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IN23-TU-02 Interventional therapy for epilepsy
S20
19th World Congress of Neurology, Invited Abstracts / Journal of the Neurological Sciences 285 S1 (2009) S5–S56
physicians, emergency medical service team, stroke unit personnel, professional societies, policy makers and the health care funding agencies are the key to success. IN22-TU-03 Stroke units – how to organize stroke care services M. Brainin. Center Clinical Neurosciences, Danube University, Krems, Austria A stroke unit is hospital department that provides organized care exclusively for patients suffering from stroke. This is characterized by coordinated multidisciplinary care directed at emergency handling of stroke patients, performing prompt clinical and imaging diagnosis and providing available therapy immediately. Continuous monitoring, preventing complications, treating comorbidity, and early mobilisation are crucial components. Preclinical efforts are directed at shortening admission times and avoiding in-hospital delays. Several such stroke units have been recommended in international guidelines which include in a step down fashion comprehensive (tertiary care) stroke units, stroke units with basic care, and general hospital care using stroke pathways. While not all these components have been tested in randomized trials it has been widely accepted that such care systems are very effective and many stroke registries show the extremely good performances in terms of effectiveness and reaching best possible outcomes. In Austria, for example, a system of such acute care units has been established which has transport times mostly under 45 minutes and a thrombolysis rate, which has improved between 2003 to 2008 from 4 to 13% of all admissions. The percentage of eligible thrombolysis patients reaching stroke units within 2 hours of stroke onset has now reached a thrombolysis rate of more than 50%. Systematic care for acute stroke can be established by means of acute stroke units directed at avoiding in-hospital delays and offering best possible acute therapy, preventing complications and early mobilisation.
IN23 – Child neurology 1 IN23-TU-01 Myopathy: update in diagnosis and treatment – focusing on metabolic myopathies I. Nishino. Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan Among various muscle diseases, metabolic myopathies are probably one of the most important topics as many of these conditions are treatable. I will discuss metabolic myopathies and focus on Pompe disease and lipid dysmetabolism. Pompe disease is the only hereditary muscle disease for which curative treatment is available, as enzyme replacement therapy (ERT) has recently become available. Pompe disease can be classified into three forms: infantile, childhood and adult-onset. Patients with infantile form present with muscle hypotonia and hypertrophic cardiomyopathy. Most patients die within 1 year after birth without treatment, but with ERT, survival rate has been significantly improved. Muscle pathology shows marked vacuolar changes with glycogen accumulation and high acid phosphatase activity. The childhood and adult-onset forms are relatively milder, whereby patients exhibit limb-girdle muscle weakness and atrophy but usually do not show cardiomyopathy. In adult-onset cases the findings in muscle pathology can sometimes be minimal, thus many cases are probably overlooked. There are two major myopathic conditions due to lipid dysmetabolism. One condition is rhabdomyolysis. Determining the cause of rhabdomyolysis is often not easy as clinical and pathological features are usually nonspecific. Of note, however, very-long-chain-acyl-CoA dehydrogenase (VLCAD) deficiency, which is probably the most common b-oxidation defect,
may be diagnosed by immunohistochemistry. The other myopathy due to lipid dysmetabolism is lipid storage myopathy, a condition diagnosed by its characteristic finding on muscle pathology. In our study, 3/4 of cases had no mutations in any of known causative genes, indicating that cause is still unknown in majority of cases. Nevertheless, treatment is available for carnitine deficiency and some cases of multiple acyl-CoA dehydrogenase deficiency, thus knowledge about these genetically identifiable and potentially treatable diseases are of relevance. IN23-TU-02 Interventional therapy for epilepsy A. Ikeda. Departments of Brain Pathophysiology and Neurology, Kyoto University School of Medicine, Kyoto, Japan IN23-TU-03 Genes and pathways implicated in malformations of cortical development H. Cross. Neurosciences Unit, UCL Institute of Child Health, London, United Kingdom
