Cover Page»
:: 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.


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 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
  • 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

:: 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

:: Previous Issues
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

NA News

Email Address:

Stresa Symposium reveals significant insights for NA research
by Ruth Walker

We are delighted to report some encouraging progress from NA researchers funded by the Advocacy, including vital new insights into the function of chorein, the coded protein of the chorea-acanthocytosis (ChAc) gene VPS13A first discovered 13 years ago. The developments were reported at News Frontiers in Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside.

Taking place on 30 October to 1 November 2014 at Stresa, on the shores of Lake Maggiore, Italy, the meeting was our third joint symposium and was organized by Lucia DeFranceschi (University of Verona), Sonia Levi (Vita-Salute San Raffaele University, and the San Raffaele Scientific Institute, Milan), and Valeria Tiranti (IRCCS Foundation Neurological Institute “C. Besta”, Milan). This meeting continues to expand upon the formal collaboration between researchers studying these two groups of very rare neurodegenerative disorders which was developed at the first joint meeting in Bethesda in 2010.

The meeting brought together an international group of clinicians and basic scientists from a wide variety of disciplines, and was attended by over 120 participants. Patient group representatives, family members, and affected patients from around the world also met in parallel and participated in a joint session.

The meeting was generously supported by the International Parkinson Disease and Movement Disorders Society, in addition to the Advocacy for Neuroacanthocytosis Patients, AISNAF, AOUI-Verona, ApoPharma Inc., AISNAF, Emina-Two, European Science Foundation, the European Union, Instituto Neurologico Carlo Besta, NBIA Alliance, Ospedale San Raffaele, Proteostasis, Retrophin, Sistema Sanitario Regio Lombardia, TIRCON, Universita degli Studi di Verona, Universita Vita-Salute San Raffaele.

Significant progress has been made since the last joint meeting in 2012. The TIRCON project, the first double-blind, controlled, study in PKAN, is underway and very successfully recruiting patients. There are other promising compounds for NBIA disorders in the pipeline. New molecular techniques such as whole exome sequencing have led to the identification of new NBIA genes, and to expansion of the clinical phenotype of previously-identified genes. Work continues in the study of the effects of mutations affected genes in a number of model systems, including iPS cells, yeast, and drosophila.

Importantly, 13 years after the discovery of the chorea-acanthocytosis (ChAc) gene VPS13A, the first substantial insights into the function of chorein, its coded protein, were presented, utilizing disease models in Drosophila, yeast, the slime mould dictyostelium, and human induced pluripotent stem cells. Studies were presented of ion transport dysfunction in erythrocytes in the even rarer McLeod syndrome. Two other members of the VPS13 gene family were discussed; VPS13B, which is responsible for Cohen syndrome, and VPS13C, which was recently linked to frontotemporal dementia, thus suggesting a potential link with neurodegenerative processes.

The significance of acanthocytosis in PKAN, in addition to other NA syndromes, remains poorly understood. As the patient groups for the various NBIA syndromes become increasingly organized, the connection between the two groups of disorders may soon be re-investigated with systematic exploration of blood smears for acanthocytes. Plans are under way to continue this fruitful collaboration, which has benefited both the NBIA and the NA fields, at a meeting in 2016, most likely in North America.

Three early-career investigators were awarded scholarships to attend, to foster collaboration with more senior scientists in the field, and to support their continued contributions to the field.

We will continue to report further developments from our researchers in future issues of NA News.
Facebook Twitter LinkedIn | Comment (0)