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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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Spring concert in North Wales set for last day of April

Gordon Parry was a member of the Flint Male Voice Choir and his Musical Director, John Stone, returns to Wales in May with his new choir-Andante Chamber Choir, to benefit both NA and the Cathedral.

By special invitation, John’s unaccompanied choir travels from Scotland to perform in North Wales at St. Asaph Cathedral at 7.30pm on Saturday 30th April with two sequences:

First, ‘A Heaven Full of Stars’, featuring modern motets from Calman Cooman, James MacMillan, Bob Chilcott, Gabriel Jackson and Stephen Paulus, as well as the haunting ‘STARS’ by Eriks Esenvalds which includes tuned wine glasses!

The second sequence - ‘Shall I compare thee to a red, red rose’ is when the choir explores settings of Shakespeare, in this, his 400th anniversary year, together will three settings of Robbie Burns, including James MacMillan's magical ‘SO DEEP - My Love Is Like A Red Red Rose.’

Andante Chamber Choir was formed in 2007 by John Stone and is a group of singers who decided they wanted to sing the ever widening a-cappella repertoire – choral music without accompaniment - singing everything from plainsong and polyphony to pop. Choir members hail from all corners of Berwickshire as well as further afield in the Scottish Borders and North Northumberland.

The Advocacy thanks the Parrys and John and Lesley Stone and his Choir for donating their time and effort to our cause. For more detail about the 30th April concert and other concerts by Andante Chamber Choir, go here:Andante Chamber Choir website
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