with honors from the University of California Davis, spending the academic year 1999-2000 at the Universidad Complutense in Madrid, and she travelled extensively, visiting Mexico, Argentina, Peru, Chile, Tanzania, Kenya, Mauritius, New Zealand, Australia and Europe. A tributes page is online for Marika here.

Marika Critelli

Marika's mother Ann Lippincot wrote to us:

Marika was "plucky". While there were many things she no longer could do (e.g., ride a bike, play tennis, read a novel), she did not let her disability slow her down. In fact, she did not perceive herself as being disabled. She charged forward each day, out into the social world she so loved. Her sense of humor was a delight. June, a lady at the bank where she did business (also where she visited 2-3 times a day to use their restroom and internet), cried when we told her the news of Marika's passing. She also shared with me that she asked Marika one day where she was going next. "Bermuda," my daughter responded. "And how are you going to get there?" asked June. "I think I will walk," Marika said with a twinkle in her eye. June confided in me that prior to that, she had made assumptions about people with disabilities, that they didn't have a sense of humor. She said, "Marika taught me to question my assumptions." Marika's psycho-therapist told us that Marika had decided that if she was to end up in a wheelchair, it would be one that was bright red.

All in the NA community are deeply grateful to Marika and her family for making a donation of brain tissue, an invaluable contribution to researchers' progress towards finding a cure for NA group diseases.

Patient experiences with deep brain stimulation (DBS) are being sought by researchers involved in the EMINA project. A key aspect of the project is the evaluation of the value of DBS in alleviating movement problems and other symptoms; researchers also want to evaluate long-term effects or risks in patients with neuroacanthocytosis. If you are a physician with a patient who has had DBS please contact Prof Francois Tison of the University of Bordeaux Hospital, who is assembling patients' clinical reports. If you know of a patient who has had DBS please contact Ginger Irvine at the Advocacy to ensure that your case is included.

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