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.
Save the date: the Big Give makes a big difference to NA on 5 December The Big Give plays an important part in our search to understand and treat NA, and this year we're asking all our supporters to make an extra effort to save the date: logon to the NA page on the Big Give website at 10 AM GMT any day between 5 December and 18 December, and you can seize a rare chance to double your donation. The NA Advocacy will make its largest ever call for new research projects proposals in 2014, and the Big Give is vital to our success.
On-line donations made at 10AM GMT between the 5th and 18th December are matched by major supporters of the Advocacy as well as by Candis, the British weekly magazine, and the Reed Foundation. The goal for pledges to be matched is £10,000, so timing is important. Closer to the date, we will be in touch again with a quick reminder about when and where to logon if you plan to make a donation this year.
This year’s campaign is especially important because we plan to send a call for new research project proposals to academic scientists around the world. Some of these will be detailed plans to pursue new ideas. Others will detail plans to develop further already established investigations by members of our circle who have worked to discover how and why red blood cells of patients become deformed and what significance this has for the illnesses that affect brain cells. Still others are learning the function of the missing genes in chorea-acanthocytosis (VPS 13A) and mutations in XK (McLeod syndrome) with the hope that therapies can be found to restore or replace the missing function. Others have succeeded in reproducing the brain cells from ChAc patients and with colleagues are exploring how these affected cells differ from healthy cells. When we know the factors that are causing cells to self-destruct, we are on the search for medication to stop or over-ride the decline.
Each such study costs $42,000 (€32,000/£27,000) annually to cover part of the researchers salary and/or laboratory supplies. Most of the research in NA was started with Advocacy grants that attracted early interest of newcomers to the field. European (including Israel and Turkey) laboratories have gone on to win grants sponsored by E-RARE, a European Union programme that has supported researchers with a total of €768,000.
All research proposals are scrutinized by an independent panel of scientists who rank the quality of the proposals and potential value in the marathon to find therapies and cures for the NA diseases.
