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.
Research has progressed in important ways. Beginning in 2003 the Advocacy commissioned the first investigation into acanthocytes, those spiky red blood cells that are a defining characteristic of NA. With the help of Advocacy donors, foundations and European Union members this work was carried further in the EMINA project. In the prestigious journal, Blood, Lucia de Franceschi and Giel Bosman, reported the discovery that presence of an enzyme, Lyn, is higher in the red blood cell membranes of ChAc patients. Lyn interacts with TYR that in the brain is converted to dopamine. Dopamine is the chemical that regulates the movements and its replacement is an important therapy for Parkinson’s disease patients.
Alexander Storch
Alexander Storch
In 2009 the Advocacy made a grant to Alexander Storch at the Technical University of Dresden to develop brain cells from skin tissue of NA patients. The first results of his work, in association with Florian Lang, were published in journal of the American Federation of Experimental Biology in December. They reported that "silencing" chorein (the protein that is missing in ChAc patients) in cells promoted the process of cell death. Death of cells in the caudate nucleus and beyond seems to be the principle reason for the symptoms of ChAc.
**
European Multidisciplinary Initiative into Neuroacanthocytosis
The three year grant under the auspices of the European Union’s E-RARE program received in 2009 will come to an end in October 2012. So in December 2011 young investigators at many of the same laboratories that participated in the EMINA project collaborated in grant applications aimed at uncovering the causes of neuroacanthocytosis and the related neurodegeneration with brain iron accumulation. The EMINA-2 applicants work in the basic science of NA and NBIA in university laboratories in Dresden, Tel-Aviv, Groningen, Nijmegen and Vienna.
