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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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Fifth International Symposium sparks fruitful exchanges
Group photo
Group photo
On October 1-2, 2010, over 70 scientists gathered in Bethesda, MD, for a unique joint
meeting: “Brain, blood and iron: Joint international conference on neuroacanthocytosis and neurodegeneration with brain iron accumulation.” The meeting, which was the Fifth International Symposium on NA, marked the first time that a large group of researchers joined together to share their insights into the causes of neurodegeneration associated with both thorny red blood cells (acanthocytes) and deposits of iron in the basal ganglia.

The atmosphere at the conference was tangibly energised as researchers from these allied disease groups explored each other's thought-provoking work. Both conditions are associated with neuronal damage resulting in involuntary movements – usually chorea and dystonia, and cognitive and psychiatric impairment.

Seven early-career investigators from 4 countries were partially funded by the Advocacy; they were among the significant number of young investigators at the conference. Supporting early-career researchers, including helping foster collaboration with more senior scientists, is critical for future research into neurodegeneration, particularly as decreases in research funding across the board are limiting the total number of scientists entering these careers.


NA and NBIA: much to learn from each other


Ruth Walker opening the symposium
Ruth Walker opening the symposium
Conference attendees heard how one NBIA disorder, pantothenate kinase-associated neurodegeneration (PKAN), includes both red blood cell anomalies and iron accumulation; this has led to the hypothesis that there might be common causative pathways affecting both, red blood cells and neuronal cells. Different genetic causes of most of these diseases have been identified, but it is not yet understood how the abnormal genes result in disease.

In order to address the potentially diverse mechanisms of neuronal damage involved, scientists from a variety of disciplines convened.  These included hematologists, molecular and cell biologists, biochemists, and neuroscientists. Topics addressed included the biology of iron, mitochondrial metabolism, autophagy, membrane trafficking, mechanisms of erythrocyte shape, and transgenic animal models.
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