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.
We are very sad to report the death of NA patient Pamela Korb. Pamela lived with her parents, Heidi and Willi in Erfurt, a city that was reunited with western Germany in 1989. She was an active and enthusiastic person who played field hockey and loved to swim, shop, go for walks, ride her bicycle (later a Rollator-walking frame) and to talk with her many friends. She enjoyed her meals, especially when they ended with a sweet dessert.
In 2006 her developing movement problems led her to visit Munich where she was diagnosed with chorea-acanthocytosis by Adrian Danek MD and later was treated closer to home by Andreas Herrmann MD in Dresden. We first heard from Pamela in 2006 and were happy to introduce her to Louise Dreher, who had been a university friend of NA patient, Peter Ball from Stockton-on-Tees, who lives near Frankfurt. Pamela and Louise developed a good friendship, which extended to their families. Louise said “We will miss her very much. She was vivacious and warmhearted, an intelligent lady of many talents and much courage. Furthermore, she was great at giving constructive feedback to the NA community, so the Advocacy loses a communicative patient too. “
In the last year Pamela slowly lost much of her speech, but she became more friendly with her “speaking computer” and she used email successfully. Pamela had high hopes and enjoyed time with her hockey club friends. The family arranged a holiday near Kiel in a hotel suited for NA patients in July. Alas, Pamela died in her sleep on Pentecost.
Pamela wrote her own tribute in June 2011, “I feel well, our garden makes me happy when I sit there working on my laptop. I often relax listening to music. What is more, I have wonderful breakfasts.” From Pamela came the NA patients’ motto, “I have the disease, but it doesn’t have me.”
To her parents who struggled to provide adequate support from her health insurance provider and to her friends we send the condolences of our whole community.
We are very grateful that in spite of the tragic shock of her unexpected death Pamela’s parents offered to support research by donating post mortem tissue. Sadly, it was not possible to arrange it at short notice on this occasion.
