Cover Page»
:: 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.


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 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
  • 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

:: 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

:: Previous Issues
NA News Issue 17

NA News Patient Special Issue

NA News Issue 16

NA News Issue 15

NA News Issue 14

NA News Issue 13

NA News Issue 12

NA News Issue 11
:: Join NA News

NA News

Email Address:

Calling McLeod's syndrome patients

Harvard Medical School
Can you assist a Harvard Medical School researcher with her current investigations into McLeod’s syndrome? Alicia Rivera PhD at Boston Children’s Hospital, Harvard Medical School, is currently conducting the study, The role of XK protein in Erythrocyte ion transport function.

“We are currently recruiting adults with McLeod syndrome who are not taking any medications,” Alicia reports, “If you’re a patient who has been told by your doctor that you have McLeod syndrome, or that you lack the Kx antigen in your red cells, you may qualify for this research study.”

It is important that you are not taking any medication as this could interfere with the studies of red cells, and the study is only approved to recruit adults over the age of 21 years.

This study will test the molecular mechanisms that are important in the development of acanthocytic red cells. If you qualify, participation would involve 2 visits to your doctor to give a medical and family history and to have blood samples taken. There are no medications involved. As part of the study you will be asked to contact close family members to see if they would also like to participate. You will not receive any personal health benefits as a result of your participation in this research study. However, the results will allow us to better comprehend McLeod syndrome and thus benefit patients in the future.

For Physicians of McLeod’s Syndrome patients:

We are seeking patients who have been diagnosed with lack of Kx antigen, McLeod syndrome. No medication for neurological, or other disorders such as benzodiazepines, anticonvulsants, anti-hypertensive or other cardiac medications, and antidepressants.

There are no medications involved. Researchers will isolate DNA from one blood sample, so that they can confirm the lack of Kx antigen. The study will assess cation transport across intact red blood cells and estimate how this critical red cell function is affected by the absence of XK protein.

If you would like to receive additional information about participating in this important Institutional Review Board approved research study, please contact Dr. Alicia Rivera, Principal Investigator, or Dr. Ruth Walker, patient recruiter by email: or .

Share | 0 Comments | Post a Comment