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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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Latin America update: Centre of Excellence update and Advocate's visit
Following last issue's announcement of a new Centre of Excellence for NA Syndromes in Brazil, Adrian Danek, Benedikt Bader and Gertrud Kwiatkowski from Ludwig Maximilians University, Munich spent a week in Brazil in October 2009, meeting with leading neurologists at the University of Sao Paulo.
From left to right: Dr. Benedikt Bader, Prof. Adrian Danek, Dr. Guilherme Riccioppo

At the Ribeirao Preto campus they met with Professors Vitor Tumas, Lewis Greene and Dr. Guilherme Riccioppo to plan collaboration in research into neuroacanthocytosis. Patient data from chorea-acanthocytosis diagnostic tests planned for Lewis Greene's laboratory will be available to EMINA project researchers in an anonymous form.

During the visit Adrian Danek and Benedikt Bader also lectured to the Neurological Clinic staff on the research into the neuroacanthocytosis syndromes. Dr. Renata Leite responded with an introduction to the methods of the GeroLabs and the Sao Paulo Brain Bank. GeroLab has a unique brain tissue collection and exchange of samples with the Center for Neuropathology and Prion Research in Munich may enrich the quality of research into neurodegeneration in general.

They also met Dr. Eduardo Alho who will soon join a team in Würzburg, Germany, to develop an atlas of the basal ganglia, the section of the brain that is affected by neuroacanthocytosis as well as Huntington’s and Parkinson’s disease.




Do you know Spanish-speaking NA patients?

Fiona Fleming, recently announced as the NA Advocacy's Patients' Advocate for Spanish speakers, has made new contacts in Argentina following a trip to visit family in the region early this year. During her visit she was happy to speak with Carlos, father of NA patient Alejandra in La Plata, on the East Coast of Argentina. "It was lovely to hear his voice," Fiona says. "Somehow that contact made the NA support group seem so much closer and more valuable."

Fiona's son, who is a doctor in Mendoza, also arranged contact with Dra LLera at the Geiser Foundation for Rare Diseases at the Hospital Notti. It is hoped that Dra Llera will become part of the NA reference network in the future.

The NA Advocacy now has Spanish-speaking contacts in Puerto Rico, Argentina and Spain. If you or someone you know could benefit from Fiona's help, please don't hesitate to send her an email at fionmend@hotmail.com

The Advocacy's patient advocates for French (Anne Depaulis, annedepaulis@bluewin.ch) and German (Louise Dreher, HeDreher@aol.com) speaking patients are also available to offer assistance.

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