NA News Issue 12 ::
14 Oct 2009 Published by The Advocacy for Neuroacanthocytosis
Patients, Ginger and Glenn Irvine
:: How to recognise Neurocanthocytosis
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.
Welcome to NA News, dedicated to
updating researchers, patients and sponsors with the latest
news about neuroacanthocytosis (NA) related diseases, a rare group of diseases
affecting the brain. NA News is part of our coordinated effort for better
information and scientific exchange about these conditions, which, while rare,
bear similarities to and can shed light on common neurodegenerative disorders
such as Alzheimer's, Huntington's and Parkinson's diseases, and neurodegeneration with brain iron accumulation (NBIA). In this issue we announce new sponsorship from the US National Institutes of Health, an exciting collaboration between German and Brazilian researchers, and the latest news on patients, research and the Advocacy's funding
and fundraising work.
Thank you for reading!
National Institutes of Health to sponsor joint Symposium
The Advocacy has just received news that the National Institute of Neurological Disorders and Stroke, a group within the US National
Institutes of Health, is to be a sponsor of a joint International
Symposium in 2010. Titled “Brain, Blood and Iron: Advances in the Cell Biology of Neurodegeneration,” the 2010 symposium in the US will bring together our diverse community of researchers, clinicians and patients. Read more»
NA Centre of Excellence marks a major new collaboration
International research collaboration on the NA group of diseases took
an exciting step forward this summer with the announcement that a new
Centre of Excellence for Neuroacanthocytosis Syndromes is to be
established in Brazil. Read more»
New round of Advocacy funded research to commence
This month the Advocacy finalizes its latest research awards
to researchers seeking grants to study NA.
Read more»
NA Advocacy reaches out to Spanish speaking patients
We are pleased to announce the addition of a new Patients' Advocate for Spanish speakers. Fiona Fleming lived in Mendoza, Argentina for 20 years and presently offers both counseling and pilates to people in Kelso and the Borders, Scotland. The Advocacy is also delighted to offer patient advocates for French (Anne Depaulis) and German (Louise Dreher) speaking patients. Read more»
Speech expert offers insights on NA patient challenges
As a Speech and Language Therapist working with NA patients Debbie Bloch works to help patients and their families understand more about the communication
and swallowing difficulties common to these diseases, and how they might better
manage their condition.
Read more»
You can help find the cause of NA
Patients and their families responded generously to the request in the
last issue of NA News to support the essential research into
neuroacanthocytosis with tissue donation. We are very grateful. Read more»
Patient Focus
Hear the latest news and coping tactics from NA patients around the world. Ana Maria Palomo Argenta… Pamela Korb… Marika in California… Susan Hills… Alex Irvine… Pete Clark... Read more»
Research Update
Research projects begun in summer and autumn
2007 have now generated many results from Munich, Verona, Nijmegen, New
York and Oxford. Plus: Dr. Benedikt Bader presents to the German Parkinson
Congress, March 2009. Read more»
Fundraising
There is a great opportunity to double the size of your donation this
year and find out about the fundraising efforts of supporters around the world. Read more»