IN24 – Multiple sclerosis 2 IN24-TU-01 Immunological and neurobiological interactions in multiple sclerosis R. Hohlfeld. Ludwig Maximilians University of Munich, Munich, Germany Multiple Sclerosis (MS) is the most frequently occurring inflammatory disease of the central nervous system. Autoimmune T and B cell responses to CNS antigen(s) are thought to drive the pathogenesis of the disease. New techniques have allowed precise quantitative analysis of the antigen-receptor repertoire of tissue-infiltrating T and B cells. Novel candidate auto-antigens, including B-cell antigens, have been identified. Several promising immunological “biomarkers” with possible prognostic, diagnostic and therapeutic relevance have recently been described. One of these markers, antibody against aquaporin-4, has been suggested as a marker for a subtype of MS characterized by optico-spinal involvement. Much progress has also been made in understanding the milieu factors that make the CNS a very special and conducive environment for interactions between cells of the immune system and nervous system. Chemokines guide the migration of immune cells into MS lesions, and survival factors such as BAFF foster the long-term persistence of certain types of immune cells in the CNS environment. Intriguingly, tissue-infiltrating immune cells secrete neurotrophic factors, which might support the survival of some neuronal and glial cells. Altogether, these discoveries have shed new light on the immuno-pathogenesis of MS, and will make a strong impact on the development of novel therapies for this still incurable disease. IN24-TU-02 Aquaporin-4 autoimmunity T. Misu. Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan Recently, the disease-specific antibody was found in the serum from neuromyelitis optica (NMO) patients, and its target antigen was identified as aquaporin-4 (AQP4), mainly expressed in astroglial foot processes. However, the pathogenic role of AQP4 antibody in NMO has not been fully elucidated. In our immunohistochemical studies, the loss of AQP4 was evident in about 90% of NMO lesions, especially in perivascular areas of acute inflammatory lesions where immunoglobulins and complements were deposited, and glial fibrillary acidic protein (GFAP) was also weak or lost in
19th World Congress of Neurology, Invited Abstracts / Journal of the Neurological Sciences 285 S1 (2009) S5–S56
physicians, emergency medical service team, stroke unit personnel, professional societies, policy makers and the health care funding agencies are the key to success. IN22-TU-03 Stroke units – how to organize stroke care services M. Brainin. Center Clinical Neurosciences, Danube University, Krems, Austria A stroke unit is hospital department that provides organized care exclusively for patients suffering from stroke. This is characterized by coordinated multidisciplinary care directed at emergency handling of stroke patients, performing prompt clinical and imaging diagnosis and providing available therapy immediately. Continuous monitoring, preventing complications, treating comorbidity, and early mobilisation are crucial components. Preclinical efforts are directed at shortening admission times and avoiding in-hospital delays. Several such stroke units have been recommended in international guidelines which include in a step down fashion comprehensive (tertiary care) stroke units, stroke units with basic care, and general hospital care using stroke pathways. While not all these components have been tested in randomized trials it has been widely accepted that such care systems are very effective and many stroke registries show the extremely good performances in terms of effectiveness and reaching best possible outcomes. In Austria, for example, a system of such acute care units has been established which has transport times mostly under 45 minutes and a thrombolysis rate, which has improved between 2003 to 2008 from 4 to 13% of all admissions. The percentage of eligible thrombolysis patients reaching stroke units within 2 hours of stroke onset has now reached a thrombolysis rate of more than 50%. Systematic care for acute stroke can be established by means of acute stroke units directed at avoiding in-hospital delays and offering best possible acute therapy, preventing complications and early mobilisation.
