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29 Nov 2014 Published by The Advocacy for Neuroacanthocytosis
Patients, Ginger and Glenn Irvine
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.
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.
Double your donations on 4 December with the Big Give
The Big Give is here again…
LOG ON TO THE BIG GIVE WEBSITE AT 10AM GMT ON 4th, 5th OR 6th OF DECEMBER. THIS LINK WILL BE READY TO RECEIVE YOUR DONATION AT THAT TIME
You may know that 4 December is our once-a-year-chance to double the value of any contribution you make to help fund NA research and our patient support work. Patients like our own daughter Alexandra lead lives that have been severely affected by neuroacanthocytosis, but our work is helping her and so many other patients with NA group diseases, including McLeod’s syndrome and Huntington’s-like 2.
The research we fund is currently pursuing two, extremely promising lines of inquiry (see Ruth Walker's article, Stresa Symposium reveals significant insights for NA research, in this issue) and your gift, of any size, will make a vital contribution.
Just fill in the simple form with credit card details, and your donation will be doubled, even though contributions do not show up immediately on the Big Give website.
We have excellent news this year: an extra special matching fund of £5,000 ($8,000) means that regardless of whether you are able to make a donation through the Big Give website, we will be able to match the first £5,000 ($8,000) in donations, even those you make directly to the NA Fund.
If you can give online at the Big Give, that's wonderful! If you would prefer to donate direct, please use the following details:
For dollar donations of over $500 It is best to send these to us at 32 Launceston Place, London W8 5RN, England as a check payable to “Anglo-American Charitable Foundation”.
For dollar donations less than $500 These dollar donations can be sent to 32 Launceston Place, London W8 5RN, England as a check payable to “NAFund”.
For any donations in Euros Please send these directly to our German colleagues. Donations should be made to our chief NA researcher in Hannover:
