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:: How to recognise Neurocanthocytosis

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



:: 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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Fundraising Update

Donations to Big Give raise more than £27,000 for NA

Our thanks to 93 generous donors who responded to our appeal at the end of 2011 with donations totalling £27,748 ($44,058 €33,629).  This  included  the on-line donations that were matched though the Big Give on-line campaign.  The Big Give had technical problems during this campaign and we are especial grateful to those who persevered (especially to our California friends who were up in the middle of the night to get in on the matching).

Ruth Walker
Ruth Walker
Dr. Ruth Walker donates book royalties to NA

Our grateful thanks go to Dr Ruth Walker who has donated the royalties on her book Differential Diagnosis of Chorea to NA. The book which she compiled and edited was published by Oxford University Press Inc ISBN 978-0-19-539351-4 in 2011 and is an important contribution to the diagnosis and management of 33 diseases including the neuroacanthocytosis diseases that normally show the irregular and uncontrollable movements called “chorea”.  The book that contains chapters written by international experts is an invaluable resource for neurologists called to diagnosis these rare and unusual conditions.

Hawarden Fundraiser in Wales set for 12 May

The walk for NA in Hawarden, North Wales will take place again this May, on Saturday the 12th.

Last year over 120 walkers raised just over £3500 for our cause; thank you to all the walkers and to Gordon and Gill Parry who organise the event. Alex Irvine was once again carried over the last leg by local stalwarts in her adapted sedan chair!

James Clarke
James Clarke
Four Men in a Boat reprise

The force behind the 4 men in a boat event that took place last August, James Clarke, who has a degree in music from Durham University, has promised he will be organising another rowing event this summer -- where, when and who are to be announced soon.

James is a former world champion in the coxless fours based at the London Rowing Club in Putney.

Sponsored series of events for NA from Free Schools London Division

Our thanks to Françoise Ryder for a new series of fundraising events to support NA research. Françoise attended the Lycée Français Charles de Gaulle in London with Jennifer Irvine Nanton, sister of NA patient Alex Irvine. At her office in the Ministry of Education their group called Free Schools London Division has chosen to support NA patients with a series of sponsored events until December 31 2013. 

A cake sale, which was the first event, raised £72.00 with more small fundraising events to follow. To donate via their website click on: https://mydonate.bt.com/fundraisers/fsglondon1 The site is in the name of Vicki Stewart, Francoise's colleague.

Hadrian's Wall - image copyright Anita 363 @ Flickr
Hadrian's Wall
Hadrian's Wall fundraiser

Fergus Cummings, graduate of the London School of Economics and working in economic analysis at the Bank of England, intends to join a fundraising trek along Hadrian's Wall, the Roman wall that separated England from the northern tribes. Fergus is an avid international traveller who has recently visited the eastern Mediterranean and Argentina. The trek is set for 23-24 June 2012, and the north of England should present different challenges.


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