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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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New collaboration follows NA talk at Ohio State University

A new collaboration to look at data about NA dating to the 1960s is to be undertaken following a talk earlier this year at Ohio State University by Adrian Danek.

One of the earliest descriptions of what is now called neuroacanthocytosis was the subject of discussion after a guest lecture Adrian Danek gave at the university in Columbus, Ohio in March 2017. Adrian spoke about "Neuroacanthocytosis, an overview (McLeod syndrome and chorea-acanthocytosis)" during Neurology Grand Rounds, on the invitation of Prof. Douglas Scharre.

The continued possibility of chorein Western blot testing, as recently funded for another year through a donation from the Advocacy, received much interest. This inexpensive possibility to explore differential diagnoses in conditions of uncommon neurological presentations are of great help and may shorten the time to diagnosis in countries where DNA testing cannot be performed.

The connection of the two professors of cognitive neurology, Adrian Danek from LMU Munich and Douglas Scharre from OSU, had come about as Prof. Scharre apparently was the last academic neurologist in touch with members of this early neuroacanthocytosis family. It had originally been described in the 1960s by Irving M. Levine from the Boston Veterans Administration hospital, augmented by results from a 1966/67 study of family members at the National Institutes of Health in Bethesda, Maryland.

Now, Scharre and Danek have started a collaboration to follow up the data and publish a summary of all findings in Levine's family in the light of recent genetic knowledge about the neuroacanthocytosis syndromes. It is unknown if affected family members are still alive, but they would be most welcome to get in touch with either of the two neurologists.

Please contact Adrian Danek or Professor Scharre directly or contact the Advocacy and we'll put you in touch.

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