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Thursday May 08 2014
Abstracts selected for presentation will be available online by April 15, 2014
PLENARY SESSIONS
08:00-09:00 PL07 Fetal Neurology: An emerging subspeciality? Adré Jacques du Plessis, USA
09:00-10:00 PL08 Brain injury in the newborn - Importance of the everyday (Prichard Award Lecture) Steven Paul Miller, Canada
10:00-10:30 COFFEE & POSTER VIEWING / TRADE EXHIBITION
CONCURRENT SYMPOSIA
CATARATAS I
10:30-12:30 S13 Frontiers in Neuroprotection of the neonatal brain 
  Chair: Rand Askalan (Canada)
Neuroprotection of the neonatal brain Rand Askalan, Canada
Lessons learned from the adult brain on the translation of preconditioning against ischemic injury Mary Stenzel-Poore, USA
Hypothermia and potential strategies to maximize its utility in protecting the developing ischemic brain Michael Johnston, USA
Promising strategies of neuroprotection for the developing brain Jerome Yager
CATARATAS II
10:30-12:30 S14 Acute Leukoencephalopathies in Children 
  Chair: Andrew Kornberg (Australia) ; Silva Tenembaum (Argentina)
 Acute event with bithalamic involvement  Andrew Kornberg, Australia
 Acute leukoencephalopathy and CNS vasculopathy  Silvia Tenembaum, Argentina
 Acute leukoencephalopathy and Pediatric Multiple Sclerosis Lauren Krupp, USA
 Acute leukoencephalopathy and Neuromyelitis Optica Daniela Pohl, Canada
IGUAÇU I
10:30-12:30 S15 NeuroInflammation
  Chair: Russel Dale (Australia)
Overview of CNS inflammation: mechanisms and interventions Ming Lim, UK
Neuroinflammation and Neuroimmune Interaction. Inflammatory component in the pathogenesis of Autism Spectrum Disorders Andrew Zimmerman, USA
The Role of Neuroinflammation in the Encephalopathy of Prematurity Bobbi Fleiss, UK
Inflammation in the Neuronal Ceroid Lipofusinoses (NCL) Jonathan Mink, USA
IGUAÇU II   
10:30-12:30 S16 Update on Neuromuscular Disorders
  Chair: Rosalin Quinlivan (UK)
Hazardous Neuromuscular disorders - The malignant hyperthermia story and RYR1 mutations - Implications to practics Heinz Jungbluth, UK
Hazardous Neuromuscular disorders - More metabolic / hazardous neuromuscular diseases ie rhabdomyolysis Rosalin Quinlivan, UK
Latest in therapies for key neuromuscular disorders Carsten Bonneman, USA
Standards of care for SMA and DMD Jo Wilmshurst, South Africa
Neuromuscular and neurodevelopmental disorders associated with defective autophagy Heinz Jungbluth, UK
12:30-14:00 LUNCH / TRADE EXHIBITION / LUNCH TIME MEETINGS
13:00-14:00 ACNA EXECUTIVE BOARD MEETING (CLOSED SESSION)
PLATFORM SESSIONS
IGUAÇU 1
14:00-17:00 NEONATAL & FETAL NEUROLOGY
  Chair: TBA
0200 - 0215 PM FP100: Rotavirus infection can cause seizures accompanied by diffuse cerebral white matter injury in full-term newborns Kyung Yeon Lee, Korea.Republic
0215 - 0230 PM FP101: Burden of neurologic disease in a peruvian neonatal intensive care unit Pilar Medina, Peru
0230 - 0245 PM FP102: Experience with induced hypothermia at a tertiary hospital in a resource limited setting: preliminary results Firdose Nakwa, South Africa
0245 - 0300 PM FP103: Fetal ventriculomegaly investigations and outcomes - 5 year experience Prakash Satodia, UK
0300 - 0315 PM FP104: Fetal MR Imaging. What is the outcome? Prakash Satodia, UK
0315 - 0330 PM FP105: Emergence and evolution of neurological deficits following acute neonatal arterial ischemic stroke Mahendranath Moharir, Canada
0330 - 0345 PM FP106: Levetiracetam as a treatment of neonatal seizures Hyoung Won Choi, USA
0345 - 0400 PM FP107: A Neonatal Seizure Blinded Treatment Trial Richard Haas, USA
0400- 0415 PM FP108: Toward Prenatal diagnosis of Prader Willi Syndrome Varda Gross-tsur, Israel
0415 - 0430 PM FP109: The neurological development of newborns at high risk through outpatient services by multidisciplinary team Alexandra Serafim, Brazil
0430 - 0445 PM FP110: Altered expression of non-neuronal cells in normal and Down syndrome developing brain Takeshi Kanaumi, Japan
0445- 0500 PM FP111: Transcription Regulation of Thyroxin Protective Effect on White Matter Injury Hung Pi-lien, Taiwan
IGUAÇU II  
14:00-17:00 NEUROONCOLOGY / NEURORADIOLOGY
  Chair: TBA
0200 - 0215 PM FP112: Everolimus for subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): EXIST-1 long-term efficacy and safety results David Franz, USA
0215 - 0230 PM FP113: Safety of everolimus in patients Sergiusz Jozwiak, Poland
0230 - 0245 PM FP114: Posterior fossa syndrome and mutism in children after cerebellar tumor surgery Maria Buompadre, Argentina
0245 - 0300 PM FP115: Gliomatosis Ceribri in childhood - case report Rudimar dos Santos Riesgo, Brazil
0300 - 0315 PM FP116: Serum alpha-tocopherol, vitamin B12 and folate levels in Childhood ALL (Acute Lymphoblastic Leukemia) survivors with and without neuropathy Puneet Jain, India
