Hereditary Adult-Onset Generalized Dystonia Associated with Pathogenic IRF2BPL Mutation
Objective: To describe an atypical cluster of three siblings with autosomal dominant third-to-fifth decade-onset generalized dystonia associated with a pathological IRF2BLP gene. Background: Interferon regulatory…Bilateral GPi Deep Brain Stimulation for Severe Speech-Induced Dystonic Dysfluency: A Novel Phenotype at the Stuttering-Dystonia Interface
Objective: To report the first case of bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) producing transformative improvement in severe speech-induced dystonic dysfluency at…Phenomenological Gaps in Rating Scales for Blepharospasm Motor Severity
Objective: To evaluate domain coverage of rating scales used to quantify motor severity of blepharospasm (BSP). Background: BSP rating scales have been evaluated for their…Phenotypic Overlap Between Essential Tremor and Dystonic Tremor: Diagnostic Features, Misclassification, and Clinical Implications :A Systematic Review
Objective: To review evidence identifying clinical and neurophysiologic features that distinguish essential tremor from dystonic tremor and highlight patterns associated with diagnostic misclassification. Background: Distinguishing…Expanding the Spectrum of Non Motor Symptoms in Dystonia: Focus on Autonomic Signs and Pain
Objective: To assess autonomic nervous system (ANS) involvement and pain prevalence among non-motor symptoms (NMS) in different types of dystonia Background: Prevalence and functional impact…An observational study of segmental and generalized isolated dystonia to inform development of new drug therapies
Objective: The goal of this study is to characterize severity and variability of symptoms in people with segmental, multifocal, or generalized isolated dystonia. Standardized data…Uncovering novel genomic alterations in dystonia using gene burden analysis
Objective: To identify genomic alterations that are over-represented in the Indian dystonia cohort using gene burden analysis of rare variants. Background: Dystonia is a complex…Power Spectral Density Increases Covary with Clinical Overstimulation During Dystonia Deep Brain Stimulation Programming
Objective: To assess the role of local field potential (LFP) as an acute biomarker of maximal tolerable stimulation (MTS) in dystonia patients. Background: Dystonia is…Basal Ganglia Germinoma (BGG) Presenting as Hemidystonia
Objective: We describe an unusual case of progressive right-sided hemidystonia with accompanying imaging and video. Background: Intracranial germinomas most often arise from midline structures, but…Atypical Phenotype of SORL1-Associated Early-Onset Alzheimer’s Disease With Oromandibular and Cervical Dystonia
Objective: We present a case of early-onset Alzheimer’s disease associated with a mutation in the SORL1 gene accompanied by extrapyramidal symptoms, including oromandibular and cervical…
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