:: 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

  • 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
  • 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 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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December 6 is your once-a-year chance to double your donation to NA research
The Big Give is an annual challenge which provides more than more than £1 million to match donors' gifts to charities like the NA Advocacy. Can you support us with any amount on December 6? Here are eight important facts you need to know about the Big Give 2012.

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Sixth NA Symposium features new clinical, research and patient insights
The sixth international symposium of researchers and clinicians involved in the study of neuroacanthocytosis took place in late October, offering compelling insights and also underscoring the need for patients and clinicians to work together on data collection.

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Symposium Report: Days two and three at Ede
The second and third days were a joint meeting with colleagues from the NBIA community. Dr. Ruth Walker introduced the clinical aspects of NA and Dr. Susan Hayflick gave an overview of the NBIA diseases to provide a context for the researchers who have recently started work in these fields.

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Patient Update
David Nicholson reports that since his DBS surgery last year, "I am much better and can go out of the house and do things thatI couldn't have done before." Mardi Williams who resides in Brisbane, Queensland, Australia tells us she has been visiting with her nephew Joshua and niece Gabrielle. Froukje Vlestra and her friend Arend Eedema made the journey from the north of The Netherlands to attend the afternoon session of the Symposium. Lastly, Pete Clark who lives in Essex has met with Alex and Glenn Irvine in London and reported how he spent this year.

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Our thanks to Francesca Roberts, Board of Trustees member
We are very grateful to Francesca Roberts who will retire from the Board of Trustees in December at the end of her 3 year term. Francesca has given the NA Advocacy the benefit of her years of experience with an international relief charity as well as an English medical foundation. She now is Chief Executive of CRASH, the British construction and property industry's charity for homeless people that focuses on improving the buildings used by homeless people.

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Research Update
Alicia Rivera
This issue we look at 'The role of XK protein in Erythrocyte ion transport function', 'Vps13A regulation of phosphatidy linositolphosphate pools in mammalian cells', 'Functional analyses of ion channels in Chorea-Acanthocytosis (ChAc) patient-derived induced pluripotent stem cells and differentiated neurons in vitro' and 'In vitro modelling of Chorea-acanthocytosis (ChAc): Patient fibroblasts and their reprogrammed derivatives as human models of ChAc'.

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Genetic testing of ChAc patients: the trouble with DNA analysis
CopyrightPatrick Alexander @ Flickr as 'aspidoscelis'
We have become aware of the fact that patients, or their relatives, clinically diagnosed with ChAc may be using commercial services to have a molecular confirmation of the diagnosis. During the last NA/NBIA meeting in Ede (The Netherlands), we received an email from a man whose daughter had just been diagnosed with possible ChAc. For particular circumstances, several members of the family had had their DNA analysed by 23andme, and he was trying to find out if the genetic information they got was enough to confirm the diagnosis of ChAc given to her daughter.

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