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
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.
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
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.
Visit the NA page on WeMove,
the Movement Disorder Societies charitable and educational
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
Support the BigGive, a vital source of research funds for NA
Can you support the BigGive for NA research? This year the on-line campaign is from December 6-19th, and each year the Big Give plays a major role in helping fund the research activities we undertake at the Advocacy, including the grant awards you see announced in NA News. If you are able to donate on-line, look for details in the next NA News, or if you would rather send a cheque/check, please contact Glenn Irvine to become a pledger.
Did you know? All of the Advocacy’s other activities, from our newsletter to our accounting services to maintaining the website, are conducted using the freely donated skills and time of our supporters. But research is not free. We rely heavily on universities in Europe, Japan and the United States to seek for a cure in the arcane features of the NA diseases. Haematologists in Italy and The Netherlands as well as cell biologists in England, Germany and in the USA have to hire scientists and technicians and to provide consumables if work is to expand.
Finally, another word of thanks to those who continue to donate their services for free to help this important work. NA News is the contribution of Sheila and Ralph Averbuch, and Ginger and Glenn Irvine are volunteers. Adrian Danek, Ruth Walker, Hans Jung and other medical professionals generously volunteer their important efforts. Accounting and financial review have been generously given by Amin Somji and Glyn MacAulay.
Dietrich Nanton created the first website as a personal contribution. In the new website, the Patients section that will be translated into five European languages is the gift of the Paris-based rare disease organisation, EURODIS. Gill and Gordon Parry as well as many others are voluntarily an endless source of fundraising and gardeners, runners, walkers and rowers freely give both their energy and their marketing prowess to help.