:: 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
  • RareConnect.org - Connecting Rare Disease Patients Globally. Neuroacanthocytosis community
  • 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 Advocacy for Neuroacanthocytosis supporting patients and promoting clinical and basic research.

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Welcome to NA News Issue 18
Welcome to issue 18 of NA News, where we keep you up-to-date with the latest information on research, patients, fundraising and other issues important to the neuroacanthocytosis community. In this issue, patients diagnosed with McLeod syndrome who are not currently on medication are urged to help with a Harvard Medical School study supported by the Advocacy. We also introduce our new trustee, Dr. Sheila Peskett, and bring you up-to-date on NA fundraisers – including the upcoming BigGive, where NA research needs your help more than ever to raise crucial funds. Please also see our brand-new website which makes it easier for you to connect with our community in your own language. Visit www.naadvocacy.org

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Calling McLeod's syndrome patients
 
100px-Harvard-Medical-School-Copyright-See-ming-Lee-on-Flickr
Can you assist a Harvard Medical School researcher with her current investigations into McLeod’s syndrome? Alicia Rivera PhD at Boston Children’s Hospital, Harvard Medical School, is currently conducting the study, The role of XK protein in Erythrocyte ion transport function.

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Upcoming NA symposium focuses on information sharing with patient groups
 
NA symposium
The upcoming NA symposium, set for 26-27 October 2012, aims to unite scientists from a number of fields as well as to give patients and their families a chance to meet and speak with researchers. Families are invited to attend free of charge a round-table discussion Saturday afternoon on "patient organizations and their role in EU funded projects."

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Visit the brand-new NA Advocacy website
 
The NA Advocacy's new website
Following significant development work, we've improved the NA Advocacy website www.naadvocacy.org with new features and enhancements that make it easier for our community to interact, including language translation services.

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New Research Grants announced by the Advocacy for NA Patients
 
Dr. Antonio Velayos Baeza, The Wellcome Centre for Human Genetics
The search for the elusive role of chorein (VPS13A), the protein that is missing from patients with ChAc, has been redoubled with a grant by the Advocacy to Dr. Antonio Velayos Baeza, co-head of the Monaco Group at the Wellcome Centre for Human Genetics, who has contributed to chorea acanthocytosis research for 10 years.

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Advocacy announces new trustee Dr. Sheila Peskett
 
Dr Sheila Peskett MA FRCP
The Advocacy for NA Patients is delighted to announce the appointment of Dr Sheila Peskett MA FRCP as trustee. Sheila is Group Medical Director for Ramsay Health Care UK and a Senior Medical Panel Member for the Tribunals Service.

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Support the BigGive, a vital source of research funds for NA
 
Can you support the BigGive for NA research this year?
Can you support the BigGive for NA research this year? This year the on-line campaign is from December 6-19th, and each year the Big Give plays a major role in helping fund the research activities we undertake at the Advocacy, including the grant awards you see announced in NA News. If you are able to donate on-line, look for details in the next NA News, or if you would rather send a cheque/check, please contact Glenn Irvine to become a pledger.

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FUNDRAISING UPDATE
 
Advocacy at the London Marathon
This year has seen much fundraising activity in support of NA Research. The Advocacy was thrilled to have a runner in the London Marathon in April, David Lewis, while May 6th just outside Edinburgh brought together local Scots and over 350 plants for sale, organised and managed by Sheila and Ralph Averbuch. As summer began, Fergus and Anna Cumming and Sophia Berry tackled 71 miles from Carlisle Castle to Hadrian's Wall. Card sales from Fiona Fleming and Gil and Gordon Parry's annual walk in North Wales have also made important contributions.

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IN MEMORIAM: Pamela Korb
 
Pamela Korb
We are very sad to report the death of NA patient Pamela Korb. Pamela lived with her parents, Heidi and Willi in Erfurt, a city that was reunited with western Germany in 1989. She was an active and enthusiastic person who played field hockey and loved to swim, shop, go for walks, ride her bicycle (later a Rollator-walking frame) and to talk with her many friends. She enjoyed her meals, especially when they ended with a sweet dessert.

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PATIENT UPDATE
 
Susan Hills Pastel
Updates this issue from Susan Hills in northern England, Kim Sonnet in Colac Australia and Alex Irvine in London. If you're an NA patient and wish to contact other patients, visit the new NA website and the Patient Centre which allows visitors to register and meet others.

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What readers said about the NA News Special Patient Edition
Thank you to everyone for their kind comments on our recent special edition of NA News devoted to patients. We've published a selection of the comments you sent us. Do you have comments or insights about NA News? Don't hesitate to contact Ginger at ginger@naadvocacy.org


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