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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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PATIENT FOCUS
Pamela Korb
Pamela Korb
Pamela Korb writes this update: "I was diagnosed with NA in 2006. The symptoms are getting worse and I am biting the inside of my mouth again. Problems associated with walking and eating have become more severe, and since early 2011 my speech has been deteriorating rapidly...but 'I suffer from the illness but it does not own me!'

I do miss being able to communicate by telephone. My Lightwriter machine fulfils a very useful role and I am able to use Skype. My balance is poor when walking but I have only fallen over at home and did not hurt myself much. When we go out I use a walking frame or a wheelchair for longer distances.

I had stopped biting my lips and the inside of my mouth – why has this problem returned? For the past 4 weeks I have been biting my lips again, not as badly as before but it hurts. Eating is important so I eat well – tasty food and lots of it - 3 times daily, even when this requires much effort.  Breakfast is semolina; both lunch and supper are cooked meals with ice cream or cake and cream for dessert. My parents are quite envious of all the sweet and calorie-loaded food I consume to keep my weight constant at 58.4kg.

I miss not being able to socialise, go to the Italian restaurant or out for an ice cream. However, there is cake at home, with plenty of whipped cream!"


Kim Sonnet
Kim Sonnet
Kim Sonnet after her Deep Brain Stimulation operation is recovering in Colac, Australia. She can now walk short distances, eat at the table and receive physio and speech therapies. After another check-up to appraise her voltage the family will travel in their newly acquired caravan for a two week holiday. Well done, Kim!

Alex Irvine was again carried around the second half of the wonderful walk through the woods of the Gladstone Estate in North Wales in May. Brilliantly organised by Gill and Gordon Parry, the sponsored walk drew another crowd of over 100 walkers. The final amount raised is not quite reported yet but it will be in the region of £3,500. Thank you, Gill and Gordon!

Gill and Gordon Parry
Gill and Gordon Parry
On 31 July Alex was also treated to a ride down the Thames as cox of a four man boat finishing a four-day 150km voyage from Lechlade to London, to raise money for the Advocacy. James Clarke, Iain Weir, Mark Bavington and Steven Feeney organised their trip in a week and were rewarded with good weather, interesting campsites and marvellous pubs along the way. Our grateful thanks to them for a sterling performance, for inviting Alex on the last leg and for raising close to £3,000 including gift aid.
Alex joins the Four Men in a Boat fundraiser
Alex joins the Four Men in a Boat fundraiser


David Nicholson, a ChAc patient in the UK, was informed in August that his Deep Brain Stimulation operation could go ahead; he had been finding his symptoms deteriorating and his ability to maintain a worthwhile quality of life very difficult. The operation was performed and the subsequent monitoring and adjusting ran very slowly, as for most patients with this operation.

His mother June reported recently that numerous activities are better: his eating and swallowing have improved significantly and his major wish, stopping the dipping motion of his upper body, has changed for the better. His coordination is still difficult, but he is working with both a physiotherapist to improve his balance and a speech therapist to help initiate more speech. There is still opportunity to "tweak the electron box" a little more. David will return to the National Hospital in London for more checkups.

David reports that he is pleased to be able to walk further than before and enjoy meals out in restaurants with friends and family.

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