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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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Upcoming NA symposium focuses on information sharing with patient groups

NA symposium
The upcoming NA symposium, set for 26-27 October 2012, aims to unite scientists from a number of fields as well as to give patients and their families a chance to meet and speak with researchers.

Hosted in The Netherlands, this will be the Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation. Titled "New breakthroughs in NA/NBIA -towards unravelling underlying mechanisms," the symposium is organised by Prof. Dr. Ody Sibon (Groningen) and Dr. Giel Bosman (Nijmegen).

The gathering will also feature other prominent NA clinicians and researchers, including Dr. Adrian Danek from Munich, Dr. Ruth Walker from NYC and NBIA researchers, including Dr. Susan Hayflick from Oregon and Dr. Paul Kotzbauer from the US.

“The goals of the symposium are to bring scientists from various fields together to strengthen collaborations and to initiate new ones," Dr. Sibon said. "Another goal is to introduce new young researchers in the field. We also want to give patients and patient organizations the opportunity to ask questions and to obtain information from NA and NBIA scientists and clinicians, and thereby to promote the exchange and intensify the bonds between patient organizations and scientists."

Families are invited to attend free of charge a round-table discussion Saturday afternoon on "patient organizations and their role in EU funded projects." The NA Advocacy will be represented by Ginger, Alex and Glenn Irvine.

For more information on the symposium, go to www.NANBIA2012.eu.

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