A Novel Variant of TUBB4A Dystonia (DYT4): A Case Report
Objective: To describe the clinical presentation of a case of TUBB4A dystonia with a novel genetic variant Background: A missense variant at Arg2Gly in the…Focal, Task-Specific Left Leg Dystonia Preceding Parkinson’s Disease by Twenty Five Years
Objective: To report a case of focal, task-specific left leg dystonia who developed Parkinson’s disease (PD) two and half decades later. Background: Dystonia in various…Unlocking dystonia from Parkinson’s disease (PD) with directional deep brain stimulation (DBS)
Objective: To investigate dystonia associated with PD in patients undergoing unilateral subthalamic nucleus (STN) DBS implantation. Background: Dystonia is a twisting, involuntary movement that often…Improving estimation of Parkinson’s disease risk – enhancing the PREDICT-PD algorithm
Objective: To develop and test an enhanced algorithm for the prediction of Parkinson’s disease (PD) risk. Background: The PREDICT-PD algorithm estimates risk of PD using…Characteristics of prescribers for Parkinson’s disease patients: A nationwide study on 2017 Medicare data
Objective: To assess characteristics of Medicare prescribers for Parkinson’s disease (PD) patients, as a target population for delivering advanced PD care education. Background: PD is…Movement Disorders in the Plain People
Objective: Genomic discovery often occurs in large institutions, but the contribution of small, rural genetics clinics must not be overlooked. While rare, these rural genetics…Sleep and Polysomnographic Abnormalities in Indian Patients with Huntington’s Disease
Objective: To study the sleep abnormalities in patients with HD by usingquestionnaire and Video Polysomnography (VPSG) and correlate with the eye movement abnormalities. Background: About 87.8% of the patients report some sleep disturbance…Association between the number of CAG repetitions and cognitive performance in Huntington’s disease in patients of the National Institute of Neurology and Neurosurgery “MVS”
Objective: To establish the relationship between the number of CAG repetitions and the total Montreal Cognitive Assessment (MoCA) scores in patients with Huntington disease (HD).…Speech is a sensitive marker in premanifest Huntington’s disease: exploring acoustic, cognitive and fine motor performance
Objective: To explore the utility of objective analysis of speech as a quantifiable clinical biomarker in premanifest HD. Background: The autosomal dominant inheritance of Huntington’s…A Rare Disease with Atypical Clinical And Imaging Findings: Anti Lgi-1 Encephalitis
Objective: We present a case that will raise awareness about the disease with atypical clinical and rich imaging findings that has benefited greatly from intensive…
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