:: 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.

Patients
Clinicians/Reserchers
What is NA?
Support Us
Our patients
Neuroacanthocytosis Research
Research Grants
NA Newsletter
Library
Symposia
Contact Us

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

:: Previous Issues
Don't miss the Big Give! Double your donation to NA research this Thursday

NA News Issue 24

NA News Issue 23

NA News Issue 22

NA News Issue 21

NA News Issue 20

NA News Issue 19

NA News Issue 18

NA News Issue 17

NA News Patient Special Issue

NA News Issue 16

NA News Issue 15

NA News Issue 14

NA News Issue 13

NA News Issue 12

NA News Issue 11

:: Join NA News



A tribute to Glenn Irvine: your memories and ours

Glenn Irvine - A tribute

By now, most of you in the NA community will know that Glenn Irvine, husband of Ginger, father of NA patient Alex, and founder of the Advocacy for Neuroacanthocytosis Patients, died of cancer in March of this year, leaving those who loved him shocked by the terrible suddenness of his decline.

It is impossible to sum up in a few words how bereft Glenn’s death has left us. But we are extremely grateful and comforted by the avalanche of memories and reflections his friends sent to us in reply to the news.


Read more»
Comment (0)


Next NA meeting set for University of Michigan

Next NA Meeting to take place University of Michigan

The next NA Meeting is to be held on 13-15 May 2016 at the University of Michigan in Ann Arbor, Michigan. To expand the pool of ChAc researchers, accomplished basic and translational researchers from outside the field have been invited and will subsidize attendance of a cadre of talented junior investigators, who will be full participants in the meeting. The small size, workshop format, and interdisciplinary nature of the meeting will maximize participant interactions, and the formal sessions and workshop will be enhanced with social events and a poster session.


Read more»
Comment (0)


FUNDRAISING UPDATE
Sponsored events in May 2015 garner vital funds for NA research

Fundraising Update
Each year the month of May brings the Chelsea Flower Show to London, but in North Wales the Hawarden Walk has become the local attraction, with this annual sponsored trek supporting the Advocacy and the Epilepsy Society in the UK. Gill and Gordon Parry have organised this event for many years and attract a large group of walkers who gather to walk the trails on the Gladstone Estate. After the collection of Gift Aid, this year's walk in May 2015 will have raised approximately £3000 for NA. Many thanks to all.

Comment (0)


Charity Craft Fair planned for London, 6-7 November
Charity Craft Fair

There will be another Charity Craft Fair in London 6 and 7 November on behalf of NA. Many of the craft people involved in last year's event will return and new artists will appear. Jane and Jill Willingale of Loudware will have more exciting jewellery and  Rob Turner will bring his china. See the NA website for further details. http://www.naadvocacy.org
Comment (0)


Talented craft-makers support NA research

Talented craft-makers support NA research

Many friends of the Advocacy joined the talented craft makers last year on 5th and 6th of December 2014 for a display of beautiful works suitable for Xmas gift giving. The efforts of dedicated supporters of NA raised nearly £1000. Thank you all!

Read more»
Comment (0)


RESEARCH UPDATE

Research Update -- Ruth Walker

Two new reports are now available from "New Frontiers in Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside," the NA symposium with took place last November in Stresa, Italy.

The reports, put together by Ruth Walker and published by the Movement Disorder Society and in the journal "Tremor and other Hyperkinetic Movements", are must-reads for all affected, interested and involved in any way with this ultra rare disease.

The first article is a broad overview of the Stresa meeting.

This article in the Tremor Journal provides a compilation of all the abstracts from the meeting.

Thank you Ruth!

Comment (0)


8th European Plenary Meeting of European Huntington's Disease Network

8th European Plenary meeting of Huntington's

The 8th European Plenary Meeting of the European Huntington's Disease Network last September 2014 was one of the last symposia Glenn was able to attend before his death.

Glenn and Ginger travelled together to Barcelona to attend the meeting, where over 900 people gathered to share updates of research and care of patients.

Outgoing Network President Bernhard Landwehrmeyer summarised 10 years of the organisation and reiterated that the immediate goal for HD families, scientists, clinicians and industry is to find ways of intervening in the disease before the onset of most of the symptoms. To read the report of the meeting see https://www.euro-hd.net/html/ehdn2014

Ginger and Glenn spoke to many patients and families and benefitted from the small sessions addressing the issues most useful for NA patients/families. They also displayed a poster about NA and spread the word about a movement disorder disease similar to Huntington's.

Comment (0)


PATIENT NEWS

Patient News

Alejo Montoliu, Barcelona; Monterros family of Spain; Mike Koutis in Canada; Two patients' families in Puerto Rico; Ana in Madrid; Silvia Chuiz and sister Frederica in Italy; Parry family in Wales; Mark Willard


Read more»
Comment (0)