IN23 – Child neurology 1 IN23-TU-01 Myopathy: update in diagnosis and treatment – focusing on metabolic myopathies I. Nishino. Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan Among various muscle diseases, metabolic myopathies are probably one of the most important topics as many of these conditions are treatable. I will discuss metabolic myopathies and focus on Pompe disease and lipid dysmetabolism. Pompe disease is the only hereditary muscle disease for which curative treatment is available, as enzyme replacement therapy (ERT) has recently become available. Pompe disease can be classified into three forms: infantile, childhood and adult-onset. Patients with infantile form present with muscle hypotonia and hypertrophic cardiomyopathy. Most patients die within 1 year after birth without treatment, but with ERT, survival rate has been significantly improved. Muscle pathology shows marked vacuolar changes with glycogen accumulation and high acid phosphatase activity. The childhood and adult-onset forms are relatively milder, whereby patients exhibit limb-girdle muscle weakness and atrophy but usually do not show cardiomyopathy. In adult-onset cases the findings in muscle pathology can sometimes be minimal, thus many cases are probably overlooked. There are two major myopathic conditions due to lipid dysmetabolism. One condition is rhabdomyolysis. Determining the cause of rhabdomyolysis is often not easy as clinical and pathological features are usually nonspecific. Of note, however, very-long-chain-acyl-CoA dehydrogenase (VLCAD) deficiency, which is probably the most common b-oxidation defect,
may be diagnosed by immunohistochemistry. The other myopathy due to lipid dysmetabolism is lipid storage myopathy, a condition diagnosed by its characteristic finding on muscle pathology. In our study, 3/4 of cases had no mutations in any of known causative genes, indicating that cause is still unknown in majority of cases. Nevertheless, treatment is available for carnitine deficiency and some cases of multiple acyl-CoA dehydrogenase deficiency, thus knowledge about these genetically identifiable and potentially treatable diseases are of relevance. IN23-TU-02 Interventional therapy for epilepsy A. Ikeda. Departments of Brain Pathophysiology and Neurology, Kyoto University School of Medicine, Kyoto, Japan IN23-TU-03 Genes and pathways implicated in malformations of cortical development H. Cross. Neurosciences Unit, UCL Institute of Child Health, London, United Kingdom
IN24 – Multiple sclerosis 2 IN24-TU-01 Immunological and neurobiological interactions in multiple sclerosis R. Hohlfeld. Ludwig Maximilians University of Munich, Munich, Germany Multiple Sclerosis (MS) is the most frequently occurring inflammatory disease of the central nervous system. Autoimmune T and B cell responses to CNS antigen(s) are thought to drive the pathogenesis of the disease. New techniques have allowed precise quantitative analysis of the antigen-receptor repertoire of tissue-infiltrating T and B cells. Novel candidate auto-antigens, including B-cell antigens, have been identified. Several promising immunological “biomarkers” with possible prognostic, diagnostic and therapeutic relevance have recently been described. One of these markers, antibody against aquaporin-4, has been suggested as a marker for a subtype of MS characterized by optico-spinal involvement. Much progress has also been made in understanding the milieu factors that make the CNS a very special and conducive environment for interactions between cells of the immune system and nervous system. Chemokines guide the migration of immune cells into MS lesions, and survival factors such as BAFF foster the long-term persistence of certain types of immune cells in the CNS environment. Intriguingly, tissue-infiltrating immune cells secrete neurotrophic factors, which might support the survival of some neuronal and glial cells. Altogether, these discoveries have shed new light on the immuno-pathogenesis of MS, and will make a strong impact on the development of novel therapies for this still incurable disease. IN24-TU-02 Aquaporin-4 autoimmunity T. Misu. Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan Recently, the disease-specific antibody was found in the serum from neuromyelitis optica (NMO) patients, and its target antigen was identified as aquaporin-4 (AQP4), mainly expressed in astroglial foot processes. However, the pathogenic role of AQP4 antibody in NMO has not been fully elucidated. In our immunohistochemical studies, the loss of AQP4 was evident in about 90% of NMO lesions, especially in perivascular areas of acute inflammatory lesions where immunoglobulins and complements were deposited, and glial fibrillary acidic protein (GFAP) was also weak or lost in