:: 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

  • An excellent review of neuroacanthocytosis including chorea-acanthocytosis, McLeod syndrome, Huntington’s-disease-like 2 and PKAN is available free on-line. This is a service of the  National Institute for Biological Information that is associated with the American National Institutes of Health.
  • 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


:: naadvocacy.org


naadvocacy.org is the website of the Advocacy for Neuroacanthocytosis supporting patients and promoting clinical and basic research.

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The Advocacy for Neuroacanthocytosis Patients is Registered Charity Number 1133182 with the Charity Commission for England and Wales.

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:: Join NA News



NA conference details for Ann Arbor now available



The upcoming Chorea-Acanthocytosis and Intracellular Transport Meeting, set for 13-15 May 2016 in Michigan, comes at a time when ChAc research is at an important juncture.

Interesting recent results on VPS13A structure and function indicate the prospect of considerable progress in understanding ChAc pathogenesis. Members of this gene family are also implicated in other neurodegenerative diseases. Considering the growth in understanding intracellular transport processes, and the increasingly strong links between these processes and neurodegenerative disease, progress in understanding ChAc pathogenesis and the function of VPS13A may cast light on both the pathogenesis of other neurodegenerative disorders and the cell biology of intracellular transport.


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Patients and carers meeting to enhance Ann Arbor conference

Next NA Meeting to take place University of Michigan

The Organising Committee at the University of Michigan and the NA Advocacy is delighted to see the addition of a Patients/Carers meeting alongside the scientific meeting at the Chorea-Acanthocytosis and Intracellular Transport Meeting in May in Ann Arbor.

The purpose of this meeting at the Taubman Biomedical Science Research Building is to meet others affected by NA, including their family and carers, for support and information, and also to discuss the future of the Advocacy for Neuroacanthocytosis Patients. We are a small, web-based charity registered in the UK and are looking for volunteers who might be interested in taking over some of the organizational aspects of the group and extend the reach globally.


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Live stream via the web opens Ann Arbor meeting to the NA community

400px Image copyright David Cosand - dcosand @ Flickr

We're delighted to announce that those in the NA community not able to attend the meeting in Ann Arbor will be able to view the proceedings via the web, using a live stream. We'll communicate further details as they become available. Please note Michigan is in the same time zone as the US East Coast - five hours behind the UK and six hours behind the rest of Europe. We are pleased to be able to do this and look forward to your comments after the event.



Neil Price named to Advocacy Board



We are delighted to welcome Neil Price to the Advocacy Board. Neil's career encompassed Chartered Accountancy, Senior Investment Management (Highlands and Islands Development Board in Inverness and Orkney) and his own practice, Orcadia, Chartered Accountants in Orkney. This business has grown and expanded to a firm of three partners and 20 staff. Neil retired in 2014 and moved to London with his wife, who serves as assistant minister at St Columba's, Church of Scotland. They both sing in a choir and participate in the life of the church. Neil was appointed General Trustee of the Church of Scotland in 2014 and attends monthly meetings in Edinburgh.


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FUNDRAISING UPDATE
Hawarden walk on 14 May in North Wales

Once again Gill and Gordon Parry have organised a sponsored walk in aid of NA and the Epilepsy Foundation in Hawarden, North Wales. The date for this year's 4 mile stroll through the Park which was the estate and home of William Gladstone, the 19th Century Prime Minister is May 14 at 10:30, meeting at the Tinkersdale Car Park.

The memory of their three children is honoured by friends and neighbours who are sponsored each year and have raised over £100,000 to support the work of these two charities. Walkers, including children and dogs, will come prepared for all weathers. The photo shows a previous walk. Results will be advised in a future NA News.



Practical ideas to raise funds for NA research



Our fundraisers are a remarkable group of people; we appreciate all their efforts to continue our funding of research projects around the world. As you have read, these creative patients, family members and friends are dedicated to using their strengths and talents to find ways to appeal to donors in their own personal ways.

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Christmas fundraiser nets funds for NA research


Gordon and Gill Parry have been as busy as ever in raising funds for our research; the latest photo comes from a local Christmas fair which attracted 10,000 people through the door! The total of over £500 was added to previous income from other sales events and our NA fund received £3200. We are so pleased Gordon and Gill continue to play such a valuable and most appreciated role in the Advocacy.



Spring concert in North Wales set for last day of April



Gordon Parry was a member of the Flint Male Voice Choir and his Musical Director, John Stone, returns to Wales in May with his new choir-Andante Chamber Choir, to benefit both NA and the Cathedral.

By special invitation, John’s unaccompanied choir travels from Scotland to perform in North Wales at St. Asaph Cathedral at 7.30pm on Saturday 30th April with two sequences. Click here for details.


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Christina's Run in Rome inspired by NA stories



Christina Liu, an American living in London, recently contacted the Advocacy to offer her help in fundraising. She said "I met someone who told me their family was affected by neuroacanthocytosis. When I perused through your Advocacy website, I was really touched by all the stories and the effort that you've put in for Alex and the others affected by this devastating neurological disease."

