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

3-2 Huntington's disease like-2
R. H. Walker
Dept. of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx and Mount Sinai School of Medicine, New York, NY, USA

Huntington's disease-like 2 (HDL2) is an autosomal dominantly inherited neurodegenerative disorder characterized by a progressive movement disorder and cognitive impairment. HDL2 is due to trinucleotide repeat expansions in the JPH3 gene encoding for junctophilin 3, and is found almost exclusively in families of African ancestry, suggesting a founder effect. As with Huntington's disease (HD), age of onset is inversely related to the size of the repeat expansion, and there is likely to be anticipation with successive generations. Unlike HD, the expansion repeat size does not appear to determine whether the phenotype will be parkinsonian or choreiform. Acanthocytososis is found in approximately 10% of cases, for reasons which are unclear, and may result in diagnostic confusion. Neuropathological findings are very similar to those seen in HD, with striking atrophy of the caudate nucleus and putamen. As with HD, ubiqutin-immunoreactive and polyglutamine-immunoreactive intranuclear inclusion bodies are found throughout the cortex, however, recent evidence suggests that cytotoxicity is more likely to be related to cytoplasmic RNA inclusions.