:: 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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Double your donations on 4 December with the Big Give

The Big Give 2014

The Big Give is here again…


You may know that 4 December is our once-a-year-chance to double the value of any contribution you make to help fund NA research and our patient support work. Patients like our own daughter Alexandra lead lives that have been severely affected by neuroacanthocytosis, but our work is helping her and so many other patients with NA group diseases, including McLeod’s syndrome and Huntington’s-like 2.

The research we fund is currently pursuing two, extremely promising lines of inquiry (see Ruth Walker's article, Stresa Symposium reveals significant insights for NA research, in this issue) and your gift, of any size, will make a vital contribution.

Just fill in the simple form with credit card details, and your donation will be doubled, even though contributions do not show up immediately on the Big Give website.

We have excellent news this year: an extra special matching fund of £5,000 ($8,000) means that regardless of whether you are able to make a donation through the Big Give website, we will be able to match the first £5,000 ($8,000) in donations, even those you make directly to the NA Fund.

If you can give online at the Big Give, that's wonderful! If you would prefer to donate direct, please use the following details:

For dollar donations of over $500
It is best to send these to us at 32 Launceston Place, London W8 5RN, England as a check payable to “Anglo-American Charitable Foundation”.

For dollar donations less than $500
These dollar donations can be sent to 32 Launceston Place, London W8 5RN, England as a check payable to “NAFund”.

For any donations in Euros
Please send these directly to our German colleagues. Donations should be made to our chief NA researcher in Hannover:

Dr Florian Wegner, Medischinische Hochschule Hannover
Fondnummer 19551261
Acct no 370 371, Sparkasse Hannover
BLZ 250 501 80, Remarks :Fonds 1955 1261
IBAN: DE 15 250 501 80 0000 370371

The Big Give makes a big difference to the NA Advocacy. Thank you for any amount, big or small, that you can give this 4 December!

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Stresa Symposium reveals significant insights for NA research
by Ruth Walker

Stresa Symposium

We are delighted to report some encouraging progress from NA researchers funded by the Advocacy, including vital new insights into the function of chorein, the coded protein of the chorea-acanthocytosis (ChAc) gene VPS13A first discovered 13 years ago. The developments were reported at News Frontiers in Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside.

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Charity concert a success in London
The Linos Piano Trio

A very special fundraiser was held in November in London, with 80 guests gathered for an evening at the private home of Hazel and Vernon Ellis to enjoy a concert by the Linos Piano Trio. Konrad Ellas-Trostmann (violin), Vladimir Waltham (cello) and Prach Boondiskulchokd (piano) performed the CPJ Bach trio that they recently recorded and two marvellous pieces by Robert Schumann and Ludwig van Beethoven. The Schumann and Beethoven were written by composers with profound difficulties as a tribute to NA patients.

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A warm tribute to Prof. Hans Kretzschmar
Prof. Hans Kretzschmar

It is with great sadness that we notify our readers about the death of Prof. Hans Kretzschmar of the Munich Center for Neuropathology and Prion Research, a man who did a tremendous amount for neuroacanthocytosis patients.

Prof. Kretzschmar passed away at the age of just 61 on January 12, 2014 after a short course of a treacherous illness that he had carried with amazing grace.

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