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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

Ann Lippincott, mother of the late Marika Ann Critelli who died in November 2009, contributes this poem which she wrote shortly after Marika was diagnosed. Thank you, Ann, for these insightful and beautiful words.

Marika Ann Critelli, Santa Barbara, 1995
Marika Ann Critelli, Santa Barbara, 1995.
You wake up each morning
    Remembering the name of the diagnosis,
Vowing not to let it define your day
    Despite the immediate reminders
As you attempt to walk to the bathroom
    On legs that will not obey.

You begin each day
    Remembering the name of the diagnosis,
Vowing not to let it define who you are
    Despite the immediate reminders
As you attempt to swallow your oatmeal
    With a tongue that will not obey.

You go out into the world
    Remembering the name of the diagnosis
Vowing not to let it impact your interactions with others
    Despite the immediate reminders
As you attempt to engage in conversation
    With words that will not come.

You promise not to let the name of the diagnosis
Define who you are,
    Despite the missing first line
Of a poem that will not forget.

~ Ann Lippincott
March 14, 2009


Gordon Abernethy

The late Gordon Abernethy, who was a McLeod Syndrome (MLS) patient for many years, died in March 2011. He was in the Orchar Nursing Home in Broughty Ferry near Dundee, Scotland. His doctors included Esther Sammler MD who is in contact with Adrian Danek and Hans Jung in quest of a better understanding of MLS. Mr. Abernethy left a legacy of £10,000 to the Advocacy to support the research project at Dresden Technical University and the on-going diagnostic service and clinical research at Ludwig-Maximilians Universität, Munich. We are very grateful for this important contribution.

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