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.
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.
IRDiRC summit underscores need for rare disease collaboration By Dr. Adrian Danek from Ludwig-Maximilians-Universität Munich, Germany
April 16-17 2013 saw the first ever conference of the ambitious new international network, the International Rare Diseases Research Consortium, hosted in Dublin in the context of Ireland's presidency of the European Union.
Prof. Adrian Danek, coordinator of the EMINA consortium, at the IRDiRC meeting in Dublin April 16, 2013, together with his Munich colleague Prof. Klopstock (right). Thomas Klopstock coordinates the EU network TIRCON (“treat iron related childhood onset neurodegeneration”) that deals with the neuroacanthocytosis (NA) syndrome of PKAN and with neurodegeneration with brain iron accumulation (NBIA). The NA/NBIA link, after the two conferences in Bethesda 2010 and Ede 2012, will further be strengthened by the meeting of the two communities of researchers and patients taking place in Northern Italy in 2014..
The meeting, which included a poster presentation by Dr. Adrian Danek on the European Multidisciplinary Initiatives on Neuroacanthocytosis (EMINA and EMINA-2), was supported by the European Commission and the US National Institutes for Health (NIH). The international consortium itself was launched in April 2011 to foster international collaboration in the rare diseases field.
The goals of the IRDiRC, by the year 2020, are to diagnose practically all rare diseases and to deliver 200 new therapies for them. The consortium tries to harmonize the efforts of science, industry and politics in the field to achieve the momentum necessary for its bold aims. This ambition was clearly reflected in the conference's opening address by Christopher Austin, the director of the National Center for Advancing Translational Sciences within NIH: “Make no little plans; they have no magic to stir men's blood," Austin said, quoting Chicago skyscraper architect Daniel Hudson Burnham (1846-1912). "Make big plans; aim high in hope and work.”
Translating discoveries into practice
Apart from diagnosis and treatment of rare diseases, the central topic of the meeting was the translation of new discoveries into practice (“bench to bedside”). The amazing acceleration of genetic diagnosis and of gene discovery by mass collection and analysis of genetic and clinical data was most obvious when the new Chinese partner of IRDiRC, BGI Shenzhen, presented its technical facilities and approaches (“The 1000 Genomes Project”).
Of particular note were also the efforts the “Undiagnosed Diseases Program” of NIH, the Canadian “Finding of Rare Disease Genes” (FORGE) collaboration, and of the Italian Telethon foundation. Several models of partnering with small biotechnology companies and/or “big pharma” were presented and discussed.
Rare diseases and big pharma
For pharma, rare diseases offer a more focussed understanding of pathology and of possible interference with specific metabolic pathways that eventually might apply for common conditions, too. The rare disease field is an obvious model for the development and commercialization of innovative drugs. Promises of accelerated approval of such drugs by the regulating agencies might considerably reduce the number of patients necessary in drug trials.
The important concept of “re-purposing” shows one further possibility: drugs already available on the market can be screened in high-throughput approaches for their usefulness in conditions that had originally never been considered relevant or were just not known. This approach, together with “trial readiness”, appears to provide the most direct route at treatment currently available.
International collaborative efforts and data sharing are key
Overall it was obvious that the field of rare diseases world-wide is moving at a considerable pace, and that individual benefit for sufferers from one of these conditions will only result from international collaborative efforts, and from sharing of biologic samples and of data collected in large case registries.
Also discussed were the incentives for individual researchers on whose contribution data quality critically depends. Acknowledgement of their support, in an age of hunting for impact factors, must be better regulated and the model of “microattribution” was proposed as one possible approach. The concepts of “microattribution”, “trial readiness”, and “drug re-purposing” are valuable new elements in the discussions of future directions for neuroacanthocytosis research.
