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:: 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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EMINA: neuroacanthocytosis research wins major European funding
The importance and value of research into NA group diseases has been recognised by the first major funding award from Europe: grants totalling €650,000 over three years, awarded by the European Union initiative E-RARE.
(l to r): Benedikt Bader, Giel Bosman, Chrystelle Latxague, Alexander Storch, Rainer Prohaska, Stefanie Rungaldier, Francois Tison, Angelika Klucken, Ody Sibon, Claudia Roos, Adrian Danek, Florence Gauzy, Zuhal Yapici. Not pictured are Hans Jung, Thomas Kloppstock, Tobias Haag, Thomas Meitinger, Holger Prokisch.

"Since 2004 the generosity of the Advocacy's supporters has allowed us to help launch new research projects with seed money grants, which we always hoped would attract major funders like E-RARE," said Glenn Irvine, co-director of the NA Advocacy. "We are absolutely delighted to see that this has now happened."

The European Multidisciplinary Initiative on Neuroacanthocytosis (EMINA) is a group of five European leaders in the study of neuroacanthocytosis who have been jointly awarded research grants of around €650,000 over a three year period to advance clinical and basic science studies into neuroacanthocytosis. The group was brought together by Adrian Danek MD and Benedikt Bader MD, leaders in the study of neuroacanthocytosis at Ludwig Maximilians University, Munich, Germany.

"EMINA promises profound discoveries that will have a direct impact on the understanding and treatment of the neuroacanthocytosis syndromes," Prof Danek said. He also expects that the EMINA project’s findings will influence the research into other neurodegenerative disease including Huntington’s disease.

EMINA researchers (pictured) gathered in Munich for a kick-off meeting in April, which was also attended by associated researchers Prof. Thomas Meitinger, Prof. Thomas Klopstock and Prof. Alexander Storch, who will interact closely with the EMINA project. During the meeting all partners got to know each other and agreed on a detailed timeline and specific tasks to be done by each partner. In Germany, Austria, The Netherlands and France, the EMINA project started officially on 1 May, with  Turkey to follow this summer. The coordinating team in Munich thanks Mrs. Michaela Girgenrath at the Federal Ministry of Education and Research (Bonn, Germany) and Mrs. Christine Henkel and Mrs. Petra Erhart at the University of Munich for their help in enabling a smooth start to the project.

EMINA projects

Specifically the EMINA work will include:

  • Preparing for future experiments including drug testing by modelling NA diseases in fruit flies (drosophila) to be done by Ody Sibon PhD at the University Medical Center, Groningen, The Netherlands.
  • Further study of the difference between healthy red blood cells and those affect by NA with a focus on vesiculation, the life sustaining processes within cells, by Giel Bosman PhD at the Radboud University Medical Center, Nijmegen, The Netherlands.
  • Analysis of anomalies in red blood cell membrane composition by Ulrich Salzer PhD and Rainer Prohaska PhD at the Medical University of Vienna, Austria.
  • Coordination, further development of the clinical database and study of donated brain tissue by Adrian Danek MD and Benedikt Bader MD.
  • Development of diagnostic methods including Western blot analysis and the classification of the NA diseases by Zuhal Yapici and Murat Emre , Istanbul Faculty of Medicine, Turkey.
  • Study of deep brain stimulation outcomes in NA patients by Francois Tison MD, PhD, Centre Hospitalier, Universitaire de Bordeaux, France.


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