2002 PND Medical Symposium

First Annual Symposium on Pediatric Neurotransmitter Diseases Annals of Neurology #160;Vol 54 Supplement 6 2003

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For session summaries click on the session links

Session I

Darryl C. De Vivo, MD- Chair

"Functional Aspects of GABA Neurotransmitter"
O.C. Snead, MD

"Biogenic Amines-Metabolism and Regulation"
Teodoro Bottliglieri, PhD

"GHB: A Potential Neurotransmitter in Mammalian CNS"
O.C Snead, MD

Session 1 summary [pdf]

Session II- Clinical Overview of PNDs

Andrea Gropman-Chair

"Aromatic L-Amino Acid Decarboxylase Deficiency"
Kathryn Swoboda , MD

" Tyrosine Hydroxylase Deficiency"
Georg F. Hoffmann, MD

"Segawa Disease (Dominantly Inherited GTP I Cyclohydrolase Deficiency)"
Darryl C. De Vivo, MD

"Succinc Semialdehyde Dehydrogenase (SSADH) Deficiency (4 Hydroxybutyric Aciduria) in Children and Adults"
Phillip Pearl, MD

Session 2 summary [pdf]

Session III- Diagnoses and Therapeutic Interventions for PND'

Keith Hyland, PhD- Chair

"The Clinicians's Approach to the Diagnosis of the Patient with a Suspected PND"
Georg F. Hoffmann, MD

"The Lumbar Puncture for Diagnosis of PNDs"
Keith Hyland , PhD

"Therapeutic Interventions for Disorders of Biogenic Amine Metabolism"
Blair Ford, MD

"Vigabatrin and Newer Interventions in SSADH Deficiency"
Andrea Gropman, MD

Summary Discussion -"Strategy Planning for Implementation of Goals and Objectives of the PND Association
Chaired by the Scientific Organization Committee and Invited Speakers

Session 3 summary [pdf]

Session IV- Animal Models of PND's

Kathryn Swoboda, MD-Chair

"Animal Models of Catecholamine Defects"
Marc Caron, MD

"New Therapeutic Insights form a Murine Model of SSADH Deficiency"
K. Michael Gibson, PhD

"The hph- mouse , A Model of GTP I Cyclohydrolase Deficiency"
Keith Hyland, PhD

Session 4 summary [pdf]

Session V- Future Directions for Research and Treatment of PNDs

Georg Hoffmann, MD- Chair

"The Potential Role of Hepatocyte Repopulation in Treating PNDs"
Markus Grompe MD

"Genetic Modification of Human Neuronal Stem Cells"Implications for Brain Repair"
Clive Svendsen, PhD

Summary Discussion- "What are the Future Objectives of the PND Association and How Do We Coordinate to Achieve Our Goals"
Chaired by the Scientific Organizing Committee and Invited Speakers

Session 5 summary [pdf]

K. Michael Gibson, PhD - Symposium Summary