Fourth International Symposium on Neuroacanthocytosis

Abstracts from the Fourth International Symposium on Neuroacanthocytosis

July 1-2, 2008
London and Oxford

Chairs: Prof. Kailash Bhatia, MD, FRCP, Institute of Neurology, University College London; Prof. Anthony P. Monaco, MD, PhD, Wellcome Trust Centre for Human Genetics, University of Oxford

Organizers: Antonio Velayos-Baeza, PhD; Susanne Schneider, MD; Glenn Irvine

8-1 Neuroacanthocytosis - new directions for collaboration and research
J. Hardy
Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, London, UK

The field may benefit from support from the National Institute for Neurological Diseases and Stroke together with the National Heart, Lung and Blood Institute (Bethesda, MD), as neuroacanthocytosis is a unique disease for research into neurodegeneration because of the relatively simple system of pathogenesis.

DNA from genetically-proven cases of NA diseases should be tested for SNPs to identify subtle variations in genes that may be modifiers. Rarer syndromes may be associated with genes that are yet to be found. New technologies which are suitable for these studies are now available at reasonable cost.

Genetic modifiers of the phenotypes should be explored by creating an international case database (as is currently underway).

Frontal temporal dementia linked to chromosome 3 should be added to the conditions being studied as a newly implicated gene (CHMP2B) involves the same pathway as VPS proteins.

The focus on acanthocytes might be a "red herring", an artifact of the disease pathway rather than a crucial link or cause, thus research should be guided by the pathology of the diseases rather than the symptoms.

In discussing the use of descriptive clinical scales to evaluate patients with NA, different scales may be useful in diagnosis from those that may determine a treatment effect.