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29 Nov 2014 Published by The Advocacy for Neuroacanthocytosis
Patients, Ginger and Glenn Irvine
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.
A warm tribute to Prof. Hans Kretzschmar It is with great sadness that we notify our readers about the death of Prof. Hans Kretzschmar of the Munich Center for Neuropathology and Prion Research, a man who did a tremendous amount for neuroacanthocytosis patients.
Prof. Kretzschmar passed away at the age of just 61 on January 12, 2014 after a short course of a treacherous illness that he had carried with amazing grace.
As the head of the Neuropathology Institute at Ludwig-Maximilians-Universität (LMU) Munich from 2000, he had always supported the work of his former doctoral student Benedikt Bader and of Prof. Adrian Danek in the field of neuroacanthocytosis. Not only were they able to collect and store ten brains of victims of that deadly disease in Kretzschmar's Munich Brain Bank, but Prof. Kretzschmar also helped in other valuable ways. As of 2006 he supplied the technical support of Gertrud Kwiatkowski, who since then has been performing the diagnostic chorein Western blot, also supported by the NA Advocacy, in cooperation with Benedikt Bader.
Hans Kretzschmar, a Munich native born 1953, received training at the University of California in San Francisco under Nobel laureate Stanley B. Prusiner. Prion diseases were Kretzschmar's research focus, continuing his training with Charles Weissmann in Zürich, Switzerland. After assistantship at the Institute of Neuropathology in Munich from 1988 to 1992 he was appointed full professor of neuropathology at Georg-August-Universität Göttingen.
In 2000 he returned to Munich where he took over over the new building of the Center for Neuropathology and Prion Research (pictured below). The similarities between prion diseases and other neurodegenerative diseases developed his increasing interest in the latter. Of particular concern to him were brain tissue banks. With much dedication he directed the German Network Brain-Net as well as BrainNet Europe with its 20 partner institutions (2001-2009).
These biomaterial banks have been the basis of a number of discoveries made in his institute by collaborators such as Manuela Neumann who identified TDP-43 as in important neuronal deposit in the frontotemporal lobar degeneration group of diseases.
Kretzschmar's death means the loss of an outstanding, internationally recognized and prominent figure who was also of great importance for the global neuroacanthocytosis community.
The Advocacy further supports the work of Gertrud Kwiatkowski who performs the chorein Western blots under the Institute's acting director, Prof. Armin Giese. We look forward to continued collaboration with him and his team.
