Abstract:
BACKGROUND : Childhood-onset generalised dystonia is commonly caused by TOR1A mutations and is known to respond well to pallidal
deep-brain stimulation (DBS) surgery. The incidence and prevalence of monogenic dystonia in individuals from Africa and specifically of
African ancestry are unknown, and no local cases of TOR1A mutation dystonia are found in the literature.
OBJECTIVES : To describe our experience with the outcome of TOR1A mutation-positive patients with isolated generalised dystonia (IGD) of
childhood onset who were treated with pallidal DBS.
METHODS : All patients with TOR1A mutations from Steve Biko Academic Hospital and the Pretoria Neurology Institute in Pretoria, South
Africa (SA), who underwent DBS for IGD of childhood onset were identified. We conducted a retrospective analysis of their demographics,
clinical presentation and time to generalisation, genetic status and family history, and response to DBS treatment of the internal segment of
the globus pallidus (GPi), utilising pre- and post-surgical scores of the United Dystonia Rating Scale (UDRS).
Results. Three patients, all of black African ancestry, were identified. The median age at onset was 12 years and the median time to surgery
from dystonia generalisation was 3 years. Two children presented with cervical-onset dystonia. Two patients were related, representing the
only two with a positive family history. All three patients had a positive outcome after surgery, with improvement of 67 - 90% on the UDRS
recorded at last follow-up.
CONCLUSION : TOR1A mutations are found in SA patients of black African ancestry, with age of onset and generalisation comparable to
those described in international studies. However, onset with cervical dystonia was more common than previously reported. Response to
GPi DBS was excellent in all patients.
