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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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Amid sadness and grief, clarity
Marika Critelli

Speaking to people you love about preparations for after their death is never easy. But Ann Lippincott explains how a brief chat about brain tissue donation with her daughter ultimately made all the difference in coping with the grief of Marika's death.

It was August 2009, and I was visiting my 31-year old daughter, Marika, who had been diagnosed with chorea-acanthocytosis 8 months earlier. She was now ambulating with the assistance of a cane, her diet consisting of soft foods such as apple sauce and puddings. After she had showered and dressed for dinner that first night, I sat down on her bed for the chat that I anticipated would be difficult yet necessary.

“Honey, we need to talk,” I began. “I have been asked to help write a letter to people who have a diagnosis similar to yours. It’s a letter asking them to consider donating post-mortem brain tissue. That means after they die, they would agree to send their brain tissue to Dr. Bader and Prof. Danek – the researchers in Germany who confirmed Dr. Shale’s diagnosis – in order to further research into this rare and elusive neurological disorder that you have.”

My beautiful daughter nodded, encouraging me to continue. “I need your help because I cannot know what it is like to have what you have. I can’t possibly write this letter without your insight. Would you be willing to help me?” She readily agreed. I continued, “Sweetheart, even though your neurologist assured us that you will likely get to celebrate many more birthdays, when you do pass away, would you be willing to donate your brain tissue for research?” She looked at me steadily and said, “Oh, yes! Of course!” 

Little did we know then that a mere 3 months later, she would choke on a hot dog, an episode that ultimately would end her life. The accident occurred on a Wednesday evening in November. I had spoken with her at least 3 times already that day and had left a message on her voice mail – as it turns out – about the same time that the ambulance arrived on the scene to rush her to the Emergency Room.

By the time I arrived at her bedside in the Intensive Care Unit, she was heavily sedated. The doctors had told us not to expect any miracles, as her brain had been deprived of oxygen for approximately 10 minutes. However, they didn’t know Marika! By the weekend, she did regain consciousness. Nonetheless, by Monday afternoon we were in conversation with the palliative care team…

“My daughter wants to live. However, she wants to live a social life,” I told them. “I know this because, unlike most mothers and daughters, we have had this conversation. And, if this is the end of her life, I know that she wants her brain tissue sent to Germany for research purposes so that other families in the future can benefit.”

A deeply valued and scarce resource

As I look back on those days, the last few of my daughter’s life, I cherish the clarity that I had, despite my sadness and grief. That she and I had had the conversations helped me make some of the most difficult decisions with which I have ever been confronted. My daughter gave me a most beautiful gift in that regard – certainty about her wish to donate post-mortem brain tissue for research. Brain donations such as Marika’s provide researchers with the invaluable opportunity to examine the origin of NA symptoms. Such donations of post-mortem brain tissue are a deeply valued and scarce resource for researchers seeking to understand how the gene mutation interferes with the brain’s function in movement control. NA is not seen in other species, so human brain examination is vital. Such research offers hope that we can someday understand the pathology of this rare neurological disorder.

If your family would like to know what to do, should you find yourself in a similar situation to ours, please read on to learn about the practical arrangements for brain tissue donation.

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