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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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Projects receive new NA funding

This October two new grants were made in the ongoing quest to understand the causes of NA:

  • Pauline Williford, the mother of a McLeod’s syndrome patient, Mark Williford in the United States made a grant of $25,000 to the Harvard Medical School to support Alicia Rivera, PhD to study the role of XK protein in erythrocyte ion transport function. The Kell/XK complex plays a role in erythrocyte ion and water homeostasis by regulating Mg++ and K+ transport via a calcium-dependent mechanism. The proposal builds on data obtained from erythrocytes of XK and Kell knockout mice that demonstrate mild changes in ion content and transport. Soohee Lee PhD -- who has long been associated with the NA movement and delivered papers on the XK protein at four symposia organised by the Advocacy -- will participate in these studies and may provide insight into the pathophysiology of McLeod syndrome erythrocytes. The grant is the inspiration of Rev. Joy Willard-Williford who with husband Mark, an MLS patient, attended the 2010 symposium in Bethesda sponsored by the National Institutes of Health.

  • The Advocacy made a two year grant of €15,000 to Dr. Benedikt Bader and the Clinic of the University of Munich, to continue Dr. Bader’s contribution to the study and registering of the clinical manifestations of the neuroacanthocytosis diseases. This will assure Dr. Bader’s invaluable participation in the free diagnostic testing and registry of patients while he completes his qualification in neurology.

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