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.

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.

  • Patients' Centre
  • Clinic
  • Library
  • Symposia
  • NA News
  • Research
  • Fundraising


:: Previous Issues
NA News Patient Special Issue

NA News Issue 16

NA News Issue 15
:: Join NA News

NA News

Email Address:
Remove

Gardeners unite for NA: London Marathon and "Rare Plants for Rare Disease Research"

London Marathon fundraiser goes the distance for NA

David Lewis
David Lewis
David Lewis, head gardener at the Virgin Roof Gardens Kensington will be running in this year's London Marathon on 22 April to raise funds for NA.

David is a former advertising executive settled in his garden designer role for a roof garden six stories up and 70 years old. He has a wide variety of activities to encourage others to participate in sustainable gardening.

School children from the borough are given hands-on demonstrations of bulb planting and advice about planting for their school gardens. There is also a garden club with speakers and sharing of gardening experiences. We wish him well on April 22! Please consider making a donation to support David's big run for NA. To make a donation online click here: David Lewis London Marathon Fundraiser for NA 


UK plant nurseries are joining together with the gardening blog Stopwatch Gardener in a special NA fundraiser
UK plant nurseries are joining together with the gardening blog Stopwatch Gardener in a special NA fundraiser
Rare Plants for Rare Disease Research fundraiser in Edinburgh

UK plant nurseries are joining together with the gardening blog Stopwatch Gardener (www.stopwatchgardener.com) near Edinburgh in a special NA fundraiser, "Rare Plants for Rare Disease Research." The event, to be held May 6th between 10am and 1pm in East Lothian outside Edinburgh, is organised by blogger Sheila Averbuch and supported by Beth Chatto Gardens, Otter Farm, Crug Farm Nursery and Birchwood Plants of Mottisfont in Hampshire. All nurseries are donating rare or unusual plants for the sale, which will also feature familiar garden plants, teas and cakes for sale.

Any other gardens or nurseries willing to donate unusual plants for the sale should email mailme@stopwatchgardener.com. If you would like to support the Advocacy but cannot attend the event, please consider making a financial donation at the dedicated fundraising page: Rare Plants for Rare Disease Research.

Sheila, whose content services company ENNclick publishes each issue of NA News, said she was keen to draw attention to the fact that rare diseases like NA should be supported by long-term government-backed research funding. "Rare diseases like NA urgently need sustained sources of financial support, but until that happens, it's fundraisers like this plant sale which can make all the difference to raising awareness and funds," Sheila said. "One of my big messages is, rare disease research should not be supported by plant sales, but by sustained and long-term funding."

Share | 0 Comments | Post a Comment