:: 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.

:: Previous Issues
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Welcome to NA News issue 16

New developments in NA research, insights on how drugs are developed for rare diseases, interim reports from our European-sponsored EMINA project -- all this and more features in this issue of NA News. If you're new to us, we're dedicated to updating researchers, patients and sponsors with the latest news about neuroacanthocytosis, a rare condition that bears similarities to and may shed light on other neurodegenerative disorders, including Alzheimer's, Huntington's and Parkinson's. In this issue we announce an important new phase for the research we fund with our 2011 Call for Proposals: for the first time we're seeking grant applications from all pertinent investigators exploring the basal ganglia. Let us know what you think of any article: just click below each story to comment. You can now find us on Facebook.

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What do spiky red blood cells have to do with neurodegeneration?
 
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After 10 years, NA researchers have refined their working hypothesis on acanthocytosis in NA patients. Using insights gained at the London/Oxford symposium in 2008, the hypothesis has been refined to: “The anomalies in the red blood cells causing acanthocytosis relate to a malfunction in the membrane that in neurons may hamper normal autophagy and lead to cell death.”

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Orphan diseases aren't forgotten: a roadmap for rare diseases with EURORDIS
 
Maria Mavis and Glenn Irvine

This summer marked a new first for the Advocacy, as we successfully competed to take part in an intensive course which helps groups like ours understand how drugs are developed and approved for rare diseases.

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Ten ways you can act now to bring a cure for NA closer
 
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We had a great reaction to this advice article last issue, so we're repeating it. You'll find practical tips for what you and your family can do right now to fight NA diseases if you're diagnosed. Although we're still learning about the disease and potential therapies, there's action you can take now to help us fight this thing: and you can start today.

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Can you help us communicate with NA patients in Asia?
 
Louise Dreher

Our three advocates allow the Advocacy to correspond with patients and families who speak French, German and Spanish, and now we're seeking help from others who can help us communicate with those in Japan, Pakistan, China and India.

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Blood samples urgently required for NA research in Vienna
 
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NA patients willing to donate blood samples can make an invaluable contribution to the Vienna-based team investigating a novel hypothesis about chorein, the missing protein in ChAc patients.

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NA research call broadens to wider basal ganglia community
 
100px-basal-ganglia-(copyright-gliageek@flickr)

The Advocacy has just made its call for NA Research Grant Proposals 2011, and the current call marks the first time the scope has been extended to include the wider basal ganglia community – including recognised investigators in Huntington's and Parkinson's diseases.

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Projects receive new NA funding
 
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This October two new grants were made in the ongoing quest to understand the causes of NA: from Pauline Williford, mother of a McLeod’s syndrome patient, and from the Advocacy.

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PATIENT FOCUS
 
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Updates from Pamela Korb in Germany… Kim Sonnet in Australia ...Alex Irvine and David Nicholson in the UK...

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In memoriam
 
100px-Marika-Ann-Critelli

Ann Lippincott, mother of the late Marika Ann Critelli, contributes a poignant poem in this issue, and we also report news of a bequest gratefully received from the family of the late Gordon Abernethy.

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RESEARCH UPDATE
 
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Read the interim report of the European Multidisciplinary Initiative on Neuroacanthocytosis projects, as well as progress reports from NA researchers in the University of Michigan and at the Technical University of Dresden.

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FUNDRAISING UPDATE
 
Gill and Gordon Parry

Again this year you have the chance to double your support for the Advocacy through the BigGive Christmas Challenge. Pledges of £12,000 to match donations are already committed by our own supporters, the Reed Foundation and Candis magazine.

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