GNAO1 related movement disorders: 2 longitudinally-followed cases
Objective: To describe the clinical course, phenomenology, and treatment response in two patients with GNAO1 related movement disorders. Background: Since the initial report of 4…A new mutation in the C-terminal domain of the YY1 gene associated with Gabriele-de Vries syndrome.
Objective: To report a new mutation in the YY1 gene in a patient with Gabriele-de Vries syndrome, in which dystonia and choreoathetosis were the most…Deep Brain Stimulation for Dystonia: A Single-center Experience
Objective: To report on deep brain stimulation (DBS) outcomes in dystonia and related movement disorders at Mass General Brigham (MGB) hospitals. Background: Dystonia is a…Combined dystonia in a patient carrying a novel ATL1 gene variant.
Objective: To describe a patient with a childhood-onset combined dystonia who was found to be a carrier of a novel mutation in the ATL1 gene.…Successful bilateral pallidal stimulation in a young adult with DYT-27: A case report
Objective: We present a 21 year old woman with DYT-27 dystonia who received bilateral pallidal deep brain stimulation. Background: Dystonia is a neurological disorder characterized…Molecular changes of a de novo missense variant in VPS16 in dystonia
Objective: To present an early-onset dystonia patient with a de novo VPS16 missense variant, along with molecular characterization. Background: Mutations of the adaptor protein vacuolar…Pallidal Stimulation in children with monogenic dystonia
Objective: To evaluate the efficacy and safety of Globus Pallidus Internus deep brain stimulation (GPi-DBS) in children with different forms of monogenic dystonia operated by…GPi-DBS for KMT2B-associated dystonia: systematic review and meta-analysis
Objective: To determine the efficacy of pallidal stimulation and GPi-DBS in KMT2B-associated dystonia. Background: Early evidence suggests good response to pallidal stimulation in KMT2B dystonia,…Deep Brain Stimulation in Confirmed Genetic Dystonias: A Comprehensive Review
Objective: Review DBS benefit in genetically confirmed dystonias. Background: Deep brain stimulation (DBS) is an established option for genetic dystonias such as DYT-1. While literature…Whole genome sequencing aids in diagnosing GCH1 dopa responsive dystonia in two Peruvian patients and influences medical management
Objective: To describe the clinical features and treatment response of two Peruvian patients with GHC1 dopa responsive dystonia diagnosed by whole genome sequencing. Background: Pathogenic variants in…
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