TorsinA mediated dystonia, functional analysis and molecular models

Funded Activity Summary

The dystonias represent a group of movement disorders characterised by sustained muscle contraction, resulting in twisting and abnormal postures. Current treatment regimes may provide some measure of symptomatic relief, but are often unsatisfactory and limited by adverse side effects. The prevalence of dystonia is estimated at approximately 300 cases per million population. Dystonia is a complex disorder, the causes and disease mechanisms are not well understood. However, in the past 10 years several genes have been identified that can cause dystonia. The overall aim of this proposal is to characterise a gene that causes dystonia when disrupted. Understanding the function of this gene may significantly advance our understanding of this disorder. Using these results, we aim to model dystonia in cellular and animal systems; these may provide powerful insight into the molecular pathway(s) perturbed in dystonia and a means to develop novel therapeutic approaches to alleviate or prevent the disorder.

Funded Activity Details

Start Date: 01-01-2007

End Date: 01-01-2009

Funding Scheme: NHMRC Project Grants

Funding Amount: $479,817.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Central Nervous System

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

animal model | catecholamine synthesis | dystonia | molecular mechanisms | molecular neuroscience | movement disorder | neurological disease | protein-protein interaction

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