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17. TWS-Symposium am 16. März 2018 im Rahmen des DGKN-Kongresses an der Freien Universität Berlin 

Hereditary Spastic Paraplegias and related disorders: Update on research concepts and on therapeutic strategies


Time Speaker (in alphabetical order) Title

Tom Wahlig

Rebecca Schüle

Welcome and introduction

9:10Matthis Synofzik (Universitätsklinikum Tübingen, GER)Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes and pathways
9:30Bernard Brais (University of Montréal, CAN) The molecular pathophysiology of ARSACS: when the cytoskeleton bundles
9:50Hélène Puccio (Illkirch, Institut de Génétique et de Biologie moléculaire et cellulaire, F)Mitochondrial recessive ataxias - from models to gene therapy approaches
10:10: Coffee break
10:30Rebecca Schüle Novel TWS funding project: Introduction in awardees
10:45Martin Regensburger (Friedrich-Alexander-Universität Erlangen, GER)Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia
11:00Rachel Allison (Cambridge Institute for Medical Researchs, U.K.)Investigating a novel phenotype of lyosomal dysfunction in spartin-HSP
11:15Molly Lettman (University of Wisconsin-Madison, USA)Therapeutic strategies to treating hereditary spastic paraplegias
11:30Hamid Azzedine (Universitätsklinikum RWTH AAchen, GER)

Preliminary data from NGS in consanguineous families with Spastic Paraplegia and related neuropathies



Evan Reid (Cambridge Institute for Medical Research, UK)

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia

12:10Giovanni Stevanin (Institut du Cerveau et de Moelle épinière, Paris, F)  CYP2U1 Knock-out partially mimics the spastic paraplegia 56 phenotype
12:30: Lunch break
13:45: guided poster session, Henry-Ford-building, Garystr. 35
15:00Markus Damme (Universität Kiel, GER) Aberrant axonal transport of Lyosomes in Disease
15:30Cahir O´Kane (University of Cambridge, U.K.) Architecture and continuity of axonal endoplasmic reticulum are compromised on loss of intramembrane hairpin-containing HSP proteins in Drosophila
16:00: Coffee break
16:30Julian Großkreutz (Universitätsklinikum Jena, GER) Progression of ALS: The clinical syndrome and the biomarker profile
17:00Rebecca Schüle (Universitätsklinikum Tübingen, GER) An HSP biomarker initiative
18:15: by bus to hotel (restaurant close by)
19:30: Awarding of poster prices and dinner