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
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.
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
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
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
Research projects begun in summer and autumn 2007 have now generated
Institute”: This Munich
project developed the European Huntington’s Disease Network unit specialising
in NA, which went live at the beginning of 2009. Researchers will collect case
studies of NA patients from around the world and these will be available to
qualified medical researchers in a form that protects patient privacy. From the
comparative data they will draw conclusions about the characteristics and
progress of the diseases and be able to single out the most beneficial therapeutic
Free blood testsfor ChAc: To encourage physicians to
contribute to the study, the Advocacy supports these tests, which are done in Munich using the techniques developed in Oxford. This project will continue to be
supervised by Prof Danek and administered by Dr. Benedikt Bader with the
support of a lab technician. The challenges for the coming year are to increase
the number of cases entered in the database. To this end, work must be done to
ease the difficulties that can be legitimately raised by hospital Ethics
Committees which approve the release of patient information; ways must also be
found to encourage doctors to undertake the work of entering patient details into
the database. For a demonstration visit http://www.euro-hd.net/html/na/submodule/
(Login: na-demo password: na-demo!)
Study of the
fundamental characteristics of the red blood cells of patients. Profs. Lucia de Franceschi in Verona, Italy
and Giel Bosman in Nijmegen, the Netherlands
have completed their projects. They
succeeded in identifying differences in the protein composition of the
membranes of red blood cells with and without acanthocytes (spiky red blood cells)
from patients with chorea-acanthocytosis, McLeod syndrome and Huntington’s
disease-like 2. These differences provide the first clues to the molecular
events that lead to the death of neurons. These need much further study. They
are collaborating with Prof Mohandas Narla from New YorkBloodCenter on a detailed
scientific review paper describing this data and the implications.
monoclonal antibody for chorein.
Antonio Velayos Baeza reports from Oxford
that the monoclonal antibodies for chorein (VPS13A) are in the making at a
specialist laboratory. He hopes that
positive results will be announced before the end of the year.
Dr Benedikt Bader
presents at the German Parkinson Congress March 2009
Speaking at the Congress in March, Dr. Bader reported on:
evaluation of the epidemiologic outcome of a Western blot based diagnostic
test for chorea-acanthocytosis between 2005 and June 2008
establishment of a patients’ registry to assess clinical findings, course
of disease and therapies of internationally distributed NA patients.
sent in for diagnostics increased 5-fold from beginning of 2007. Among the
total of 125 blood samples received, in 46 cases a ChAc positive diagnosis
could be assigned. All positive cases
were estimated with more than 80% clinical likeliness to be ChAc.
easy follow up on NA patients, an internet based platform
(http://www.euro-hd.net/html/na/submodule/) was established in cooperation
with the European Huntington’s Disease Network (EHDN) to assess patients’
data by standardized questionnaires.
awareness of NA syndromes and molecular diagnostic possibilities helps to
reduce the time it takes to diagnosis mysterious movement
systematic registration of NA patients is necessary to keep track of
geographically wide spread patients. Due to the overlap of EHDN and NA
registry modules, comparison between the different entities is easily
available. This helps to reveal similarities and differences between
Huntington’s Disease and the NA syndromes and will provide a possible panel of participants in drug trials.