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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
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Brain cell death in focus at Fifth International Symposium

Ruth Walker
The complete programme has been announced for the fifth international symposium on NA. Scheduled for 1-2 October 2010, this year's meeting is the Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation. Fifty scientists from around the world will gather in Bethesda, Maryland, near Washington, DC, for the meeting, an initiative of Ruth H. Walker (pictured) and Susan Hayflick, is sponsored by divisions of the National Institutions of Health. The sponsoring NIH institutes are the National Institute for Neurological Diseases and Stroke, the Office of Rare Diseases Research, and the National Institute of Child Health and Human Development.

Both neuroacanthocytosis (NA) and Neurodegeneration with Brain Iron Accumulation (NBIA) produce acanthocytes, or spiky red blood cells, in patients. Although they differ in their genetics and in the exact location of brain cell death, research into each may contribute to an understanding of the other. Both groups of diseases have been the subject of NA symposia over the years. Interest was intensified in 2008 at our London/Oxford symposium when scientific leaders of both groups of diseases became enthusiastic about the rewards of collaboration.

The Bethesda meeting will focus on how brain cells come to die. Discussions will cover:

  • the fate of red blood cells
  • mitochondria and iron
  • cell membrane trafficking and turnover related to lipids and affected proteins phosholipase and VPS
  • autophagy ("self-eating" – one important mechanism of cell death)

Strategic plans for continuing and coordinating research into the diseases will be an important feature of the meetings. The venue will be the Doubletree Hotel, 8120 Wisconsin Avenue, Bethesda, MD. The complete program is at www.naadvocacy.org. For details and information regarding participation grants contact glenn@naadvocacy.org

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