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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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Research Update

Research projects begun in summer and autumn 2007 have now generated many results:

 

Virtual Research Institute”: This Munich project developed the European Huntington’s Disease Network unit specialising in NA, which went live at the beginning of 2009. Researchers will collect case studies of NA patients from around the world and these will be available to qualified medical researchers in a form that protects patient privacy. From the comparative data they will draw conclusions about the characteristics and progress of the diseases and be able to single out the most beneficial therapeutic strategies.

 

Free blood tests for ChAc: To encourage physicians to contribute to the study, the Advocacy supports these tests, which are done in Munich using the techniques developed in Oxford. This project will continue to be supervised by Prof Danek and administered by Dr. Benedikt Bader with the support of a lab technician. The challenges for the coming year are to increase the number of cases entered in the database. To this end, work must be done to ease the difficulties that can be legitimately raised by hospital Ethics Committees which approve the release of patient information; ways must also be found to encourage doctors to undertake the work of entering patient details into the database. For a demonstration visit http://www.euro-hd.net/html/na/submodule/ (Login: na-demo password: na-demo!)

 

Study of the fundamental characteristics of the red blood cells of patients.  Profs. Lucia de Franceschi in Verona, Italy and Giel Bosman in Nijmegen, the Netherlands have completed their projects.  They succeeded in identifying differences in the protein composition of the membranes of red blood cells with and without acanthocytes (spiky red blood cells) from patients with chorea-acanthocytosis, McLeod syndrome and Huntington’s disease-like 2. These differences provide the first clues to the molecular events that lead to the death of neurons. These need much further study. They are collaborating with Prof Mohandas Narla from New York Blood Center on a detailed scientific review paper describing this data and the implications.

 

Development of monoclonal antibody for chorein.  Antonio Velayos Baeza reports from Oxford that the monoclonal antibodies for chorein (VPS13A) are in the making at a specialist laboratory.  He hopes that positive results will be announced before the end of the year. 

 

Dr Benedikt Bader presents at the German Parkinson Congress March 2009

 

Speaking at the Congress in March, Dr. Bader reported on:

  1. The evaluation of the epidemiologic outcome of a Western blot based diagnostic test for chorea-acanthocytosis between 2005 and June 2008
  2. The establishment of a patients’ registry to assess clinical findings, course of disease and therapies of internationally distributed NA patients.

 

Results:

  1. Samples sent in for diagnostics increased 5-fold from beginning of 2007. Among the total of 125 blood samples received, in 46 cases a ChAc positive diagnosis could be assigned. All positive cases were estimated with more than 80% clinical likeliness to be ChAc.
  2. For easy follow up on NA patients, an internet based platform (http://www.euro-hd.net/html/na/submodule/) was established in cooperation with the European Huntington’s Disease Network (EHDN) to assess patients’ data by standardized questionnaires.

 

Conclusions:

  1. Increased awareness of NA syndromes and molecular diagnostic possibilities helps to reduce the time it takes to diagnosis mysterious movement disorders.
  2. A systematic registration of NA patients is necessary to keep track of geographically wide spread patients. Due to the overlap of EHDN and NA registry modules, comparison between the different entities is easily available. This helps to reveal similarities and differences between Huntington’s Disease and the NA syndromes and will provide a possible panel of participants in drug trials. 
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