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.
Sixth NA Symposium features new clinical, research and patient insights
The sixth international symposium of researchers and clinicians involved in the study of neuroacanthocytosis took place in late October, offering compelling insights and also underscoring the need for patients and clinicians to work together on data collection.
For more photos from Issue 19 of NA News visit our Facebook Page.
The sixth symposium was held in Ede, a town in the centre of The Netherlands. As in 2010 the meeting combined basic scientists and clinicians from both the NA and the Neurodegeneration with Brain Iron Accumulation (NBIA) communities. A further combined NA/NBIA meeting is planned for 2014 in northern Italy.
The first day in Ede featured a report from the work parties of the European Multidisciplinary Initiative on Neuroacanthocytosis (EMINA), sponsored in 2009 by a European Union grant to investigate the clinical aspects of NA. A key presentation was by Prof Francois Tison from Bordeaux, who reported on 15 cases of deep brain stimulation of chorea-acanthocytosis (ChAc) patients. Eleven of the 15 patients who had electrodes implanted into their brains have benefited by a reduction in choreatic movements and improved quality of life. A valuable paper fully covering the results will be published soon.
Prof Adrian Danek and Dr. Benedikt Bader from Munich reported that they had examined the blood samples of 422 patients from around the world whose symptoms suggested ChAc. Of these, 132 showed an absence of VPS13A (chorein), indicating that they did, indeed have ChAc. For a number of those who were not diagnosed with ChAc, samples were sent to Dr. Hans Jung (Zurich) who diagnosed McLeod syndrome.
Prof. Rainer Prohaska and Claudia Roos-Sieg,PhD from Vienna discussed their work on the composition of the red blood membranes in the NA diseases. Dr. Zuhal Yapici in Istanbul contributed samples from 14 Turkish patients. Collecting samples from patients and the unaffected members of their families is vital to this and other studies, and will provide valuable insights into NA. Patients’ families are encouraged to contact Dr. Roos-Siegl (claudia.roos@meduniwien.ac.at) if they can send samples to contribute to this important work.
Dr. Andreas Hermann from Dresden explained his group’s discovery that the absence of VPS13A in red blood cells leads to a series of changes in various cell proteins known as P13K, Rac 1, PAK1, Bad, and cortical actin that appear to promote cell death.
Judith Cluitmans reported on the haematology studies in Nijmegen that included fascinating videos of red blood cells showiing acanthocytes moving through simulated capillaries and through a simulated spleen.
Jan Vonk from the University of Groningen described a different approach to ChAc. He and colleagues manipulated the genes of the fruit fly to create a type of ChAc patient in miniature. These flies suddenly lose their ability to climb and have shortened lives, will be models for initial testing of therapies.
The afternoon of the first day was devoted to plans for the the new EU grant of circa €900,000 that was awarded in early October.Andreas Hermann who led the sucessful application introduced Pablo Blinder,PhD, from Tel Aviv,a new member of the group. Dr. Blinder described the techniques he has developed for cultured neuronal network to determine if the blood flow dyynamics and structure in the brains of ChAc mouse model differ from the unaffected ones.
Important plans to enhance collaboration were made, including regular conference calls that will involve several collaborators who were not eligible to receive the grant.
