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
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.

:: Previous Issues

NA News Issue 20

NA News Issue 19

NA News Issue 18

NA News Issue 17

NA News Patient Special Issue

NA News Issue 16

NA News Issue 15

NA News Issue 14

NA News Issue 13

NA News Issue 12

NA News Issue 11

:: Join NA News

Welcome

WELCOME to issue 21 of NA News. For 10 years we've been bringing you news of research, patients, therapies and developments in the NA Advocacy, the only organization dedicated to supporting the global community of individuals touched by neuroacanthocytosis. As many of our readers know, we fund research as well as reporting on it, and this year we are excited to be on the verge of our most ambitious ever call for research proposals. For that reason our Big Give in December needs your support now more than ever -- we explain more below in this issue. Also in this issue we will look at patient news, report the latest from NA researchers, and encourage patients to visit rare connect to communicate with new patient Yolanda Terbit in Spain. Visit us on the Web or on Twitter at @NAadvocacy, on Facebook and on Linkedin.

Turkey meeting provides opportunity for consultation

ADRIAN Danek and Benedikt Bader were in Istanbul as Erasmus teaching staff for two weeks in the spring. They taught a course in brain anatomy and were happy to find an opportunity to meet with Zuhal Yapici in order to clarify some issues concerning data that was needed to complement the information on patient characteristics that were needed to finish up EMINA-1 research reports on red cell membrane findings prepared by the groups in Vienna and Nijmegen.

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Save the date: the Big Give makes a big difference to NA on 5 December

THE BIG GIVE plays an important part in our search to understand and treat NA, and this year we're asking all our supporters to make an extra effort to save the date: log on at 10AM GMT any day between the 5th and 18 December, and you can seize a rare chance to double your donation. The NA Advocacy will make its largest ever call for new research projects proposals in 2014, and the Big Give has never been more vital to our success.

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Italian now available on naadvocacy.org

The NA Advocacy website in now available in Italian

NEW Italian translations are available on the website; the top three tabs can be read and soon the other tabs will send you to new Italian translations. As a reminder, the best way for patients to "meet" one another is to click on the "Patients" tab on the right column and be automatically connected to the RareConnect site where, after joining the neuroacanthocytosis group, they can view other patient posts. The more people who use this site the more we will be able spread the word about NA. And if you need any messages translated to any of the five European languages you can request that it be done. Volunteers with language skills would be greatly appreciated!

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The Parry fundraising walk at Hawarden marks its 20th year

ON MAY 11 the North Wales village of Hawarden turned out for the 20th year to pay tribute to Sean, David and Mark, the children of Gill and Gordon Parry who had epilepsy and chorea-acanthocytosis. The Gladstone family again opened their large estate for the over 100 sponsored walkers who walked the 2 plus miles through a spring-flowered trail on a beautiful morning with a few showers. This has been a well-organized and enjoyable walk into fragrant woods and countryside that is seldom open except for these walks.

Alex Irvine again had the luxury of being carried by friends of Mark and David in a wheelchair improvised to be a sedan-chair. Later, many gathered to exchange memories and quench their thirst in the Glynne, a newly reopened local pub.

The walkers each organized friends to sponsor their effort that together raised £4,500 for the Advocacy and the Epilepsy Research foundation. This money is much needed to continue and expand the research into these devastating diseases.

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PATIENT UPDATE

Elyse Lakritz Weinbaum with daughters Emily and Ilana

UPDATES this issue from Alex Irvine in England, Mardi Williams in Australia, Ana-Maria Palomo-Argenta in Madrid and Elyse Lakritz Weinbaum in Michigan. We are also pleased to meet Yolanda Tebar from Spain, who has written to the Patients page on Rare Connect and is keen to correspond with other NA patients.

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RESEARCH UPDATE

THIS issue we hear updates from Dr. Lucia de Franceschi in Verona; Dr. Antonio Velayos-Baeza at the University of Oxford; Dr. Florian Wegner at the Hannover Medical School and Aaron Neiman at Stony Brook University New York.

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