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 25

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

Patients and carers meeting to enhance Ann Arbor conference

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.

We are pleased thirteen patients and 16 family members will be attending the first NA programme specifically organised for them.

The Agenda for the weekend:

Family meeting 12-14 May 2016
Biomedical Science Research Building, 109 Zina Pilcher Place, Ann Arbor

Friday 6pm:  Dinner at the Ann Arbor Regent Hotel (2455 Carpenter Rd, Ann Arbor) with other patients, families and caregivers

Saturday:  bus will collect you at 6:45 and deliver you to the Research Building

7:00am - 8:00am   Continental Breakfast** 

8:15am – 8:30am: Introduction* (Kahn Auditorium)

8:30am – 9:00am:  ChAc 15 years after identification of the VPS13A gene: Past accomplishments and present challenges**, Adrian Danek, MD, Department  of Neurology, Ludwigs-Maximilians-Institute, Munich, Germany

9:00am - 9:30am: Session with ChAc patient and family**, Alex and Ginger Irvine, London;  Ruth Walker, MD, PhD, Department of Neurology, James J. Peters VAMC, Bronx & Mount Sinai School of Medicine, NY

9:30am – 10:00am:  break -  move to Room D

10:00am – 11:00am:  Introductions of all patients/caregivers

11:00am – 12:00pm:  History and Background of the Advocacy for Neuroacanthocytosis Patients, Ginger and Alex Irvine- Q&A

12:00pm - 1pm Lunch**

1:00pm – 1:45pm: Physical Therapy for NA, Jo Klein, Physical Therapist, Department of Physical Medicine and Rehabilitation. University of Michigan

1:45pm – 2:30pm: Speech and Swallowing Evaluation and Intervention for NA, Karen Kluin, MS, CCC, BC-ANCDS, Speech-Language Pathologist, Department of Speech-Language Pathology, and Clinical Assistant  Professor, Department of Neurology, University of Michigan Health System

2:30pm – 3:15pm: break

3:15pm – 5:00pm:  Usui Reiki Ryoho - a Japanese relaxation/healing practice for care in body and mind, Andrew Anders, Reiki Master Teacher

5:00pm – 7:00pm:  Poster Session**

7:00pm – 9:00pm:  Reception-Dinner**
Sunday:  bus will collect you at 8:15 at the hotel and bring you to the breakfast and meeting

8:30am – 9:30am:  Continental Breakfast

9:30am – 10:30am:  Medical Q&A, Adrian Danek, MD and Ruth Walker, MD, PhD

10:30am – 12:00pm:  Moving forward: Discussion of needs of the Advocacy for Neuroacanthocytosis Patients, Ginger Irvine

Patient registry, Adrian Danek, MD

12:00pm – 1:00pm:  Lunch

Transportation provided from meeting site to airport.

**Joint sessions with scientific program in Kahn Auditorium

This meeting is being supported financially by the University of Michigan School of Medicine and the Rackham School of Graduate Studies, the Departments of Neurology and Biological Chemistry, philanthropy, a grant from the Advocacy for Neuroacanthocytosis and Neurocrine.
Facebook Twitter LinkedIn