Cover Page»
:: 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.
  • Search Google for the latest on NA
  • 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.

  • Patients' Centre
  • Clinic
  • Library
  • Symposia
  • NA News
  • Research
  • Fundraising


:: Previous Issues
NA News Issue 11
:: Join NA News

NA News

Email Address:
Remove

Fundraising

Double your donation to NA on December 7th

There is a great opportunity to double the size of your donation this year.  The Reed Foundation is matching donations up to STG2 million that are made by credit card through the website BigGiveNA from December 7 through December 9, 2009. Please make a note in your diaries to give at that time if possible, and let friends and colleagues know that anything they donate has double value on those days.

NA News Picture
Stephen Patterson, Andrew Morrison and James Gormley raised funds for NA and other charities this summer

Stephen Patterson, Andrew Morrison and James Gormley raised funds for NA and other charities this summer with an epic cycle covering the length of Ireland. The boys’ effort aimed to add to the Advocacy's funds to benefit Stephen’s uncle, Mervyn Curry, and other patients around the world. “We completed the cycle in five days, from the 15th - 22nd July," writes Stephen. “The trip totalled 420 miles and we have raised almost STG4000 for NA and three other charities. We’re all 17 and are in our last year of secondary school in Fermanagh, Northern Ireland.” Thank you so much to Stephen, Andrew and James, and congratulations on such an impressive achievement. (pictured l. to r: Andrew Morrison, James Gormley, Stephen Patterson)


 
NA News Picture
Camille Cook ran a Thanksgiving marathon in Atlanta
Camille Cook
ran a Thanksgiving marathon in Atlanta last November and sent a photo to prove her completion and thank all her supporters. “It’s too early to tell if I will run another marathon, but the experience was mostly an enjoyable one,” Camille reports. “Running on Thanksgiving Day was a great way to work up an appetite, it was wonderful to be able to tick that box on my lifetime achievements, but the most rewarding part was receiving so much support and encouragement for my race and for NA. With your help we raised STG1,800 and perhaps more importantly we raised awareness for a rare disease and those who suffer from it. I finished the race in 3 hours and 55 minutes and I used some of those long hours to think about Alex and other NA patients. I also tried to remember every person who had supported me.  Thanks for believing I could run 26.2 miles...I had my doubts...and more importantly, thank you for supporting the work of NA.”

Our friend Chris Hamilton has done another "April for Alex" walk in Portland, Oregon. She raised almost USD1,000 while keeping fit along the trails near where she lives. Thank you, Chris, for your stamina and your continued support for our cause!

Special thanks to both Peter Clark and Gill and Gordon Parry in the UK for their continuing generous contributions during this year, and thanks to Fiona Fleming for thinking of us so selflessly.

Letter writing and direct requests have produced close to STG5,000 from individuals, in addition to large donations from the Carlbetz Foundation, the Macy Foundation, Lawrence K Altman and Hazel and Chris Stoddart. Thank you all.

Share