0315 - 0330 PM FP117: Spectrum of Neurological Complications in Childhood Malignancies-A Study from India Lokesh Lingappa, India
0330 - 0345 PM FP118: White Matter Microstructural Integrity in Syndromic and Idiopathic Autism Fiona Baumer, USA
0345 - 0400 PM FP119: Microstructural abnormalities of the supratentorial white matter tracts on brain MRI in X-Linked MCT8 deficiency: Implications for earlier diagnosis and treatments Maia Gisele Matheus, USA
0400- 0415 PM FP120: Atypical Case of a HSV-1 Meningoencephalitis (HSE) Involving Corpus Striatum Nezir Özgün, Turkey
0415 - 0430 PM FP121: Novel findings with susceptibility weighted imaging in acute-stage paediatric convulsive disorders Hiroki Iwasaki, Australia
0430 - 0445 PM FP122: Conventional magnetic resonance imaging in the differentiation between high and low-grade brain tumours in paediatric patients Luciana Porto, Germany
0445- 0500 PM FP123: valuation of the nerve conduction studies and autonomic functions in patients with agenesis of corpus callosum Erhan Bayram, Turkey
CATARATAS I
14:00-17:15 METABOLIC DISORDERS
  Chair: TBA
0200 - 0215 PM FP124: Insights into therapeutic mechanisms of L-arginine therapy in MELAS syndrome using exercise testing with cycle ergometry and 31P-MRS of muscle Lance Rodan, Canada
0215 - 0230 PM FP125: Methylmalonic acidemia: diagnosis and long-term outcome Juliana Pinheiro, Brazil
0230 - 0245 PM FP126: Subacute combined sclerosis of the spinal cord and necrotizing enterocolitis after ileal resection: a forgotten link Gustavo Holanda, Brazil
0245 - 0300 PM FP127: Coenzyme q10 deficiency: clinical and biochemical characterization Juliana Arita, Brazil
0300 - 0315 PM FP128: MELAS syndrome is associated with impaired cerebrovascular reactivity and cerebral hyperperfusion in between stroke-like episodes Lance Rodan, Canada
0315 - 0330 PM FP129: White matter disorders in a series of 150 patients with metabolic disease Mónica Troncoso, Chile
0330 - 0345 PM FP130: Mitochondrial dna disease: clinical spectrum from the genotype to the phenotype Paola Santander, Chile
0345 - 0400 PM FP131: Glutaric aciduria type i (ga1), clinical caracterization and genetic study of 11 chilean children. Mónica Troncoso, Chile
0400- 0415 PM FP132: Congenital metabolism diseases of neurotransmitters in pediatric neurology: clinical description and neurological tracing of a group of patients. Mónica Troncoso, Chile
0415 - 0430 PM FP133: Clinical profile of children with biotinidase deficiency and response to oral biotin therapy: Experience from a developing country Arushi Saini, India
0430 - 0445 PM FP134: Abnormal Pupillary Light Reflex with Chromatic Pupillometry in Gaucher disease; relation to phenotype and therapeutic response with chaperone therapy Aya Narita, Japan
0445- 0500 PM FP135: 2-HydroxyGlutaric Aciduria in Saudi Arabia Majed Dasouki, Saudi Arabia
0500-0515 PM FP136: Mitochondrial Molecular Genetic Mutations found in a South African population 1992-2012 Gillian Riordan, South Africa
CATARATAS II
14:00-17:00 MUSCLE & NERVE
  Chair: TBA
0200 - 0215 PM FP137: Skin biopsy in childhood muscular dystrophies; is it the way ahead for diagnosis, monitoring and prognosis? Vrajesh Udani, India
0215 - 0230 PM FP138: Clinical aspects of a treatable form of childhood peripheral neuropathy due to riboflavin transporter deficiency caused by mutations of the SLC52A2 gene Robert Ouvrier, Australia
0230 - 0245 PM FP139: Enterovirus 71 associated lower motor neuron disease in infants and children Tejaswi Kandula, Australia
0245 - 0300 PM FP140: Bone health in Duchenne muscular dystrophy: natural history, pathogenesis and treatment Hugo Sampaio, Australia
0300 - 0315 PM FP141: Spinal Muscular Atrophy life span Alexandra Prufer de Q. C. Araujo, Brazil
0315 - 0330 PM FP142: Peripheral nerve ultrasound in paediatric Charcot-Marie-Tooth disease Type 1A Eppie Yiu, Australia
0330 - 0345 PM FP143: Schwartz Jampel Syndrome: Two cases report Joao Tussolini, Brazil
0345 - 0400 PM FP144: Serum miR-206 and other muscle-specific microRNAs as non-invasive biomarkers for Duchenne muscular dystrophy Li Jiang, China
0400- 0415 PM FP145: Prevalence of electrophysiologically defined peripheral neuropathy in children with chronic kidney disease stage IV and V: a cross sectional study Sangeetha Yoganathan, India
0415 - 0430 PM FP146: Phenotype - genotype analysis of Chinese patients with early-onset LMNA-related muscular dystrophy Hui Xiong, China
0430 - 0445 PM FP147: Sibling-pair with Mitofusin 2 mutation Siddharth Jain, UK
0445- 0500 PM FP148: Reliability of the ek scale versus hand grip dynamometer testing in non-ambulant duchenne muscular dystrophy patients Stacey Tay, Singapore

 

Inflammation in the Neuronal Ceroid Lipofusinoses (NCL)

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