Cover Page»
:: 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.

  • Patients' Centre
  • Clinic
  • Library
  • Symposia
  • NA News
  • Research
  • Fundraising


:: Previous Issues
NA News Issue 14

NA News Issue 13

NA News Issue 12
:: Join NA News

NA News

Email Address:
Remove

Call for NA Research Grant Proposals 2011
Copyright TPMartin @ flickr
The Advocacy will send the Call for NA Research Grant Proposals 2011 later this year. This will be our third round of research funding investment and we expect it will offer total seed money of $150,000. The call will be open to academic investigators internationally and applications will be reviewed by our scientific panel. We are particularly seeking projects which offer a strong prospect for moving scientific understanding toward therapies that will slow, stop or prevent brain cell death. If you would like to be notified of the call and are not already on our mailing list, contact Glenn Irvine to be subscribed.

We're also delighted to announce that, thanks to a generous grant from the family of a McLeod syndrome (MLS) patient, we will be funding proposals this year specifically for work on MSL. Groups of scientists in Switzerland and the United States are presenting their proposals for work on MSL; final proposals are expected soon and will be evaluated by our independent scientific panel.

We are not content to suffer NA endlessly and are determined to push ahead with funding research into the NA group of diseases. It is heartening to know that we are not alone, and that research into other diseases of the basal ganglia, including Huntington's and Parkinson's diseases, seeks the same goal of arresting or preventing brain cell death.

We also accept funding proposals on a rolling basis and encourage any researchers in basal ganglia neurodegeneration to contact the Advocacy for NA Patients if they have novel ideas, including investigations into the role of chorein, the protein that is missing in NA patients. Please review the current research in Research Update.


Share | 0 Comments | Post a Comment