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.
Fundraising Update Donations to Big Give raise more than £27,000 for NA
Our thanks to 93 generous donors who responded to our appeal at the end of 2011 with donations totalling £27,748 ($44,058 €33,629). This included the on-line donations that were matched though the Big Give on-line campaign. The Big Give had technical problems during this campaign and we are especial grateful to those who persevered (especially to our California friends who were up in the middle of the night to get in on the matching).
Ruth Walker
Dr. Ruth Walker donates book royalties to NA
Our grateful thanks go to Dr Ruth Walker who has donated the royalties on her book Differential Diagnosis of Chorea to NA. The book which she compiled and edited was published by Oxford University Press Inc ISBN 978-0-19-539351-4 in 2011 and is an important contribution to the diagnosis and management of 33 diseases including the neuroacanthocytosis diseases that normally show the irregular and uncontrollable movements called “chorea”. The book that contains chapters written by international experts is an invaluable resource for neurologists called to diagnosis these rare and unusual conditions.
Hawarden Fundraiser in Wales set for 12 May
The walk for NA in Hawarden, North Wales will take place again this May, on Saturday the 12th.
Last year over 120 walkers raised just over £3500 for our cause; thank you to all the walkers and to Gordon and Gill Parry who organise the event. Alex Irvine was once again carried over the last leg by local stalwarts in her adapted sedan chair!
James Clarke
Four Men in a Boat reprise
The force behind the 4 men in a boat event that took place last August, James Clarke, who has a degree in music from Durham University, has promised he will be organising another rowing event this summer -- where, when and who are to be announced soon.
James is a former world champion in the coxless fours based at the London Rowing Club in Putney.
Sponsored series of events for NA from Free Schools London Division
Our thanks to Françoise Ryder for a new series of fundraising events to support NA research. Françoise attended the Lycée Français Charles de Gaulle in London with Jennifer Irvine Nanton, sister of NA patient Alex Irvine. At her office in the Ministry of Education their group called Free Schools London Division has chosen to support NA patients with a series of sponsored events until December 31 2013.
A cake sale, which was the first event, raised £72.00 with more small fundraising events to follow. To donate via their website click on: https://mydonate.bt.com/fundraisers/fsglondon1 The site is in the name of Vicki Stewart, Francoise's colleague.
Hadrian's Wall
Hadrian's Wall fundraiser
Fergus Cummings, graduate of the London School of Economics and working in economic analysis at the Bank of England, intends to join a fundraising trek along Hadrian's Wall, the Roman wall that separated England from the northern tribes. Fergus is an avid international traveller who has recently visited the eastern Mediterranean and Argentina. The trek is set for 23-24 June 2012, and the north of England should present different challenges.
