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
Can you assist a Harvard Medical School researcher with her current investigations into McLeod’s syndrome? Alicia Rivera PhD at Boston Children’s Hospital, Harvard Medical School, is currently conducting the study, The role of XK protein in Erythrocyte ion transport function.
“We are currently recruiting adults with McLeod syndrome who are not taking any medications,” Alicia reports, “If you’re a patient who has been told by your doctor that you have McLeod syndrome, or that you lack the Kx antigen in your red cells, you may qualify for this research study.”
It is important that you are not taking any medication as this could interfere with the studies of red cells, and the study is only approved to recruit adults over the age of 21 years.
This study will test the molecular mechanisms that are important in the development of acanthocytic red cells. If you qualify, participation would involve 2 visits to your doctor to give a medical and family history and to have blood samples taken. There are no medications involved. As part of the study you will be asked to contact close family members to see if they would also like to participate. You will not receive any personal health benefits as a result of your participation in this research study. However, the results will allow us to better comprehend McLeod syndrome and thus benefit patients in the future.
For Physicians of McLeod’s Syndrome patients:
We are seeking patients who have been diagnosed with lack of Kx antigen, McLeod syndrome. No medication for neurological, or other disorders such as benzodiazepines, anticonvulsants, anti-hypertensive or other cardiac medications, and antidepressants.
There are no medications involved. Researchers will isolate DNA from one blood sample, so that they can confirm the lack of Kx antigen. The study will assess cation transport across intact red blood cells and estimate how this critical red cell function is affected by the absence of XK protein.
If you would like to receive additional information about participating in this important Institutional Review Board approved research study, please contact Dr. Alicia Rivera, Principal Investigator, or Dr. Ruth Walker, patient recruiter by email: email@example.com or firstname.lastname@example.org .