:: 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

  • 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
  • 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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Call for NA Research Grant Proposals 2011
 
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The Advocacy will send the Call for NA Research Grant Proposals 2011 later this year. This will be our third round of research funding investment and we expect it will offer total seed money of $150,000. We also accept funding proposals on a rolling basis and encourage any researchers in basal ganglia neurodegeneration to contact the Advocacy for NA Patients.

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Amid sadness and grief, clarity
 
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Speaking to people you love about preparations for after their death is never easy. But Ann Lippincott explains how a brief chat about brain tissue donation with her daughter ultimately made all the difference in coping with the grief of Marika's death.

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Practical arrangements for brain tissue donation
 
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Led by Dr. Benedikt Bader, the neuroacanthocytosis research team based in Germany is ready to give practical guidance to your doctor if your family should decide to donate brain tissue for research after death.

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Blood samples urgently needed for Vienna research
 
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Thank you to more than a dozen patients who have donated blood in support of the EMINA research project. But researchers on the project, which is being led by Dr. Claudia Roos conducted at the Medical University of Vienna, urgently require additional donations. Can you help?

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Ten ways you can act now to bring a cure for NA closer
 
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Patients and families affected by by NA diseases often experience overwhelming feelings of helplessness when first diagnosed with neuroacanthocytosis. But even though we are still learning about the disease and potential therapies, there's action you can take right now to fight the disease if you're diagnosed -- and you can start today.

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New resources for NA patients and caregivers
 
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In addition to the resources that we always show in the front page margin of NA News, here are several new information sources you may find valuable. Many are aimed at caregivers, including a helpful guide to safe swallowing.

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PATIENT FOCUS
 
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In this issue we meet Elba Nidia Figueros Nieves, who lives with her husband Juan Carlos Santiago and three children in Puerto Rico, and Froukje Vlietstra of The Netherlands. We also catch up with Pete Clark for the latest update on his progress with botulinum Toxin injections.

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In Memoriam
 
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We are sad to report the death of two NA patients earlier this year, Tim Hayes of Minnesota and Maria Isabel Aparisi of Spain, as well as the death in 2009 of Pete Ball's sister Denise Ball in the UK.

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RESEARCH UPDATE
 
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Read the latest news about research into neuroacanthocytosis, including the European Multidisciplinary Initiative on Neuroacanthocytosis projects; Purification and biochemical function of yeast Vps13 protein at the University of Michigan; and In vitro modelling of Chorea-acanthocytosis at the Technical University of Dresden.

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FUNDRAISING UPDATE
 
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A sincere thank you to everyone who helped make this year's Big Give campaign such a success. The on-line donations made to the Big Give campaign in December 2010 were matched with STG£5,000, and this month we were delighted that the Parry's annual Great Hawarden Trek for NA and Epilepsy offered further support towards NA research.

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