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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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Free diagnostic service delivers 120 confirmed diagnoses of ChAc

Benedikt Bader
Benedikt Bader
Patients with NA diseases are few in number and widely spread around the world. Only a few neurologists will see even one case in a long career. It is virtually impossible for the individual neurologist to learn from the experience of treating a number of patients.

Early on, Benedikt Bader's team realized that no progress could be made helping patient treatment unless we were able to bring many patients together. To overcome the problem the Advocacy  took advantage of the diagnostic tools discovered by the Wellcome Centre for Human Genetics, Oxford University and provide the funding for Prof. Danek and Dr. Bader to offer a free diagnostic service that would help both patients and their physicians to diagnose these rare diseases and to create a Registry in which consistent records of anonymous, diagnosed patients whose histories can be studied and who may eventually be a source of members of drug trials. The NA Registry is hosted by the European Huntington’s Disease Network.

Dr. Bader has just released the profile that shows how successful and beneficial this has been. In three years doctors have submitted 397 blood samples for diagnosis; the results are 120 positive diagnoses of chorea-acanthocytosis (ChAc).  ChAc patients came from 24 different countries (Australia 7, Brazil 2, Chile 2, Germany 17, France 3, Greece 2, UK 14, India 3, Iran 5, Ireland 3, Italy 5, Canada 2, Korea 1, La Reunion 2, Norway 1, Austria 1, Poland 2, Portugal 2, Switzerland 2, Spain 8, Thailand 1, Turkey 9, USA 25).

Of the 265 cases that clearly did not have ChAc follow up with other specialists identified  4 cases of McLeod syndrome (MLS), 1 case of Lubag, 2 of MPAN, 8 of PKAN, 6 others with neurodegeneration with brain iron accumulation ( NBIA). 12 cases are still in progress.

Doctors urged to add patient data to the Registry

The diagnostic service has helped many patients, their families and doctors to put a name to their condition. We are now working on adding more patients’ data to the Registry that then will provide a basis for close study of the condition and what works.

We would ask patients to encourage their doctors to add patient information to the database. Physicians can access the NA Registry here.

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