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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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:: Previous Issues

Advocacy appoints two new Trustees

We're happy to announce two new trustees to the Advocacy: Bella Starling and Deborah Kempson-Wren.

Bella Starling PhD FRSA is a Wellcome Engagement Fellow. Her role is as Director of Public Programmes, Central Manchester NHS Trust and she is an Honorary Research Associate at the University of Manchester.

Bella has a passion for public engagement with science and her expertise lies in strategic thinking, planning and effective communication. She combines a thorough understanding of scientific research, public engagement with science, biomedical ethics and science policy.

Bella studied at the French lycée in London where she was a classmate of Alex Irvine and moved to Edinburgh to do her BSc and PhD at the University. We're pleased to and know that her knowledge of biomedical research and patient involvement and advocacy will benefit our work at the Advocacy.

Deborah Kempson-Wren received her BA Hons 1st class from Sussex University and Masters in both Public Administration and Executive Coaching and Mentoring, the former in Australia and the latter in London. Her work has been varied and in different sectors.

Most recently she has been Programme Manager, working with the Director Safety, Health & Sustainability at the Francis Crick Institute in London where she has supported the Director through the complex challenges associated with migrating 850 science laboratories from Cancer Research UK and the MRC into the new purpose built Crick facility in Kings Cross. Key results include working strategically with the Executive to raise the profile and credibility of the new Health & Safety team and its work-to increase engagement and buy in to important policies.
Deborah’s ability to manage critical issues and working with ambiguity, her strategic and critical thinking skills and her positivity, orientation to activity and focus on solutions will bring someone who sees the big picture and help our advocacy to connect well all the parts of our important work.

We thank both Bella and Deborah for offering their talents to support the work of the Advocacy.

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