:: How to recognise Neuroacanthocytosis

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
  • WeMove.org is dedicated to educating and informing patients, professionals and the public about the latest clinical advances, management and treatment options for neurologic movement disorders.



:: 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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The Advocacy for Neuroacanthocytosis Patients is Registered Charity Number 1133182 with the Charity Commission for England and Wales.

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Welcome
Welcome to NA News, dedicated to updating researchers, patients and sponsors with the latest news about neuroacanthocytosis (NA) related diseases, a rare group of diseases affecting the brain. NA News is part of our coordinated effort for better information and scientific exchange about these conditions, which, while rare, bear similarities to and can shed light on common neurodegenerative disorders such as Alzheimer's, Huntington's and Parkinson's diseases, and neurodegeneration with brain iron accumulation (NBIA). In this issue we announce major new EU funding, details of our fifth symposium, and the latest research news, plus the sad news of the loss of NA patient Marika Critelli in California. Thank you for reading.


Brain cell death in focus at Fifth International Symposium
Ruth Walker
The complete programme has been announced for the fifth international symposium on Neuroacanthocytosis. Scheduled for 1-2 October 2010, this year's meeting is the Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation.

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EMINA: neuroacanthocytosis research wins major European funding
(l to r): Benedikt Bader, Giel Bosman, Chrystelle Latxague, Alexander Storch, Rainer Prohaska, Stefanie Rungaldier, Francois Tison, Angelika Klucken, Ody Sibon, Claudia Roos, Adrian Danek, Florence Gauzy, Zuhal Yapici. Not pictured are Hans Jung, Thomas K
The importance and value of research into NA group diseases has been recognised by the first major funding award from Europe: grants totalling €650,000 over three years, awarded by the European Union initiative E-RARE.

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Can you point the way to new seed funding?
The NA Advocacy has launched a new search for seed funding to support two extremely promising research proposals. Any readers who may have contacts in private foundations or charitable trusts are encouraged to contact the Advocacy so that we may help kick-start these projects.

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NA in Latin America: Argentina and Brazil
IS13-Brazil photo100px
Following last issue's announcement of a new Centre of Excellence for NA Syndromes in Brazil, Adrian Danek, Benedikt Bader and Gertrud Kwiatkowski from Ludwig Maximilians University, Munich spent a week in Brazil in October 2009, meeting with leading neurologists at the University of Sao Paulo.

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NA Advocacy is now a registered charity
Charity Commission of England and Wales
The NA Advocacy has now been incorporated and registered by the Charity Commission of England and Wales. This is a development which is set to offer added benefits in our efforts to raise much needed funds to further understanding of this disorder.

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Rare Disease Day highlights need for research
Iain Gray MSP and Sheila Averbuch
February's Rare Disease Day gave the NA Advocacy an opportunity to attend a special reception in the Scottish Parliament designed to raise awareness among decision-makers of the need for systematic, properly funded research into rare conditions.

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Patient Focus
Marika Ann Critelli
Very sadly we report the death of NA patient Marika Ann Critelli of Santa Barbara, California, who passed away in November. Her mother Ann writes about Marika in this issue. Plus: Susan Hills of England writes about the value of keeping active, and researchers seek reports of any patients who have experienced Deep Brain Stimulation.

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Research Update
Akira Sano, M.D., PhD
Akira Sano, M.D., PhD, Professor in Psychiatry, Kagoshima University updates us on research in Japan. Plus publications from Dr Rainer Scheid of the Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany; Pedro J. Garcia Ruiz, MD Department of Neurology, Fundacion Jimenez Diaz, Universidad Autonoma and CIBERNED, Madrid, Spain and Benedikt Bader, M.D. Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universitat, Munchen, Germany.

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Fundraising
Gill and Gordon Parry, our long term supporters and parents of two sons who succumbed to NA have organised another sponsored walk in aid of NA. On May 15 over 60 people joined the group in North Wales.

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