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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.

  • Patients' Centre
  • Clinic
  • Library
  • Symposia
  • NA News
  • Research
  • Fundraising


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National Institutes of Health to sponsor joint Symposium
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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The two-day symposium will address the causes of brain cell death in neuroacanthocytosis and neurodegeneration with brain iron accumulation. The organizing committee -- headed by Dr. Ruth H. Walker (Mount Sinai School of Medicine, NYC) and Professor Susan Hayflick (Oregon Health & Science University, Portland, OR) -- will convene world-leading experts in these diseases and in biological systems to explore these rare diseases.

Recent advances in NA research include the identification that a malfunction of autophagy (the body’s process that removes dangerous materials from cells) may be related to brain cell death in NA and NBIA. Discussion at the Fourth International Symposium in the UK identified this as an area of potential relevance to the field, given the potential functions of affected protein in membrane transport. The US symposium will offer the first opportunity for experts in autophagy to study these syndromes.

“I am delighted that the NINDS has determined that these rare diseases merit its support," Dr. Walker said. "This meeting provides a unique opportunity for experts in diverse fields to share information. This will also be an excellent opportunity for junior scientists to become involved in the field, as we plan to provide scholarships to facilitate their involvement."

Support for the symposium will be shared by the Advocacy for Neuroacanthocytosis Patients and the NBIA Disorders Association in Germany, Italy and the United States.
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