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.
Ten ways you can act now to bring a cure for NA closer
Fundraisers like Katie's marathon have raised almost a third of the funds we need to develop an in vivo model of NA
Patients who suffer from NA diseases come from all walks of life and all corners of the globe, but all have one thing in common: that feeling of helplessness when first diagnosed with neuroacanthocytosis. So many things about NA are overwhelming: there are so few cases; so little is known about how the genetic mutations bring on such severe physical problems; there are no coordinated conclusions about the effectiveness of drugs or deep brain stimulation.
So what can you do if you are diagnosed? There's a great deal, and you can start today. Here are the top 10 ways you can fight back against the disease that we are all committed to beating:
Confirm the diagnosis: get confirmation by sending blood samples for the Western blot test for chorea-acanthocytosis. It's completely free, supported by the Advocacy and Ludwig-Maximilians University in Munich. Click here for full details about the Western blot test
Alex and James begin the journey.
Ask your doctor to register your case: as well as keeping your own patient's diary, you can collaborate with your physician by asking him or her to register your case and the details of changes in your condition in the NA REGISTRY. Doctors will record the patient’s history and report on the results of an examination according to a consistent protocol; this may take an hour or longer if the doctor is able to arrange to take a video recording of their patients. Don't be shy about asking your doctor to help; they probably feel as helpless as you do in the face of the diagnosis of NA and will be keen for a practical way to help.
Support Vienna researchers with blood samples: Patients and physicians can collaborate right now with researchers who are investigating the causes of NA. The researchers need blood samples for their work at the Medical University of Vienna. Contact Claudia Roos PhD or read more in this description of the Vienna research.
Keep a patient's diary: record how your condition changes, and share it with Benedikt Bader MD who is compiling a comprehensive collection of case records, which is invaluable to researchers. Contact Dr. Bader by email
Share therapies that work for you: whether you write to us here at NA News or share your experiences online, we want to hear from you if there are techniques, assistive technologies, or other advice you can offer to other patients dealing with common problems like communication, eating and exercise.
Raise money with a sponsored walk or run: the Advocacy for Neuroacanthocytosis Patients is working tirelessly to raise enough funds to develop an in vivo model of ChAc, and fundraisers organised by families and individuals have made a huge contribution to this fund. Sponsored walks and marathons are a favourite, and collecting support donations is easily done online.
Raise funds with a sponsored golf tournament: this is another great idea, which we first saw from the Parry family. In fact the Parrys have also organised fundraising by selling books and home-made greeting cards, as well as organising a bridge tournament. There really are no limits to what is possible! For fundraising ideas or information email Glenn Irvine.
Alex and her four men (read Fundraising Update in this issue for more info.)
Leave your brain tissue to science: donation of brain tissue is a very precious, very special way in which NA patients can help the cause of research after their death. Invaluable information about the effects of NA on the brain can only be found by a post mortem examination. Many patients have already consented to donation: read here to see some helpful insights into how one mother decided to approach the question of brain tissue donation with her daughter.
Keep yourself and your doctor informed: We are a small community. That makes all patients and their families as well as their doctors the keys to progress. Encourage your doctor to sign up for NA News, and to stay as informed as possible about developments in research into the basal ganglia, the area of the brain affected by NA. The more people talk and know about NA, the greater our chances of ultimately defeating it.
