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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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News from EMINA: Fresh application submitted for EU grant

A group of scientists working on chorea-acanthocytosis has again applied to obtain funding under a call for European rare disease research projects (E-Rare JTC 2017).

Abbreviated as “EMINA-3”, a consortium led by Andreas Hermann, Dresden, attempts to continue the successful work of the group of laboratories known as “European Multidisciplinary Initiative on Neuroacanthocytosis.” Now, discovery of agents for causal treatment is the immediate aim, as no curative treatment is available for ChAc.

The initial EMINA consortium under the E-Rare funding cycle of 2009 was led by Adrian Danek and focussed on improved clinical characterization, patient cohort building and biosample gathering (www.erare.eu/financed-projects/emina). It was thoroughly supported by the Advocacy for Neuroacanthocytosis Patients as was the second phase, EMINA-2. This was constituted in 2012 by the current lead applicant. It shifted the research focus on understanding the basic mechanisms in ChAc, including the development of various model systems in laboratory animals and in patient-derived cell cultures (www.erare.eu/financed-projects/emina-2).

For the current application, the consortium's composition had to be rearranged to reflect altered funding conditions and to incorporate newly active laboratories. The EMINA-3 partners come from Germany (Hermann, Wegner), Austria (Mairhofer), Greece (Stournaras), Poland (Zoladek), Italy (De Franceschi) and Japan (Sano) and will be supported in their goals by the established wider circle of labs, the “Friends of EMINA”.

Again, the Advocacy will give input and support, e.g. to obtain and ship biomaterials such as blood or skin cells from patients to laboratories, including brain tissue from those that unfortunately died with ChAc.

EMINA-3 aims to validate EMINA-2 findings by analyzing yeast, fruit-fly, mouse and human cell models. It will evaluate drugs, the potentially neuroprotective properties of which were uncovered through EMINA-2 research or that will be discovered through high-throughput screening. The aim is preparation for possible application of such drugs in patients.

For this, re-vitalization of the patient registry will be of particular importance and the next logical step. Currently, the patient registry (www.euro-hd.net/html/na/registry) is underfunded but in combination with free diagnostic testing (chorein Western blot, performed in Munich: https://www.euro-hd.net/edit/na/network/docs) it will be essential for eventually bringing the findings from basic science to those affected by ChAc.

By the end of April 2017, the EMINA-3 applicants ought to hear about the results of the first level of evaluation and whether they will be allowed to submit a full proposal. If received, research funding is expected to commence by early 2018.

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