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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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NA research call broadens to wider basal ganglia community
The basal ganglia are the region in the brain where degeneration first appears in NA patients.

Published on 31 October, the call was sent directly to 283 scientists around the world. It outlines the objectives of the research effort and invites applications for funds to be available in 2012.

What is Neuroacanthocytosis?

NA diseases are monogenic movement disorders associated with degeneration that begins in the basal ganglia. NA strikes generally in the third or fourth decade with phenotypes resembling Huntington’s and Parkinson’s diseases. The NA diseases are characterised by acanthocytic red blood cell membranes. We hypothesise that acanthocytosis relates to a malfunction in the membrane that in neurons may hamper normal autophagy and lead to cell death.

The Advocacy For Neuroacanthocytosis Patients, a London-based registered charity which currently funds research by investigators in four countries, seeks proposals from academic researchers for investigations into the etiology of basal ganglia degeneration in neuroacanthocytosis (NA).

Goals of Research funded by the NA Advocacy

The Advocacy’s medium-term goal is to identify the pathway to neurodegeneration in the NA diseases and eventually to find therapies to delay or prevent the development of neuroacanthocytosis.

We are especially interested in:

  • The function of the protein chorein (encoded by the gene VPS13A) that is missing in chorea-acanthocytosis (ChAc), the most common of the NA diseases.
  • Shape, folding, and abnormal folding of chorein, and the McLeod protein XK
  • Genome-wide association search for other mutations in NA patients
  • Relationship of acanthocytosis to cell malfunction and death
  • Development of animal or cell models
  • Work on the established registry of neuroacanthocytosis patients
  • Study of natural history of NA diseases in comparison to Huntington’s and Parkinson’s diseases
  • Protein interactions in NA diseases


Scope of investigation

Applications from Principal Investigators not currently pursuing NA research are welcome if their specific expertise, together with proof of project feasibility and relevance, can provide novel approaches to the identification of disease mechanisms and therapeutic targets for NA.


Collaboration

The Advocacy’s aim and expectation is to promote close collaboration between all researchers in the field of neuroacanthocytosis, including the investigators supported by the nine previous grants, as well as with the European Multidisciplinary Initiative on Neuroacanthocytosis (EMINA) (www.emina.med.uni-muenchen.de).

If results from Advocacy funded research are not accepted for publication within 6 months after the conclusion, it is expected that results, whether positive or negative, will be published in “PLoS Currents: Huntington Disease” (http://currents.plos.org/hd).

Since 2007 we have awarded nine grants for basic research projects and one for clinical research. Progress reports of these projects are at www.naadvocacy.org under NANews.

Review procedure

All proposals will be assessed by an independent review panel that will call on scientists with expertise in the field of proposal. The panel will consider: significance, technical merit, quality of the applicants´ previous work, relevance of research goals.

Apply for NA funding before 15 January 2012

Our research objectives and our values, as well as the application process and an application form are at http://www.naadvocacy.org/ under RESEARCH GRANTS. This can also be found at http://www.chacdev.pwp.blueyonder.co.uk/chacDev/researchGrants.asp

Grants will be subject to the conditions for grants of the Wellcome Trust that may be found at: http://www.wellcome.ac.uk/Funding/Biomedical-science/Application-information/WTD004055.htm

Grant Proposals may be submitted at any time before 15 January 2012.

In the past our grants were of the order of €35,000 (US$ 38,000) per annum. The families and friends of a small community of patients fund the research of the Advocacy

For more information, please contact glenn@naadvocacy.org or tel +44 20 7937 2938

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