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.
Symposium Report: Days two and three at Ede The second and third days were a joint meeting with colleagues from the NBIA community. Dr. Ruth Walker introduced the clinical aspects of NA and Dr. Susan Hayflick gave an overview of the NBIA diseases to provide a context for the researchers who have recently started work in these fields.
Alex Irvine, Froukje Vlestra and Arend Eedema. For more photos from Issue 19 of NA News visit our Facebook Page.
The meeting continued with reports from the EMINA researchers as well as reports from Advocacy-supported researchers:
Dr. Lucia de Franceschi discussed the further developments to her two published results that found that the absence of VPS13A affected the development of red blood cells.
Aaron Neiman PhD, from Stony Brook University, New York, who was recently funded by the Advocacy, described his experience studying VPS13 in yeast which we hope will lead to an understanding of its function in humans.
We also heard a wide range of talks on NBIA, a group of usually young-onset diseases that in some cases display the spiky red blood cells that are a characteristic of NA. Topics included some very recent genetic discoveries, and insights into the pathology of these disorders.
Additionally, for the first time at a NA Symposium, the perspective of a patient's day to day life was presented in Ede. Alex and Ginger Irvine combined a slide show with comments by Alex on her LightWriter. They covered the topics dressing and eating, speaking and drinking, exercise and games, friends visiting and fundraising events. To introduce their talk Alex pushed Ginger in the wheelchair to the podium!
Finally, in his meeting summary, Dr. Adrian Danek stressed the goal of “trial readiness”. This important principle describes the availability of information summarising an individual patient´s findings so that, once promising treatments become available, no time is lost in informing patients, and figuring out who is eligible to participate in clinical trials. Trial readiness in ChAc can only be achieved if patients and clinicians work together on data collection and data completion in the NA registry.
