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.
The first annual review meeting of EMINA 2 has been held in Vienna, launched by a open public meeting in a hotel close to the centre for the World Neurology Congress, when Prof Danek and Prof Klopstock gave clinical overviews of NA and Neurodegeneration with brain iron accumulation. Also at the meeting, Andreas Hermann, the leader of EMINA 2 from Dresden, spoke about the clinical science and translational research of NA while Prof. Ody Sibon, Groningen, discussed the therapeutic potential of animal models for NA and NBIA.
The meeting carried across two days, 27-28 September 2013, with the second day devoted to a closed meeting of the EMINA 2 researchers. They were joined by Profs. Lucia de Franceschi, Verona, Giel Bosman, Nijmegen, and Dr. Florian Wegner, Hannover, who carry out research with Advocacy grants.
Together EMINA 2 and friends discussed their investigations privately, but openly and with a remarkable spirit of collaboration. The future holds the prospect of understanding the complex biology of why specific brain cells die and bring on the neurodegeneration that all of us who face NA and NBIA know so well. There are several early ideas of therapies to be tested on animal models that may make it possible to eventually stop the process of NA.
EMINA 2 – carrying on the work of EMINA
The original EMINA project was the brilliant initiative in 2009 of Prof. Danek who. Supported by Florence Gauzy of the Bavarian Research Alliance, Prof. Danek was successful in bringing concerned medical research professionals from Austria, France, Germany, The Netherlands and Turkey to apply for grants under the E-RARE programme of the European Union. The objective was to pursue research into the acanthocytes that give NA its name, as well as the results of using deep brain stimulation to help NA patients and to support the REGISTRY and the free diagnostic service for ChAc.
The EMINA work has yielded two published papers on the effect of deep brain stimulation and deeper knowledge of red blood cells. The three year grant came to an end in 2012. EMINA 2 came about when the team came together again in 2012 to apply successfully for a grant that involved the younger investigators in Dresden, Groningen, Nijmegen, Tel Aviv and Vienna who took the leadership positions.
Sincere thanks to NA researchers
We are grateful for the dedication of these researchers both young and older. The support of our generous donors has been responsible for this research getting on to the runway. Now that it has taken off, we hope to play a role in starting others and continuing support who do not have access to Government funding.
