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Dystonia Research Group

The Research Challenge:

“Dystonia” refers to a number of different, relatively rare, neurological disorders. The most common form of dystonia is adult onset isolated focal dystonia (AOIFD) of which the most common type is cervical dystonia. As well as being a motor disorder there are significant non-motor symptoms, including anxiety and depression in AOIFD. There are, in Ireland, about 600 people with AOIFD. In St Vincent’s University Hospital we have a weekly clinic with about 400 people who attend every 3 months for botulinum toxin injections for their dystonia (mainly cervical dystonia). The cause(s) of AOIFD is/are completely unknown; a combination of genetic and environmental factors is considered relevant to its pathogenesis. The challenges are to find the causes, genetic and environmental, of AOIFD and provide better treatment.

What are we doing:

Cervical dystonia is probably inherited as an autosomal dominant disorder with markedly reduced penetrance (10–15%). It is considered that cervical dystonia is caused by a disorder of sensory motor processing in the basal ganglia and brainstem; disordered sensory motor processing through the superior colliculus appears critical.

Our main research priorities are:

  • To assess the sensory motor processing in the basal ganglia and brainstem in Cervical Dystonia patients
  • To explore factors relating to penetrance of the disorder and pathogenetic mechanisms
  • Using fMRI, investigate temporal discrimination thresholds in patients and unaffected relatives to identify any abnormalities associated with this disorder
  • To establish a DNA biobank of well-characterized samples from patients and their relatives to help in the discovery of genetic mutations underlying this disorder

Who we are:

  • Prof Michael Hutchinson – Consultant Neurologist
  • Dr Sean O’Riordan – Consultant Neurologist