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:: 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.

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Patients: UK & Ireland

David and his Westie Benjy
David and his Westie Benjy
David Nicholson from Essex reports that he received deep brain stimulation surgery last autumn. We were happy to receive from David this photo of himself with his West Highland Terrier Benjy, taken after David's recovery.

Alex Irvine with Pete Clark
Alex Irvine with Pete Clark
In London Alex Irvine has continued her watercolour painting and was recently taken to the Tate Modern Museum by family friend Teiko to see an exhibition by another Japanese artist, Yayoi Kusama which Alex enjoyed very much.

In February Alex and her family three met Ernesto Montero from Spain and Alessio Fagrelli from Italy; both men are helping to care for their siblings who are affected by NA. Alex and Pete Clark met up again for lunch in London after one of Pete's appointments to have botox at the National in Queen Square.

Susan Hills Watercolour
Susan Hills Watercolour
From the UK Susan Hills near Darlington writes she is still walking but with some balance and strength issues uses an electric wheelchair for longer walks; she enjoys the independence of being able to plan and execute her trips herself.Susan completed this watercolour painting as a gift at Christmas. What wonderful detail and shading!

Also receiving deep brain stimulation in 2011 was Sean Mitchell of Essex, who reports that the operation was successful (he has since had the battery replaced). Sean, who was married in November 2010 to Sally, is living in an adapted bungalow in Purfleet near his family. Sean has had his ups and downs and does rehab regularly.
Sean with his wife Sally, son Jay and parents
Sean with his wife Sally, son Jay and parents


Lee Pickford in southeast Englandwas definitively diagnosed with NA as a result of the free Western blot tests funded by the Advocacy. Lee received the diagnosis after sending his blood sample to Dr. Benedikt Bader in Munich. Lee, who is 44, has suffered from epilepsy since his late 20s and attends both epilepsy and Parkinson meetings locally. Lee's mother Sandra, who looks after him, writes to say that Lee meets with a rambling club most weeks, walking and talking with other walkers, and friends take him out for lunch and to garden centres. Lee likes doing Sudoko and adores all sports.
Mervyn and Claire Curry have joined the Rare Disease Northern Ireland Group
Friends take Mervyn fishing


Mervyn
Curry and wife Claire have joined the Northern Ireland Rare Disease Partnership and have been featured in their local paper, which should help to make people aware of NA locally. Mervyn attends the day centre 5 days a week and has recently joined the Erne Disabled Angling Club and fishes with them; he brings the fish home for Claire to clean and cook!

Pete Clark
Pete Clark on the allotment
Pete Clark from Essex has been involved with the Southend Huntington's Disease group for over a year, enjoying working in an allotment. The project was a winner in the Gardening Against the Odds competition and Pete along with other gardeners was featured in an article in the Telegraph last October. Journalist Francine Raymond writes, "Pete says this experience has turned him from a vegetable to someone who grows and eats them", "His wicked sense of humour is appreciated by the rest of the group!" Raymond wrote that Pete loves to work the deep raised beds where he grows parsnips and garlic, "though it can take him hours to plant a single row." For the full story see The Telegraph.

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