There’s no cure for dystonia, but the condition can usually be effectively managed.
As a result of their research, which has been published in the journal Human Molecular Genetics, the effect of the disease-causing mutations in hippocalcin on its physiological function have now been characterised.
Dr Nordine Helassa said: “We can now understand for the first time how these mutations would have important physiological consequences that would lead to abnormalities in neuronal function. Excessive neuronal activation that could result in aberrant signalling in the brain of affected individuals.”
Potential new treatment
Source: Simon Wood – University of Liverpool
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