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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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Back to Bethesda, the birthplace of the Advocacy
Adrian Danek
Adrian Danek
Alexander Storch and Glenn Irvine
Alexander Storch and Glenn Irvine
Alex Irvine and Adrian Danek
Alex Irvine and Adrian Danek
Antonio Velayos and Lucia De Francheschi
Antonio Velayos and Lucia De Francheschi
Benedikt Bader, Adrian Danek and Susan Hayflick
Benedikt Bader, Adrian Danek and Susan Hayflick
Dedicated supporters Carl and Betty Pforzheimer with Benedikt Bader
Dedicated supporters Carl and Betty Pforzheimer with Benedikt Bader
Doda Rudnicki, Claudia Roos, Benedikt Bader and Ruth Walker
Doda Rudnicki, Claudia Roos, Benedikt Bader and Ruth Walker
Lucia De Francheschi and Ranier Prohaska
Lucia De Francheschi and Ranier Prohaska
Mithu De explaining her poster to Mohan Narla
Mithu De explaining her poster to Mohan Narla
Patty Wood and Ruth Walker
Patty Wood and Ruth Walker
Tobias Haak, Benedikt Bader and Alexander Storch
Tobias Haak, Benedikt Bader and Alexander Storch
This year's symposium found a fitting venue in Bethesda, which was the birthplace of the Advocacy for Neuroacanthocytosis Patients in 2001. It was at that time that Ginger and daughter Alexandra Irvine first met Adrian Danek MD. Alex was examined by Dr. Danek as part of the first coordinated clinical study of a number of patients who were genetically diagnosed with a neuroacanthocytosis syndrome.

Dr. Danek went on to organise the first international symposium on NA, which took place in May 2002, and financial support for this symposium and the subsequent book, “Neuroacanthocytosis Syndromes” were the first activities of the Advocacy.

Today we are proud of what has been achieved in the 9 years of the NA Advocacy, a highly focussed and international organisation recognised for our work in helping and informing patients, clinicians and researchers. We are committed to helping fund the work of researchers -- whose work has also now attracted major European funding – as they deepen their understanding of the basic science of NA and work towards the long-term development of therapies which could slow or halt the progress of NA diseases.

The 2010 joint conference was supported by three departments of the US Government’s National Institutes of Health, the Movement Disorder Society, GlaxoSmithKline and the patient groups – Advocacy for Neuroacanthocytosis Patients, the NBIA  Association (USA), Hoffnungsbaum e.V. (Germany) and Associazione Italiana Sindromi Neurodegenerative da Accumulo di Ferro (Italy).

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