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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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NA Centre of Excellence marks a major new collaboration
From left to right: Dr. Benedikt Bader, Prof. Adrian Danek, Dr. Guilherme Riccioppo
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.

The collaboration has been spearheaded by  Prof. Adrian Danek and Dr. Benedikt Bader of Germany, joined by Dr. Guilherme Riccioppo from the University of Sao Paolo-Ribeirao Preto. Dr. Riccioppo visited Munich in August to learn the techniques for diagnosing chorea-acanthocytosis from blood samples as preparation for launching the method in Brazil.  

Prof. Danek, Dr. Bader and Mrs Gertrud Kwiatkowski are to visit Ribeirao Preto later this year and will discuss his findings and deal with any challenges encountered. It is hoped that the diagnostic blood test for chorea-acanthocytosis, which has proven so successful in Germany, can be offered throughout Brazil by the end of 2009.

“Early diagnosis of the NA group of diseases is so important for sufferers and their families, and we're very hopeful that this new collaboration will deliver benefits throughout Latin America," said Glenn Irvine, co-founder of the Advocacy for Neuroacanthocytosis Patients.

During their Brazil visit, Prof. Danek and Dr. Bader will also report on the latest medical science and research on the neuroacanthocytosis syndromes, laying the foundation for the Centre’s work in Brazil and across Latin America. The Centre will be housed with a group, led by Prof. Vitor Tumas and Dr. Guilherme Riccioppo, which currently specializes in the diagnosis and treatment of movement disorders.

The Centres in Ribeirao Preto and Munich plan to pool future knowledge, share the collection and analysis of tissue from NA patients, use the NA databank and cooperate when applying for grants internationally. Research at both Centres concentrates on neurodegenerative processes in cognitive and motor skills systems, which are responsible for NA as well as for other illnesses.
 
Prof. Danek, Prof. Vitor Tumas, Dr. Bader and Dr. Riccioppo would like to thank the Bayerische Forschungsallianz (Bavarian Research Alliance - Munich, Germany) and the Bundesministerium für Bildung und Forschung (German Ministry of Education and Research - Berlin, Germany) for their financial support. They also send their thanks to the Advocacy for Neuroacanthocytosis Patients (London, UK) for meeting the cost of the chorein Western blot and Prof. Hans A. Kretzschmar from the Zentrum für Neuropathologie und Prionforschung (Neuropathology and Prion Research Centre in Munich, Germany) for technical and logistics support.
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