Saturday Educational Course Speakers

Educational Course Speakers
22 June, 2019


Roy Freeman, MBChB, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, United States
Title:  The Autonomic Nervous System - A Case-based Approach to Functional Neuroanatomy

 


Autonomic nerve fibers are small, lightly myelinated and unmyelinated and are injured to a varying degree in most symmetrical generalized, peripheral neuropathies. While this injury is often mild or subclinical, there are a group of peripheral neuropathies in which the small or unmyelinated fibres are selectively or prominently targeted. These include the autonomic neuropathies associated with diabetes and amyloid; immune-mediated autonomic neuropathies including those associated with a paraneoplastic syndrome; inherited autonomic neuropathies; autonomic neuropathies associated with infectious diseases and toxic autonomic neuropathies. In some peripheral neuropathies, the autonomic features are the most prominent manifestation of the neuropathy, while, in others, autonomic manifestations may be less prominent compared to the sensory or motor manifestations. This lecture will adopt a case-based approach to illustrate the functional anatomy and physiology of the autonomic nervous system.


Marina Kennerson, PhD, ANZAC Research Institute, Sydney, Australia
Title:  A Primer on WES, GWAS and WGS as Tools for Unravelling the Genetics of Inherited Neuropathies

 


Identifying new genes for inherited peripheral neuropathies (IPN) has flourished since the introduction of next generation sequencing with over 85 causative genes for CMT and related disorders reported to date. Despite this success up to 40% of families remain genetically undiagnosed. Are more genes to be identified? Can we target genes explaining the variability of the IPN phenotypes? Do non-coding mutations contribute to the unsolved IPN families? This presentation will give a primer on high throughput genomics (array genotyping, whole exome/genome sequencing) and their use with traditional gene mapping methods (positional cloning and genome wide association studies; GWAS) to further understand the genetics of IPNs. The principles of Mendelian WES variant filtering, GWAS studies to identify modifier genes and WGS analysis to identify structural variation mutations will be outlined along with the respective strengths and challenges of these approaches.

 


Simonetta Gerevini, MD, IRCCS San Raffaele Hospital, Milano, Italy 
Title:  Imaging of PNS

 



 


Magnetic resonance imaging provides a useful tool that can be used in the diagnosis of peripheral nerve disorders. The lecture will cover what aspects can be visualized with MR imaging and describe the relationship of signal alteration and morphologic modification of nerves and muscles to disorders of the peripheral nervous system.  Examples of techniques and findings in inflammatory neuropathies, genetic neuropathies and pudendal neuropathy will be provided.     

 


Steven Scherer, MD, PhD, The University of Pennsylvania,  Philadelphia, United States
Title: Mammalian Models of Neuropathy - When and How to Use Them

           

This lecture will review animal models of neuropathy. Animals have been key for illuminating the basic biology of nerves and the pathogenesis of many kinds of neuropathies (both genetic and acquired), as well as evaluating new treatments for neuropathy. Rodents (mice and rats) have been the main models, and provide robust models of nerve injury, as well as toxic, diabetic, inflammatory, and genetic neuropathies, and as a platform for testing therapies. The ability to image living zebrafish larvae has provided insights into axonal degeneration and regeneration, and also to model toxic and genetic neuropathies. Drosophila and C. elegans have been used as models of genetic and acquired axonal neuropathies, as well as to screen for genes that play essential roles in axonal degeneration.


Michael Lunn, FRCP, PhD, National Hospital for Neurology, Queen Square, London, United Kingdom
Title: Emerging Therapies in Autoimmune Neuropathy - Beyond IVIg

   

The autoimmune neuropathies are a diverse group of conditions. The pathogenesis of these conditions, which is varied and complex, is becoming better understood. Steroids, PLEx and IVIg, remain the backbone of treatment for these disorders.  The primary conductor for an orchestra of immunological instruments varies from disease to disease. The ability to tailor treatment to interfere with the major players will help us to reduce the burden of disability and reduce adverse effects. Treatments being made available for our use, often harvested from other specialties, are becoming useful in treating disease more specifically.  Anti-CD20 drugs might be useful in antibody-mediated disease, especially those with IgG4 antibodies. Where rituximab fails, tyrosine kinase and proteasome inhibitors may be important in depleting the B-cell lineage. In T-cell mediated disease drugs from MS might be helpful, and complement inhibition has shown promise, and immunomodulation in cytokine-driven disease can effect a long term remission.   This lecture will briefly cover all of these concepts and emphasize the need for collaborative and well-designed trials to prove or disprove efficacy.


Umapathi Thirugnanam, MBBS, MRCP, National Neuroscience Institute, Singapore
Title: Neuropathy in Resource Limited Settings, What and How to Investigate

   

The earth is neither flat nor round, but rather a pyramid with an apex occupied by the top 10%. At the base are 4 billion people making <8 USD/day. Business, economies and, by extrapolation, medical activities largely cater to the upper sections of the pyramid. The circumstances at the bottom are unique; and the strategies employed in the apex seldom work for the base. Using illustrative cases, this lecture will present disruptive innovations to improve diagnosis and management of peripheral neuropathy at the base of the pyramid.   “These unhappy times call for the building of plans that rest upon the forgotten, ……, that put faith once more in the forgotten man at the bottom of the economic pyramid” --- Franklin D Roosevelt.