The Foundation is pleased to announce that it will fund the research of Dr. Paola Giunti (ULC Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK) under its current research funding program. Her work entitled “Design and Validation of a Custom Amplicon Panel for the Diagnosis of Spastic ARSACS and other ataxias” should contribute to diagnose ARSACS more efficiently and at lower cost. Following is a summary of the her research project.

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.