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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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  • NA News
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Can you point the way to new seed funding?
The NA Advocacy has launched a new search for seed funding to support two extremely promising research proposals. Any readers who may have contacts in private foundations or charitable trusts are encouraged to contact the Advocacy so that we may help kick-start the projects below. Both have been peer reviewed by the Advocacy’s independent Scientific Panel and recommended as viable and valuable initiatives:
  • Purification and Biochemical function of Yeast Vps13 Protein Robert Fuller, Professor at the University of Michigan, proposes a study to find the function of the protein that is missing in ChAc patients. His strong belief is that the approach of isolating and reconstituting individual movement of chemicals within cells (vesicular transport steps) is the way that we will begin to understand the trafficking pathways in mechanistic detail. He believes that by illuminating the fundamental mechanism in yeast by which this missing protein functions in transport between the trans-Golgi network and the late endosome, light will be shed on the pathway that VPS13A engages in human neurons. This pathway is vitally important for the survival of the neuron. Funds required: USD$40,000.
  • Invitro Modelling of ChAc: Patient Fibroblasts and their Reprogrammed Derivatives as Human Models of ChAc Alexander Storch, Professor at the Dresden University of Technology, proposes to model NA-diseased neurons from skin cells of patients. Using these he can observe the processes that lead to the death of brain cells and experiment with ways of slowing or stopping cell-death. Prof. Storch has already tested this approach but requires support to continue the work for one year. The additional months of inquiry should bring the results to the point that, as we saw with the EMINA project, a major funder such as the European Union or the German Research Foundation will offer support. Funds required: €50,000

Researchers and supporters have recognized that the rare NA group diseases are worthy of serious study, as any mechanisms which help to control or cure the diseases will not only alleviate the suffering of NA patients, but may also illuminate key mechanisms of more common neurodegenerative diseases, which together represent a huge burden across society.

Any introductions you can provide for the Advocacy would be most welcome. Please contact glenn@naadvocacy.org

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