:: 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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Registrations open for the Third Joint Symposium on Neuroacanthocytosis

Stresa Shoefront by Luca Rossato @ Flickr

The Third Joint Symposium on Neuroacanthocytosis takes place October 30-1 November, bringing together an expert group of researchers, consultants and interested parties to share recent activities in the search for further knowledge about two rare diseases. New Frontiers in Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside will be held in Stresa Italy and the agenda includes many of our Researchers and Clinicians. [Image Stresa in Italy, Copyright Luca Rossato @ Flickr]

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Human Emryonic Stem cell -- Copyright Annie Cavanagh. Wellcome Images on Flickr

We are pleased to present research updates from investigators supported by the Advocacy. The Scientific Review Panel led by Professor Roger Albin at the University of Michigan collected and carefully considered evaluations from experts in each specific scientific area and recommended supporting these excellent proposals. The Advocacy supporters joined in raising most of the money needed and the additional financial resources for all these projects. Our ability to continue funding research is reliant in large part on the generosity of our supporters, and the annual Big Give coming this December will be an important opportunity for us to raise research funds. Updates this issue from Florian Wegner, University of Hannover Medical School, Hannover, and Alexander Storch, Dresden Technical University, Germany...Dr. Antonio Velayos-Baeza, Wellcome Trust Centre for Human Genetics, University of Oxford, UK...Dobrila D. Rudnicki at Johns Hopkins University, Baltimore Maryland, USA.

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Everyday tips for NA patients

Image Copyright Iain Watson on Flickr

Welcome to this new section in NANews specifically for patients. Here, we'll share non-medical techniques some patients find helpful for coping with some of the symptoms of NA, and we also share details about daily activities of patients and how they spend their time. In this issue we hear of patients' experience with acupuncture and essential oils, plus tips for coping with involuntary movement and tics. Thank you to all who have contributed, and keep your experiences coming!

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FUNDRAISING - Award-winning Linos Trio supports NA with London concert

Join us in London November 10th, a highlight for NA Fundraising in 2014, with a concert featuring the award-winning Linos Trio. With Prach Boondiskulchok (piano), Konrad Elias-Trostmann (violin) and Vladimir Waltham (cello), this is not an event to be missed. The programme features C.P.E.Bach's Piano Trio in G Major Wq.90 no. 2, Schumann Trio in G Minor, Op.110 and Beethovan's Piano Trio, Op.97 'Archduke'. Konrad, Vladimir and Prach share five nationalities, matched by the similarly wide range of their musical backgrounds, which include historically informed performance practice, composing and improvising. All of this is brought together to support a dynamic and refreshing vision of making music.

The players brought brilliance and élan [to the work] . . . performed with control and tonal intensity . . . the ensemble between these three players was superb . . . Their winning way with slow sustained lines . . . This was a slow-burning, gripping performance, the playing rich and passionate” - The Strad.

The Advocacy is grateful to Vernon and Hazel Ellis for presenting this programme to support patients and families and to contribute to research. A silent auction and raffle will be included on the evening. 7 for 7.30 pm at 49 Queen's Gate Terrace, London SW7 5PN. Voluntary donation of £35 to include wine, canapés & supper. Cheques payable to NA Fund. To reserve a place email Vernon@vef.org.uk.

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Join us for a special Christmas fundraiser

Early December will see the opportunity to purchase gifts for Christmas at the home of Alex, Ginger and Glenn Irvine in London. This charity craft event on 5 & 6 December will display a fabulous selection of work - come join us!

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Fundraising round-up

We are grateful as always for the remarkable commitment offered by our supporters. Here's a round-up of all the latest fundraising news. Thank you to everyone giving their time and funds, and for helping us raise awareness for the ultra-rare group of NA diseases.

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Ed Ayala

In this issue: Elyse...Mike Koutis...Ed Ayala

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In Memoriam - Claudia Schuchert

Claudia Schuchert

We are very sorry to learn of the death of patient Claudia Schuchert, who died on July 11, 2014 on holiday in Italy.

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What does it take to be a Patient Advocate?

Louise Dreher

Louise Dreher, our advocate for German-speaking patients, has shared why she volunteered to be a patient advocate, what her role is and why it is important to patients and the Advocacy:

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Comments: Kudos from our readers

Image copyright Jordan on Flickr

We are delighted to receive this feedback from our readers. Thank you!

"I admire and support the work that you and Ginger are doing." Bob A., USA

"I am always full of admiration when I read your newsletter. You have done, and are doing an amazing work." Anne S., France

"We are full of admiration for what you have achieved with the Advocacy." Elfie M., London

"Thank you for all you do, and have done, towards research and aknowledgement of this cruel disease." Indian mother of patient in US

"I am impressed with what you have achieved - the newsletter, the symposia, all the communication and increased awareness about NA and related diseases and the patient registry.  Wow!   So let me know who/what to make the check out to and where to send it." Richard S. US

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