The Spectrum of Movement Disorders in 18‐p Deletion Syndrome

Abstract

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

“…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. 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.…”

“…We thank Dr. Vela‐Desojo and colleagues for their interest in our report on movement disorders in the 18p deletion (18p‐) syndrome and for their contribution of 2 additional patients . The clinical features in these 2 patients show similarities with other 18p‐ syndrome patients suffering from dystonia, including the predominance of craniocervical dystonia, and the presence in 1 patient of jerky movements in the upper limbs and cervical region.…”

“…However, additional genetic, epigenetic, and environmental factors are probably also influencing the phenotype in 18p‐ patients. 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 .…”