NA News

:: How to recognise Neuroacanthocytosis

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 20s, 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

The Differential Diagnosis of Chorea edited by Ruth H. Walker and published in 2011. This book provides the most comprehensive source of information on the uncontrollable choreatic movements associated with NA and a number of other diseases. ISBN 978-0-19-539351-4
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
WeMove.org is dedicated to educating and informing patients, professionals and the public about the latest clinical advances, management and treatment options for neurologic movement disorders.

:: naadvocacy.org naadvocacy.org is the website of 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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The Advocacy for Neuroacanthocytosis Patients is Registered Charity Number 1133182 with the Charity Commission for England and Wales.

:: Previous Issues

NA News Issue 16

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Welcome to NA News Patient Special Issue

We continue to hear of new patients, families and carers from all over the world who are affected by neuroacanthocytosis (NA). This special issue of NA News is devoted to their stories, including the therapies and the pastimes they benefit from. In this issue we also remember patients who have sadly died. If you know someone who may be or has been affected by NA, please contact me at ginger@naadvocacy.org. See also the symptoms described in the margin to the left and let your doctor know about the free blood test that may offer a confirmed diagnosis. If you would like to report the death of an NA patient, either recently or in the past, please do not hesitate to get in touch. The NA News Issue 16 French version and NA News Issue 16 German version are both now available.

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Patients: Asia & Australasia

We hear from Mardi Williams (pictured) in Melbourne about her hobbies and exercise routine, and we also learn of Arshad Mahmood in India, whose brother writes to say that Arshad is experimenting with homeopathic treatments.

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Patients: Europe

Ernesto Montero from Caceres in Spain is helping care for his two brothers and sister with NA: David, Mario and Pilar. Alessio Fagrelli meanwhile has traveled to Italy where his brothers Riccardo and Fabio have NA and are cared for by their mother. Ernesto and Alessio have also recently met with NA patient Alex Irvine in London (pictured). European NA patients and their parents please note: NA News in French and NA News in German are now available.

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Patients: The Americas

We hear from Kristi Curtis in Indiana who benefits from exercise and drills in dexterity and is learning a new technique to improve her speech. Jon Pedersen in Virginia, meanwhile, has moved to an excellent assisted living facility in Virginia and Mark Williford reports on his active schedule, including water aerobics and volunteering activities in Florida. In Puerto Rico Nidia Santiago (pictured) is adapting to the changes imposed by living with NA, and Ed Ayala tells us about his recent writing work. In California, Sanjay Madan describes the activities that he finds most beneficial including meditation, mental exercises and memorising Biblical quotes.

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Patients: UK & Ireland

From the UK we get updates from Susan Hills near Darlington, from Alex Irvine in London, from Essex patients David Nicholson and Sean Mitchell, and from Lee Pickford also in Essex who was diagnosed following the free Western blot test. We also hear from Mervyn Curry who has joined a Northern Ireland rare disease group, and from Pete Clark about his allotment work.

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In Memoriam

We remember four NA patients who have very sadly died: Ming Sun Lau, Paul Beaupre, Alejandra Pando and Rob Ashford. Many thanks to their families for contacting us with the information. From Australia, Rob's sister Raine Petersen encourages you to to get in touch if you'd like to talk about families and NA.

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