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
Section 1 Clinical aspects of neuroacanthocytosis
- 1-1 Introduction: movement disorder phenomenology
- 1-2 Follow-up of cases reported by Dr. R. Hardie in 1991
- 1-3 International efforts at case collection ("Virtual Institute")
- 1-4 Epilepsy in chorea-acanthocytosis
- 1-5 McLeod syndrome: brain and neuromuscular pathology
- 1-6 Chorein expression and neuropathology
- 1-7 Caudate nucleus pathology and obsessive-compulsive disorder in Chorea-Acanthocytosis
Section 2 Treatments
- 2-1 Drug therapies including botulinum toxin
- 2-2 Rehabilitation - Qualitative Interviewing - A patient's perspective
- 2-3 Biofeedback in dystonic syndromes
- 2-4 Deep brain stimulation for NA patients - forum
- Deep Brain Stimulation in Pantothenate Kinase Associated Neurodegeneration
- Deep brain stimulation for neuroacanthocytosis. Lessons from three cases
- DBS frequency screening for programming optimization in a patient with chorea-acanthocytosis
- Bilateral Deep Brain Stimulation of internal Globus pallidus in Chorea-acanthocytosis: New Neurological and Psychiatric Findings
Section 3 Related syndromes
- 3-1 Pantothenate kinase-associated neurodegeneration (PKAN): Hypotheses of pathogenesis and relevance to other neuroacanthocytoses
- 3-2 Huntington's disease like-2
Section 4 Genes and proteins
- 4-1 Soi1/Vps13 in budding yeast
- 4-2 The Tetrahymena thermophila Vacuolar Protein Sorting 13A protein (VPS13A) localizes to the membrane of phagosomes
- 4-3 Chorein and other human VPS13 proteins
- 4-4 Chorein (VPS13A) state and proteome analysis in chorea-acanthocytosis red blood cells
- 4-5 Genomic and transcriptomic analysis of the VPS13A gene in a Mexican American population sample
- 4-6 Pathogenesis of Huntington's disease-like 2 (HDL2)
Section 5 Reports on current research sponsored by the Advocacy
- 5-1 Production of antibodies against human VPS13 proteins
- 5-2 Analysis of functional and post-translational modifications in red cells from neuroacanthocytosis
- 5-3 Analysis of functional and post-translational modifications in red cells from neuroacanthocytosis
Section 6 Mechanisms of red cell membrane shape changes
- 6-1 The molecular basis of red cell membrane disorders
- 6-2 Protein interactions in the erythrocyte membrane
Section 7 Animal models
- 7-1 Recent progress on Kell and XK: Functional aspects of the two proteins learned from knockout mouse models
- 7-2 Mitochondrial apoptosis cascade is involved in the brain pathology of ChAc-model mice
- 7-3 Molecular mediators and environmental modulators of corticostriatal neurodegeneration leading to motor, cognitive and psychiatric symptoms: Insights from Huntington's disease mice