:: 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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NA News - Issue 14
Welcome to NA News, dedicated to updating researchers, patients and sponsors with the latest news about neuroacanthocytosis (NA) related diseases, a rare group of conditions affecting the brain. NA News is part of our coordinated effort for better information and scientific exchange about these ailments, 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 other forms of brain neurodegeneration. In our fourteenth edition of NA News you will find information on new research projects, an update on our fifth international symposium, plus fundraising and patient news.

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Fifth International Symposium sparks fruitful exchanges
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On October 1-2, 2010, over 70 scientists gathered in Bethesda, MD, for a unique joint meeting: “Brain, blood and iron: Joint international conference on neuroacanthocytosis and neurodegeneration with brain iron accumulation.” The meeting, which was the Fifth International Symposium on NA, marked the first time that a large group of researchers joined together to share their insights into the causes of neurodegeneration associated with both thorny red blood cells (acanthocytes) and deposits of iron in the basal ganglia.


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Back to Bethesda, the birthplace of the Advocacy
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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.

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Double your support for the Advocacy in Christmas Challenge
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Can you help us take advantage of a rare annual opportunity to double the value of donations towards NA research? From December 6th to 10th, the Christmas Challenge at The Big Give means that whatever amount you pledge to the Advocacy online will be matched by our major donors, directors and sponsors.

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NA gene bank wins long-term support following new grant
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Long-term storage of patient DNA has been made possible following new grant support received in Munich, a major advantage for current and future research into NA and other rare movement disorders. In June, Dr. Benedikt Bader won a grant by the Friedrich Baur Stiftung in Munich for laboratory material (consumables) needed to extract DNA from all the blood samples received for Western blot diagnostics since 2005.

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Blood samples needed for key EMINA research
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An important part of the EMINA research project is being conducted at the Medical University of Vienna, where researchers led by Dr. Claudia Roos are looking to test a novel hypothesis about VPS13A, the missing protein in ChAc patients. But to undertake their work, Dr. Roos's team needs the help of NA patients and their families in the form of blood samples. We hope you will help us support this important work.

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NA Advocacy at the European Huntington’s Disease Network 6th Plenary Meeting
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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.

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Francesca Roberts joins NA Board of Trustees
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We are pleased to welcome Francesca Roberts to the NA Board of Trustees. Francesca was born in Wales and after a year as an exchange student in the US she worked for the charity's UK office, coming in contact with people worldwide.

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Fundraising Update
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Katie completed her first-ever half marathon from and to the Dome (O2 Centre) in Greenwich near London raising over £750 to our cause. Meanwhile the Parry family organised a sponsored walk, raising more than £3500. Read the full report...

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Patient Update
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Pamela Korb: Pamela’s family in Erfurt, Germany wrote to say how valuable she finds physical activity. Ana Maria Paloma Argenta: Ezequiel writes from Madrid that the family spent a week at Port Aventura enjoying the characters in the park. Maria Rivera: Sadly we need to report the death on 2 January of this year of NA patient Maria Rivera.

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Research Update
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For the latest developments in research relevant to NA read our Research Update.

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