“The use of KO and KI mice, a human fibroblast model and Sacs mini-gene in the search of a treatment for ARSACS”
– Dr. Bernard Brais Co-director of the neuromuscular group of the Montreal Neurological Institute and Hospital.

“Role of neurofilaments and mitochondria in the pathogenic cascade of ARSACS: Relevant biomarkers for therapeutic development”
– Dr.Heather Durham, McGill Department of Neurology

“Modelling ARSACS using induced pluripotent stem cell derived neurons with isogenic controls”
– Dr. Paul Chapple.

“New emerging team on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): from models to treatment strategies”
– Dr.Cynthia Gagnon.

“A randomised delayed entry trial of intensive home-based speech therapy in ARSACS”
– Matthis Synofzik.

Given its successful ethics IRB application, the research team can now perform systematic dysphagia studies in ARSACS.They have translated,implemented and validated the first dysarthria and dysphagia scores. They will start in March with the first piloting patients with the speech treatment program in Friedreich patients and later with ARSACS patients. In parallel,the research team will start the systematic speech and dysphagia characterization in ARSACS.

Contact: Dr. Matthis Synofzik, M.A.,Centre for Neurology andHertie-Institute for Clinical Brain Research, Hoppe-Seyler-Str. 3, D-72076 Tübingen
Tel: 07071/29-82060 * Email: matthis.synofzik@uni-tuebingen.de * web: http://www.hih-tuebingen.de/klinische-neurogenetik/mitarbeiter/

“Design and Validation of a Custom Amplicon Panel for the Diagnosis of Spastic ARSACS and other ataxias”
– Dr. Paola Giunti, ULC Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

Dr. Giunti’s project should contribute to diagnose ARSACS more efficiently and at lower cost. ARSACS has been described in Europe, North Africa, Turkey, Japan and Brazil. To date genetic testing to identify ARSACS patients remains expensive, time-consuming and consequently only available in specialist or research centres in the UK. There is therefore a pressing need for a quicker, cheaper and more available diagnostic test.

Dr. Giunti and other groups have shown that the retinal nerve fibre layer (RNFL) as measured by optical coherence tomography (OCT) is thickened in ARSACS, in contrast to most other neurodegenerative diseases in which the RNFL is normal or thinned. Her project is to develop a custom amplicon panel for spastic ataxias that will allow the diagnosis of ARSACS and to be used in the more general diagnosis of cases of spastic ataxia. It is planned that, if successful in this validation, it should enter routine use in the Neurogenetics Laboratory of the UCL/UCLH. She will then use the above panel to assess a cohort of patients with ataxia who have already undergone OCT scanning. This will allow her team to assess the sensitivity and specificity of OCT in diagnosing ARSACS.

Contact: Dr. Paola Giunti, Principal Clinical Research Associate,Honorary Consultant, Department of Molecular Neuroscience,UCL, Institute of Neurology,National Hospital for Neurology and Neurosurgery, Queen Square,London WC1N 3 BG,UK
Tel: +44 845 155 5000 sec. ext 723100 dir. ext 723153 * Fax: +44 207 2785616 * Email: p.giunti@ucl.ac.uk