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
Gardeners unite for NA: London Marathon and "Rare Plants for Rare Disease Research" London Marathon fundraiser goes the distance for NA
David Lewis, head gardener at the Virgin Roof Gardens Kensington will be running in this year's London Marathon on 22 April to raise funds for NA.
David is a former advertising executive settled in his garden designer role for a roof garden six stories up and 70 years old. He has a wide variety of activities to encourage others to participate in sustainable gardening.
School children from the borough are given hands-on demonstrations of bulb planting and advice about planting for their school gardens. There is also a garden club with speakers and sharing of gardening experiences. We wish him well on April 22! Please consider making a donation to support David's big run for NA. To make a donation online click here: David Lewis London Marathon Fundraiser for NA
UK plant nurseries are joining together with the gardening blog Stopwatch Gardener in a special NA fundraiser
Rare Plants for Rare Disease Research fundraiser in Edinburgh
UK plant nurseries are joining together with the gardening blog Stopwatch Gardener (www.stopwatchgardener.com) near Edinburgh in a special NA fundraiser, "Rare Plants for Rare Disease Research." The event, to be held May 6th between 10am and 1pm in East Lothian outside Edinburgh, is organised by blogger Sheila Averbuch and supported by Beth Chatto Gardens, Otter Farm, Crug Farm Nursery and Birchwood Plants of Mottisfont in Hampshire. All nurseries are donating rare or unusual plants for the sale, which will also feature familiar garden plants, teas and cakes for sale.
Sheila, whose content services company ENNclick publishes each issue of NA News, said she was keen to draw attention to the fact that rare diseases like NA should be supported by long-term government-backed research funding. "Rare diseases like NA urgently need sustained sources of financial support, but until that happens, it's fundraisers like this plant sale which can make all the difference to raising awareness and funds," Sheila said. "One of my big messages is, rare disease research should not be supported by plant sales, but by sustained and long-term funding."