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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.


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

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Next NA meeting set for University of Michigan

The next NA Meeting is to be held on 13-15 May 2016 at the University of Michigan in Ann Arbor, Michigan.

ChAc research is at an important juncture. Interesting recent results on VPS13A structure and function indicate the prospect of considerable progress in understanding ChAc pathogenesis. Members of this gene family are also implicated in other neurodegenerative diseases. Considering the growth in understanding intracellular transport processes, and the increasingly strong links between these processes and neurodegenerative disease, progress in understanding ChAc pathogenesis and the function of VPS13A may cast light on both the pathogenesis of other neurodegenerative disorders and the cell biology of intracellular transport.

Next May's interdisciplinary meeting will set the stage for future research on ChAc. Key aims include:

1: To accelerate progress in understanding ChAc pathogenesis by promoting interdisciplinary collaboration between basic scientists studying intracellular transport, and translational and clinical researchers studying ChAc.
2: To identify critical research goals for the field.
3: To recruit new investigators into ChAc-related research.

To that end, attendees of the meeting-workshop will include a diverse group of participants, including clinical, translational, and basic science researchers.
Invited participants are primarily accomplished investigators, including those working on ChAc directly, on related neurodegenerative diseases, or the basic biology of intracellular transport. The meeting format will consist of a day of formal talks on ChAc, related disorders, and intracellular transport mechanisms followed by a workshop aimed at identifying critical issues for the field.

To expand the pool of ChAc researchers, accomplished basic and translational researchers from outside the field have been invited and will subsidize attendance of a cadre of talented junior investigators, who will be full participants in the meeting.

The small size, workshop format, and interdisciplinary nature of the meeting will maximize participant interactions, and the formal sessions and workshop will be enhanced with social events and a poster session.

The meeting's location in Ann Arbor, Michigan, will also have the advantage of excellent facilities offered by the University of Michigan and capitalize on the presence of strong research communities interested in neurodegeneration and intracellular transport. The meeting venue is completely accessible for individuals with disabilties.

This meeting is being supported financially by the University of Michigan School of Medicine and the Rackham School of Graduate Studies, the Departments of Neurology and Biological Chemistry, philanthropy, and a grant from the Advocacy for Neuroacanthocytosis Patients.


Also invited to this meeting are patients and families. The purpose would be two-fold:

1) To meet others affected by NA, including their family and carers, for support and information

2) To discuss the future of the Advocacy for Neuroacanthocytosis Patients. We are a small, web-based charity registered in the UK and the US, and are looking for volunteers who might be interested in taking over some of the organizational aspects of the group. This could include managing the website, being involved in finances, e.g. administration of grants, requesting proposals for grants, managing marketing and PR, translation services, being a “Patient Advocate” and promoting fundraising events If you have some energy and expertise to contribute to advance awareness, education, and support for people affected by NA, we hope that you would be interested in attending such a meeting. If you cannot attend, but are still interested in helping, we would love to hear from you – this could be done from anywhere in the world.

A separate programme will be organised for this group.

Look out for a report on the Michigan meeting in future issues of NA News.

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