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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.

  • Patients' Centre
  • Clinic
  • Library
  • Symposia
  • NA News
  • Research
  • Fundraising


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Details revealed of October Symposium on Neuroacanthocytosis and NBIA

Details revealed of October Symposium on Neuroacanthocytosis and NBIA
Details revealed of October Symposium on Neuroacanthocytosis and NBIA
Details have been published of the agenda for the The Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation.

Hosted in The Netherlands from 26-27 October 2012, the symposium, "New breakthroughs in NA/NBIA -towards unravelling underlying mechanisms" is organised by Prof. Dr. Ody Sibon (Groningen) and Dr. Giel Bosman (Nijmegen). Further details and updated information will be published at the Symposium Website

The current schedule is as follows:

Friday October 26

Topic 1: Clinical studies
-Adrian Danek: A clinical review of the neuroacanthocytosis syndromes
-Susan Hayflick: A clinical review of the NBIA syndromes
-Thomas Klopstock: Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) - an integrated strategy under FP7 to improve research, treatment and care in NBIA

Topic 2: New genes
-Thomas Meitinger: Absence of a newly discovered orphan mitochondrial protein, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Topic 3: Pathophysiology and basic research
-Ruth Walker: Clinical insights from basic science in NA.
-Suzan Jackowski: Physiological Roles of the Pantothenate Kinases
-Lucia Franceschi: Erythrocyte membrane changes of chorea-acanthocytosis revealed by kinomics.
-Giel Bosman: Acanthocytosis in NA and NBIA: a molecular investigation into erythrocyte morphology and function.

Topic 4: Autophagy
-Fulvio Reggiori: Autophagy in Health and Disease

Saturday October 27

Topic 5: Erythropoiese
-Marieke von Lindern: Hematopoiesis in health and disease

Topic 6: Protein-misfolding (to be invited)

Topic 7: Towards strategies for treatment
-Thomas Klopstock: Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) - an integrated strategy under FP7 to improve research, treatment and care in NBIA.
-Ody Sibon: Pantethine rescues PKAN animal models.

Topic 8: The patients’ perspective
A round table discussion between patient organizations, family members, and basic and clinical researchers.

Invited speakers of each topic will present their up-to-date knowledge during a seminar, speakers will be selected from abstracts, selected “early career scientists” will also present their research during plenary sessions).

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