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:: 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.

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

  • 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
  • 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



:: naadvocacy.org

naadvocacy.org 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.

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In Memoriam
Tim Hayes

Tim Hayes -- in memoriam

We're very sorry to report the death in February 2011 of Tim Hayes, 53, who along with wife Laurie kept in regular touch with the Advocacy. Tim lived in Minnesota and became a police officer after school; his symptoms started in 1986 and he tried to keep in touch with other patients and their families on-line in the early days of the internet. He often described in humorous terms how his symptoms had changed and how he overcame some of the frustrations of living with NA.

Tim inspired us all with his courage and determination not to give up. He was a very persistent patient, calling for the advocacy community to do something; he never failed to point out how dreadfully neuroacanthocytosis affects a person's life. Tim kept reminding us all how important it is to remain positive and resist helplessness. Laurie describes Tim as someone who was loving, interested in everything, and above all tenacious. "You had every reason in the world to give up, but you never did," For Tim's memorial, Laurie wrote in a letter to her husband, "You took the hand life dealt you and made it a full, proud, amazing life. We will forever remember your smile, your thumbs-up, your love of life."

Maria Isabel Aparisi, on the left

Maria Isabel Aparisi -- in memoriam

From near Valencia, "Mabel" passed away aged 33 at the beginning of April 2011. She was put in touch with Spanish patient in Madrid, Ana and family, and they met on holiday in Valencia. Ezequiel, Ana's husband, reports that they recognised a pleasant and happy woman. She was always smiling and always had something to report.

They all visited the Oceanographic Science Museum (pictured) and Mabel would run from one place to another. When Ezequiel asked her why she ran instead of walking, she simply said that she ran better than she walked; other patients have also reported this scenario.

 

Denise Ball -- in memoriam

Denise, sister of Peter, passed away in November of 2009, aged 58. She was the light in many people's lives, not only because her eyes sparkled but also her heart was caring and generous. Denise's family extolled the life of Denise who lived with NA for over 20 years after being diagnosed in the late 1980s.

Denise Ball with Charlie Stephens

Denise was born in Whitehaven, Cumbria, the elder sister of Jacqueline and Peter. John and June and the family lived in Stockton for many years. During the school years Denise studied history and economics and visited forts, castles and Holy Island. She obtained a teacher's degree in Newcastle and taught at a British military school in Germany before working with Laker Airlines at Gatwick Airport. In the early 1980's she moved back to Stockton and met her partner and soulmate of 27 years, Charlie Stephens. Through her years in care homes, Denise continued to enjoy her music, shopping (she was a fashion devotee)and visits to the pub with her carers.

Denise had a sense of fun and was good humoured; she had strength and tenderness and often rose above the frustrations of her symptoms and just settled with a smile. She was passionate about contributing to research into NA and adamant that her brain tissue be sent to the data bank in Munich, for which all doctors and researchers are very grateful.

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