Welcome to Virtual Neuroacanthocytosis, a submodule of the European Huntington´s Disease Network (EHDN)
In cooperation with EHDN, this platform is dedicated to the neuroacanthocytosis syndromes and provides sources of information for patients, relatives and physicians on how to cope with these diseases. Furthermore, international physicians can use this platform to enter pseudonymized data on their neuroacanthocytosis patients. As these diseases are extremely rare every contribution counts to increase our knowledge about diagnostics, the clinical syndrome, and therapeutic strategies. The knowledge and the tools kindly granted by EHDN are a great help to build a worldwide case register and help international researchers advance their projects. Understanding the disease is crucial for all efforts to develop therapies, and is greatly facilitated by this opportunity for international collaboration.
Diagnostic of chorea-acanthocytosis
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 the shippment of specimen: PDF
Useful forms (study information, consent forms, medical release form): LINK
More information of the method: PubMed Link
The Differential Diagnosis of Chorea
The involuntary movement disorder known as chorea can be due to a wide
variety of neurological conditions, both genetic and acquired. This
volume provides a comprehensive account of these conditions. While
Huntington's disease is the prototypic inherited chorea, with the
development of the genetic test for this disorder it has become apparent
that a small but significant proportion of patients with this phenotype
do not have this diagnosis. Although less common than Huntington's
disease, it is vital to correctly diagnose these patients. Advances in
molecular medicine have resulted in the identification of new genetic
causes of chorea and expanded the phenotype of disorders not typically
thought to cause this movement disorder. Non-genetic etiologies are
discussed, including medications, structural lesions, psychogenic
causes, and metabolic abnormalities. This book describes in detail the
latest clinical and etiological information regarding the causes of
chorea. Psychopathology, management, and pathophysiology of chorea, are
also addressed. Many chapters are contributed by authors working at the
forefront of research in the specific disorders, and provide the latest
basic and clinical research, some from their own laboratories.
Click the picture for more information at amazon.com.
Neuroacanthocytosis Syndromes II
The second volume of Neuroacanthocytosis Syndromes was published in December 2007. Edited by Ruth H. Walker, Shinji Saiki and Adrian Danek, the book provides a profound insight into recent developments within the field of neuroacanthocytosis syndromes. Click here
for more information at amazon.com.
Researchers at the University of Munich Neurology Department receive funding by the E-RARE-Programme of the European Commission (ERA-Net)
A three-year research grant has been awarded to Prof. Dr. Adrian Danek and Dr. Benedikt Bader of the Ludwig-Maximilians-Universität Munich, Department of Neurology, and their collaborators. The grant, valued at around €650,000 , was won with the support of the Bayerische Forschungsallianz (Bavarian Research Alliance, specifically with the help of Dr. Florence Gauzy and Dr. Panteleimon Panagiotou) and is allocated in connection with the E-RARE Programme of the European Commission.
The project name is EMINA (European Multidisciplinary Initiative on Neuroacanthocytosis). From mid-2010, six partner organisations in Germany, Austria, the Netherlands, France and Turkey will be linked to each other in a network, in order to use their combined expertise to take a significant step forward in both basic research and applied clinical research into the neuroacanthocytosis syndromes. These syndromes are a group of rare neurological illnesses, which affect mostly young adults of approximately 20 to 40 years of age. Severe neurological and psychiatric symptoms that include movement disorders, swallowing and speaking problems, epileptic seizures and obsessive-compulsive behavior are characteristic of these diseases. Since 2005, there has been a unique facility in Munich that offers physicians internationally the opportunity to discuss suspected neuroacanthocytosis cases and request a diagnostic blood test for the most common syndrome in the group. In cooperation with the Neuropathology and Prion Research Centre of the Universty of Munich (Prof. Dr. Hans A. Kretzschmar) and with the support of the Advocacy for Neuroacanthocytosis Patients (Ginger and Glenn Irvine), this test is offered free of charge to the submitting physician.
”Our intensive preliminary work over the last few years has brought us to a decisive point in neuroacanthocytosis research, and hitherto existing options did not allow us to progress further. Support for EMINA now enables us to extend our knowledge considerably, and these findings will have a direct effect on deepening our understanding and on the treatment of the neuroacanthocytosis syndromes,“ says Prof. Adrian Danek. “Furthermore, we expect the EMINA project to also influence research into the mechanisms involved in other neurodegenerative disorders such as, for example, Huntington’s disease. Thus the EMINA project will bring long-term benefits, as the insights gained can also be used to develop new therapy options for a larger group of patients, not only sufferers of the rare neuroacanthocytosis syndromes.”