:: 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 20s, 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.


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

  • An excellent review of neuroacanthocytosis including chorea-acanthocytosis, McLeod syndrome, Huntington’s-disease-like 2 and PKAN is available free on-line. This is a service of the  National Institute for Biological Information that is associated with the American National Institutes of Health.
  • The Differential Diagnosis of Chorea edited by Ruth H. Walker and published in 2011. This book provides the most comprehensive source of information on the uncontrollable choreatic movements associated with NA and a number of other diseases.  ISBN 978-0-19-539351-4
  • 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
  • RareConnect.org - Connecting Rare Disease Patients Globally. Neuroacanthocytosis community
  • Visit PubMed for access to NA research in English from the Medline database.
  • Search Google for the latest on NA

:: naadvocacy.org
naadvocacy.org is the website of the Advocacy for Neuroacanthocytosis supporting patients and promoting clinical and basic research.

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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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Announcing the Third Joint Symposium on Neuroacanthocytosis

Stresa in Italy, Copyright Triitalian @ Flickr

The Third Joint Symposium on Neuroacanthocytosis, "New frontiers in Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside," will take place in Stresa, Italy at the Hotel La Palma October 30th - November 1st 2014. The conference is addressed to Neurologists, Internists, Hematologists and Biotechnologists who deal with diagnostics, clinical and therapeutic management of patients affected by Neuroacanthocytosis and brain iron accumulation diseases. The scientific issues of this meeting will cover both the identification and characterization of the new aspects of this illness as well as the developments in the clinical environment. For more information visit the Facebook Page of the Third Joint Symposium on Neuroacanthocytosis and/or the Conference Secretariat web site. Registrations will open soon! [Image Stresa in Italy, Copyright Triitalian @ Flickr]

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Strong response to call for NA research grant applications
NA Research - Copyright the Machine Project @ Flickr

The Advocacy was delighted to receive four strong candidate applications following our November 2013 call for research grant proposals. The Advocacy sought proposals for further research into the causes and possible cures for neuroacanthocytosis and, if all proposals are passed by our evaluation team, we will require significant additional funds to support the researchers' work.

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Fundraising Update

With the coming of spring also come a range of fundraisers designed to raise awareness and funds for the ultra-rare group of NA diseases. We're delighted to announce a clutch of upcoming fundraising events as well as the wonderful fundraising totals from recent walks, coffee mornings and more.

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Supporters give big to support NA
NANews23 - The Big Give

The Big Give campaign in early December is the high point of our fundraising year, supporting the research that will bring therapies to people with neuroacanthocytosis. In December 2013, 43 generous supporters donated £34,386 and the Reed Foundation gave a donation of £8,645 for a total of £43,031.

We would like to express our deepest thanks to all who participated; thanks too to those supporters who approached us after the 2013 deadline and have already offered support of £5,000 for the 2014 campaign.

Your generous contributions comprise a substantial sum for NA research.
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 Stem cells - copyright Joseph Elsbernd @ Flickr

Updates this issue from Alicia Rivera, MS, PhD, Boston Children’s Hospital / Harvard Medical School, Boston, USA ...Florian Wegner, University of Hannover Medical School, Hannover, Germany...Dr. Antonio Velayos-Baeza, Wellcome Trust Centre for Human Genetics, University of Oxford, UK...Lucia De Franceschi, MD...Plus free online review of neuroacanthocytosis from National Institute for Biological Information

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Adrian Danek presents EMINA2 E-Rare Athens
NANews23 - Adrian Danek talk in Rome

In January Adrian Danek attended the 2014 E-Rare Scientific Meeting and Strategic Workshop in Athens and presented a session about EMINA2, the ongoing research work funded under the E-RARE programme of the European Union.

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In this issue: Jon Pedersen...David Nicholson...remembering Mervyn Curry

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Can you recommend everyday tips for NA patients?
NANews23 - Patient Tips

We are starting a new section in NANews specifically for patients and would really appreciate your input. We have shared information from patients about non-medical techniques for coping with some of the symptoms of NA but would also like to hear about daily activities of patients and how they spend their time. Alex Irvine, for example, works with an artist to produce watercolours, as illustrated above.

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Come together with NA patients in five languages at Rare Connect
NANews23 - Rare Connect

Have you explored Rare Connect? This remarkable online community has the facility to be received in five different European languages. Some of you may be members of the NA site of Yahoo Groups, where activity has been quiet for a couple years but where we did currently receive communication from one new member.

While the Yahoo group still exists, we would certainly encourage all NA  patients to become a member of Rare Connect, which is a better and more secure forum for exchanging ideas and advice with other patients.

Do come and join the conversation at the dedicated NA group on Rare Connect
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