NA News

:: 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.

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 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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Welcome to NA News Issue 17
In this issue we're pleased to announce the Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation, this October. We also reveal the two research projects selected following the Advocacy's call for proposals in 2011, and we review progress on funded research to date including the 120 confirmed diagnoses that have resulted from the Advocacy sponsored diagnostic test. Please consider supporting NA fundraisers coming up this spring, including the London Marathon and Rare Plants for Rare Disease research. Let us know what you think of any article: just click below each story to comment.

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Details revealed of October Symposium on Neuroacanthocytosis and NBIA

Details have been published of the agenda for the The Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation. Delegates will gather in The Netherlands from 26-27 October 2012 for "New breakthroughs in NA/NBIA - towards unravelling underlying mechanisms."

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Winning grant applications announced by the Advocacy

A tremendous response was received to the Advocacy's call for research applications at the end of 2011. After review by our independent scientific panel, two of the seven research grant applications were approved for Aaron Neiman, Stony Brook University, New York and Florian Wegner, Alexander Storch and Andreas Hermann at Dresden Technical University. Additionally a third award was made directly by the family of NA patient Mark Williford to Alicia Rivera PhD at Children’s Hospital, Harvard Medical School, Boston.

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New trustees join the Advocacy to augment business development capabilities

New trustees have joined the Advocacy: Eva Stock, originally from Boston and now living and working in London as Director of Sponsor Relations for FOCUS, brings marketing and business development expertise to the Board. Amin Somji, originally from Zanzibar and now in Kenya, is a Chartered Accountant whose experience will be invaluable to the Advocacy in planning for further growth.

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NA Advocacy wins GlaxoSmithKline Rare Disease award

The Advocacy was honoured last month to receive a €1,000 prize and recognition from GlaxoSmithKline Rare Diseases in a competition that sought new perspectives on how novel medicines can be developed for the underserved population of rare disease sufferers. A paper by Glenn Irvine of the Advocacy was awarded one of seven shortlist awards by GSK.

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Research Update

In this update we report on progress from Lucia de Franceschi and Giel Bosman and from Alexander Storch, as well as an update on EMINA. Also in this issue is a list of recent articles published or at press from Föller et al, de Franceschi et al and Prohaska et al.

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Free diagnostic service delivers 120 confirmed diagnoses of ChAc

Figures just released by Benedikt Bader's team have shown the effectiveness of the patient registry and the free diagnostic service supported by the Advocacy: in three years doctors have submitted 397 blood samples from 24 countries; the results are 120 positive diagnoses of chorea-acanthocytosis (ChAc). Of the 265 cases that clearly did not have ChAc, follow-up has frequently led to positive diagnoses of other conditions including McLeod syndrome, Lubag, MPAN, PKAN and neurodegeneration with brain iron accumulation (NBIA).

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Gardeners unite for NA: London Marathon and "Rare Plants for Rare Disease Research"

Keen gardeners at opposite ends of the UK are organising dedicated NA fundraisers this spring. David Lewis, head gardener at the Virgin Roof Gardens Kensington, will run the London Marathon on 22 April; meanwhile Edinburgh gardening blog Stopwatch Gardener is sponsoring a sale of unusual plants, "Rare Plants for Rare Disease Research".

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Fundraising Update

North Wales sponsored walk...Big Give update...Ruth Walker book royalties..London Four Men in a Boat...New series of London fundraising events...Hadrian's Wall trek

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NA News makes a difference - kudos from our readers

We've received the following messages of support from readers who appreciate the Advocacy's work and the information they see in every issue of NA News. Thank you so much to all of you for sending us your feedback.

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Corrections to Patients Special Issue of NA News

We apologise for the incorrect labelling of our cover page for the special patients' edition; the In Memoriam section should read: "From Australia, Rob's sister Raine Petersen encourages you to get in touch if you'd like to talk about families and NA".

In the Americas' section Kristi Curtis wrote about a speech therapy which should be noted is the Silverman technique not the Sullivan technique. More information can be found on their website: http://www.lsvtglobal.com/

We do make corrections on the on-line page so if you wish to refer to it or pass it on to someone you know, visit NA News Corrections.

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