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…Diagnosis and management of Myoclonus Dystonia Syndrome: a Survey of the European Reference Network for Rare Neurological Diseases.
Objective: To evaluate the diagnostic and treatment strategies in Myoclonus Dystonia Syndrome (MDS) used by experts from the European Reference Network for rare neurological diseases…MDSGene systematic review on dopa-responsive dystonia caused by mutations in GCH1, TH, SPR, PTS, or QDPR
Objective: To systematically review information regarding genotype, phenotype, and biochemistry in dopa-responsive dystonia (DRD). Background: To date, five causative genes (GCH1, TH, SPR, PTS, and…A Child with Fever-Induced Paroxysmal Weakness and Encephalopathy with ATP1A3 mutation
Objective: We describe a case of fever-induced paroxysmal weakness and encephalopathy (FIPWE), also known as relapsing encephalopathy with cerebellar ataxia (RECA) and expand the phenotypic…
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