:: 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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NA News Issue 11

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NA News

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Welcome

Welcome to NA News, dedicated to updating researchers, patients and sponsors with the latest news about neuroacanthocytosis (NA) related diseases, a rare group of diseases affecting the brain. NA News is part of our coordinated effort for better information and scientific exchange about these conditions, which, while rare, bear similarities to and can shed light on common neurodegenerative disorders such as Alzheimer's, Huntington's and Parkinson's diseases, and neurodegeneration with brain iron accumulation (NBIA). In this issue we announce new sponsorship from the US National Institutes of Health, an exciting collaboration between German and Brazilian researchers, and the latest news on patients, research and the Advocacy's funding and fundraising work.


Thank you for reading!




National Institutes of Health to sponsor joint Symposium
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The Advocacy has just received news that the National Institute of Neurological Disorders and Stroke, a group within the US National Institutes of Health, is to be a sponsor of a joint International Symposium in 2010. Titled “Brain, Blood and Iron: Advances in the Cell Biology of Neurodegeneration,” the 2010 symposium in the US will bring together our diverse community of researchers, clinicians and patients.

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NA Centre of Excellence marks a major new collaboration
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International research collaboration on the NA group of diseases took an exciting step forward this summer with the announcement that a new Centre of Excellence for Neuroacanthocytosis Syndromes is to be established in Brazil.

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New round of Advocacy funded research to commence

This month the Advocacy finalizes its latest research awards to researchers seeking grants to study NA.


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NA Advocacy reaches out to Spanish speaking patients
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We are pleased to announce the addition of a new Patients' Advocate for Spanish speakers. Fiona Fleming lived in Mendoza, Argentina for 20 years and presently offers both counseling and pilates to people in Kelso and the Borders, Scotland. The Advocacy is also delighted to offer patient advocates for French (Anne Depaulis) and German (Louise Dreher) speaking patients.

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Speech expert offers insights on NA patient challenges

As a Speech and Language Therapist working with NA patients Debbie Bloch works to help patients and their families understand more about the communication and swallowing difficulties common to these diseases, and how they might better manage their condition.


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You can help find the cause of NA
Patients and their families responded generously to the request in the last issue of NA News to support the essential research into neuroacanthocytosis with tissue donation. We are very grateful.

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Patient Focus
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Hear the latest news and coping tactics from NA patients around the world. Ana Maria Palomo Argenta… Pamela Korb… Marika in California… Susan Hills… Alex Irvine… Pete Clark...

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Research Update
Research projects begun in summer and autumn 2007 have now generated many results from Munich, Verona, Nijmegen, New York and Oxford. Plus: Dr. Benedikt Bader presents to the German Parkinson Congress, March 2009.

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Fundraising
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There is a great opportunity to double the size of your donation this year and find out about the fundraising efforts of supporters around the world. 

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