Recent Advances in Genetics and Molecular Biology in Global Neurology

Integrated Neuroscience Session

Monday, April 27, 2:00–6:00 p.m.

The pace of discoveries in neurogenetics and molecular biology has increased dramatically. Although research has tended to focus on diseases that differentially impact high-income countries, these research tools are recently being applied more frequently to disease more prevalent in lower income countries. Furthermore, global variation in disease prevalence has been used as a tool to define the underlying genetics of some diseases. Variation in regional regulation will continue to impact opportunities for future research.

• 2:00–2:20 p.m. Neurological Disease on the Global Agenda, Julie Jacobson
• 2:20–2:40 p.m. The Genetics of Multiple Sclerosis and Global Disease Variation, Stephen L. Hauser, MD
• 2:40–3:00 p.m. Neurogenetics: The European Perspective, Christine Klein, MD
• 3:00–3:20 p.m. Neurogenetics: The US Perspective, Fuki Hisama, MD
• 3:20–3:30 p.m. Discussion and Questions

• IN2-1.001 A new RAB7 mutation in a large French Charcot-Marie-Tooth 2B family, Emmanuelle Salort-Campana, MD
• IN2-1.002 Founder Effect and New Mutations of SPG11 in French-Canadians Families, Inge Meijer, PhD
• IN2-1.003 Variable Phenotypic Expression of Rapid Onset Dystonia Parkinsonism in a Newly Discovered Italian Family with a T613M Mutation in the ATP1A3 Gene, Richard L. Barbano, MD, PhD
• IN2-1.004 Environmental Risk Factors and Quality of Life in Leber Hereditary Optic Neuropathy, Matthew A. Kirkman, BSc
• IN2-1.005 Neurological Relevance of the Intrathecal Specific Humoral Immune Response Analysis in Dengue Infection, Marzia Puccioni-Sohler, MD, PhD
• IN2-1.006 A large number of SACS mutations are responsible for ARSACS in the French-Canadian population, Isabelle Thiffault, BSc, MSc
• IN2-1.007 Two Novel CYP7B1 Mutations in Italian Families with Autosomal Recessive Spastic Paraplegia: A Clinical and Genetic Study, Chiara Criscuolo, MD
• IN2-1.008 A Novel Association of ATP-Binding Cassette Family gene (ABCB1) Among South Indian Patients with Epilepsy, Abhijit Das, MD
• IN2-1.009 Allelic Associations of ANG with Sporadic ALS in Irish and Swedish Patients, Julie Phukan, MB
• IN2-1.010 IFNβ-Pathway Gene Polymorphisms Influence Response to Multiple Sclerosis Treatment: A European Study, Nicolas Couturier, PhD

• IN2-2.001 Ongoing Genomewide Association in Familial Intracranial Aneurysm, Daniel L. Koller, PhD
• IN2-2.002 Toll-like Receptors Are Critical for Protection against West Nile Virus Infection, Amir H. Sabouri, MD, PhD
• IN2-2.003 Viral risk factors of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), Amir H. Sabouri, MD, PhD
• IN2-2.004 Parental Consanguinity is Associated with a Higher Incidence Rate of Progressive Encephalopathy: A Cohort Study, Petter Stromme, MD, PhD
• IN2-2.005 Epistasis among HLA-DRB1, HLA-DQA1 and HLA-DQB1 loci determines multiple sclerosis susceptibility, Matthew R. Lincoln, DPhil
• IN2-2.006 Phenotypic spectrum of Laing distal myopathy in four Spanish families with Lys1729del mutation, Nuria Muelas, MD