Christina has run a half marathon for Alzheimer's Association previously. She is scheduled to run in the Rome marathon on April 10th and is asking for sponsors for NA. Christina's fundraising website will be live for the next few months, so there's time to make a donation here if you'd like to support her and NA research. Click here to donate.

To introduce this event Christina invited friends to her flat for a Good Friday meal and an opportunity for Ginger Irvine to describe the Advocacy's work and a short slideshow of her daughter Alex's experience of living with Chorea-acanthocytosis.



Successful cycling fundraiser in Spain contributes to research efforts



Ernesto Montero, brother of NA patients Pilar, David and Mario has raised Euros 825 for NA through the running and cycling event organised by the local council of San Silvestre in Moraleja in Spain. Our thanks to Ernesto and his family who have contributed so significantly to our efforts to find a cure for this devastating disease. Well done!!



RESEARCH UPDATE
World map shows Western Blot reach



A global map shows the remarkable reach of the successful Western Blot test, a free blood test which is supported by the NA Advocacy to help deliver definitive ChAc diagnoses to patients and their families.

Adrian Danek reports that as of December 22, 2015 their laboratory received 566 samples, of which 327 were Male and 227 were Female (there are some duplicates). Of these 164 were diagnosed as ChAc with Western blot (29%); 106 were male and 58 female. Approximately 20 new samples have been received since then. 

There are of course more patients in the world who have been diagnosed by other methods.



Warsaw meeting to unite leading researchers in rare neurological disorders



Adrian Danek is to speak at the meeting of the European Network for Rare Neurological Disorders in Warsaw on 23 April. The Visegrad Group which is comprised of Hungary, Poland, Slovakia and the Czech Republic, is hosting the event, which will highlight the current situation, practices and research priorities.

Dr. Danek will speak about his experience of the Neurocanthocytosis Network, both building the group and structuring the direction of the research projects. Other speakers include Professor Bernhard Landwehrmeyer, former President of the European Huntington's Disease Network who will share his global experience with research into HD and his expectations for future work. Professor Landwehrmeyer has been a notable supporter for research work in NA.

The Advocacy is pleased to support Dr. Danek's attendance at the Warsaw meeting.



ChAc talk at the 20th International Congress of Parkinson’s Disease and Movement Disorders



Ruth Walker reports that she is giving a plenary on “Treatment of chorea”, at the 20th International Congress of Parkinson’s Disease and Movement Disorders, Berlin, Germany on June 19th 2016, and will be taking the opportunity to speak about ChAc.


Researcher's tribute to Glenn Irvine



Doda Rudnicki is a researcher for NA at Johns Hopkins University; her research grant is for a project titled Chorea-Acanthocytosis and Intracellular Transport. She will speak at the upcoming Ann Arbor meeting. In December 2015 Doda gave a presentation at the University and sent us a screen shot of a slide she used after her acknowledgements the end of her presentation.

The slide reads "A tribute to Glenn Irvine. Glenn Irvine founded the Advocacy for Neuroacanthocytosis Patients and had a tremendous impact on the research of neurological diseases involving abnormally spiked red blood cells (acanthocytes). When I left Croatia, I thought my life would be full of people like Glenn. The truth is very smart, humble, and inspirational people are very rare wherever you go, and you only get a few chances in life to meet them. Make sure you don't miss this chance!"

Thank you Doda for a lovely tribute.



PATIENT NEWS
Inspiring words from Italian book on life with NA

Patient News

Thanks to Alessandra Gnudi who has helped us prepare a translation of the following passage from NATA PER AMARE by Silvia Cavallini, sister of NA patient Frederica. The book, which was mentioned in our last issue of NA News, has been published in Italy. Silvia said she hopes "that people who read this understand that in the hard moments, even if it isn't simple, the important thing is never give up." Authored by Silvia, the book is told in the voice of Federica and gives insights into her life with NA. Click through for details on the passage, which has been translated into English.


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Exhibition by artist Ernesto Montero at NA conference



Ernesto Montero will be attending the meeting in Ann Arbor in May, where he will be exhibiting a selection of his paintings. We welcome the addition of visual works of art on paper in addition to the regular medical posters. As brother of three siblings who are living with chorea-acanthocytosis, he has been partnering with his mother to care for his family. In the last year he has returned to his painting and will display some of these at the meeting. We thank him for his efforts and look forward to his presentation in May.



Spanish documentary sheds light on life with NA



In November 2015 Luis Ernesto Montero sent us this site to view a film about his family, narrated by his mother Pilar: Mujeres.son (28/10/15) | Canal Extremadura. This story was first broadcast on Spanish television in an interview with Pilar, a remarkable 77 year old mother of five children from Moraleja Spain. Four of her youngest children have neurocanthacytosis. Click through for a translation of a section from the film.


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