Deep Brain Stimulation as Management of Generalized Dystonia in the 18p Deletion Syndrome

Abstract

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Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome

“…2 Major improvement in functional independence and dystonia was also reported in an another 18p-syndrome patient with generalized dystonia, following bilateral GPi-DBS. 3 A mean reduction of 46.9% in the dystonia motor score (Burke-Fahn-Marsden Dystonia Rating Scale or Toronto Western Spasmodic Torticollis Rating Scale) was observed in GNAL mutation carriers, who underwent GPi-DBS surgery. 4 A sustained clinical response to GPi-DBS was noted in 4 of these patients (1 patient with cervical, 1 patient with segmental, and 2 patients with generalized dystonia) with follow-up duration up to 12-96 months.…”

“…Pallidal deep brain stimulation (globus pallidus pars interna [GPi]‐DBS) surgery was performed in 1 of the patients (patient 1), leading to an important improvement of dystonic symptoms . Major improvement in functional independence and dystonia was also reported in an another 18p‐ syndrome patient with generalized dystonia, following bilateral GPi‐DBS . A mean reduction of 46.9% in the dystonia motor score (Burke‐Fahn‐Marsden Dystonia Rating Scale or Toronto Western Spasmodic Torticollis Rating Scale) was observed in GNAL mutation carriers, who underwent GPi‐DBS surgery .…”

The Spectrum of Movement Disorders in 18‐p Deletion Syndrome

“…(https://onlinelibrary.wiley.com/doi/10.1002/mdc3.12729). 2 A 47-year-old woman had mild psychomotor retardation since birth. Head position had never been straightened, but it got worse in her 40s, when hands and head tremor also started.…”