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 13

NA News Issue 12

NA News Issue 11
:: Join NA News

NA News

Email Address:
Remove

NA Advocacy at the European Huntington’s Disease Network 6th Plenary Meeting
NA and Huntington’s Disease affect the same part of the brain and patients struggle with similar movement disorders and other symptoms. Although much more common than NA, HD is a rare condition and at the Advocacy we were grateful for the opportunity to learn more about the science, research approaches and funding policies of the European Huntington's Disease Network (EHDN) and its American parent organisation earlier this autumn.

Adrian Danek, Benedikt Bader and Glenn Irvine with two posters by Ruth Walker and Adrian and Benedikt
Adrian Danek, Benedikt Bader and Glenn Irvine with two posters by Ruth Walker and Adrian and Benedikt
On the first weekend of September Glenn and Ginger Irvine joined Adrian Danek, Benedikt Bader and over 700 health professionals and patient group representatives at the 6th Plenary Meeting of the EHDN in Prague.  During the two days of intensive meetings and private conversation with colleagues we learned of the complexity and uncertainty of the basic science of HD and took away an appreciation of the policy of the EHDN’s American parent, CHDI, to fund research only when there is strong possibility of progress toward a potential therapy for HD.

We had preliminary discussions about possible development of animal models of ChAc that could be treated by replacing the gene that is defective in ChAc with a healthy gene.  All of this is expensive and a plan for future research needs direction.  Of immediate value, we learned that the Public Library of Science is a web-based opportunity to register and share the results of experiments, a faster and more open route than the traditional scientific journals.     

EHDN is a large, well-organised and funded infrastructure for large scale clinical trials on HD patients throughout Europe.  It has an IT platform for communication tools in many European languages and is a forum for close cooperation of basic scientists and clinicians. Here at the Advocacy we have already established close connections with professionals working on HD and representatives from the HD community have frequently spoken at NA symposia.

EHDN has also accepted an NA module on its sophisticated Patient Case Registry. While the genetic source of HD is altogether different from the NA diseases, we have much in common and look forward to a continued sharing of information with the HD clinical and research community.

For more information on the Prague meeting, see the latest issue of EHDN News.
Share | 0 Comments | Post a Comment