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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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Research Update

Akira Sano, M.D., PhD

Professor in Psychiatry, Kagoshima University, Japan

Dr Sano, (seated, second from the left) with colleagues of the Chorea-Acanthocytosis (ChAc) Research Group, Japan

I moved to Kagoshima from Ehime, Japan in 2002 with several colleagues; Drs. Nakamura, Tomemori, Ichiba, and Kato. We had already reported the discovery of the gene, VPS13A, responsible for ChAc before leaving Ehime (Nat Genet 28: 121-2, 2001), which was based on our own clinical experiences with ChAc families.

Now, our group of psychiatrists is working at the Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, located at the most southwestern tip of the Kyushu island of Japan.

There are definite ChAc cases in this area and we reported neuropsychiatric characteristics of the patient’s clinical course (J Neurol Sci 263: 124-132, 2007). We reported other Japanese clinical phenotypes of ChAc presenting dilated cardiomyopathy (Mov Disord 22: 1669-1670, 2007) and upper motor neuron degeneration (Acta Neuropathol 119: 271-273, 2010) in genetically defined cases. Internationally, one third of clinically diagnosed ChAc cases have been reported from Japan.

At present, ours is the only laboratory in the world available for genetic diagnostic analysis for ChAc because VPS13A is so large to analyze as a clinical routine genetic test. We have recently developed a comprehensive screening method to identify mutations and/or copy-number variations in the VPS13A gene and to detect expression of the product of VPS13A gene, chorein, by Western blot analysis. We are studying the mechanism of neurodegeneration in ChAc at the molecular level as well as continuing clinical research. We produced a ChAc-model mouse using a gene-targeting technique to delete exons 60-61 which corresponds to the human disease mutation (J Neurochem 92: 759-66, 2005). We then demonstrated using this model-mouse that chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor (Biochem Biophys Res Commun 351: 438-42, 2006). We are now engaged in the research on finding chorein-interacting proteins.

 


 

Publications update

Dr Rainer Scheid

Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany

Development of mesial temporal lobe epilepsy in chorea-acanthocytosis: Scheid 2009 reports of three patients with chorea-acanthocytosis manifesting as a predominant epilepsy syndrome. It is pointed out that epilepsy surgery might be considered but has to be discussed very restrictively since seizures in ChAc are due to a familial disease. The article also raises problem that the contingent of cryptic epilepsy cases may be ChAc.


Pedro J. Garcia Ruiz, MD

Department of Neurology, Fundacion Jimenez Diaz, Universidad Autonoma and CIBERNED, Madrid, Spain

Deep Brain Stimulation in Chorea Acanthocytosis: Ruiz 2009 reports the treatment and follow up of a Spanish ChAc patient who underwent deep brain stimulation with positive effect on chorea and dystonia even twelve months after the surgery. Dysarthria was not improved and the electrical parameters of the stimulator had to be adjusted, but the patient came out better than before the surgery.

 

Benedikt Bader, MD

Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universitat, Munchen, Germany

Tongue Protrusion and Feeding Dystonia: A Hallmark of Chorea-Acanthocytosis: Bader 2009 reports in detail the mechanisms of the phenomenon of tongue protrusion dystonia while eating in ChAc. This is a diagnostic hallmark but also is involved in the tongue and lip biting and the subsequent weight loss in ChAc patients. Furthermore, swallowing problems are examined in detail revealing that the swallowing is obviously only impaired in the oral phase of swallowing. When the food passes the tongue, the mechanisms are intact again.

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