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
1-2 Follow-up of cases reported by Dr. R. Hardie in 1991
Institute of Neurology, University College London, London, UK
In 1991, Dr. Hardie described the clinical and pathological features of 19 cases of neuroacanthocytosis, resulting in the largest series reported with this rare disorder. During the past 15 years, there have been many advances in our understanding of the neuroacanthocytosis syndrome, including the identification of several different molecular causes. We have revisited the original Queen Square series in an attempt to correlate the clinical picture and natural history of each case with the new genetic findings.