Parkinsonism in combined Fragile X and XYY Syndromes: A Case Report
Objective: We describe an unusual case of parkinsonism in a 45-year-old male with Fragile X syndrome and XYY syndrome. Background: Fragile X syndrome (FXS) is…Three-Year Progression of the Postural Control Alterations in Hereditary Spastic Paraplegias
Objective: To assess the progression of postural control impairments in patients with HSP and identify the most sensitive COP parameter to change during a three-year…New Pathological Findings in an International Cohort of Hereditary Spastic Paraplegia 4 Patients
Objective: To determine the clinical and genetic differences in hereditary spastic paraplegia SPG4 patients across various countries. Background: SPG4/SPAST gene account for approximately 40% of…Expanding the phenotypic spectrum of movement disorders in 22q11.2 deletion syndrome
Objective: To formally characterize the evolving spectrum of movement disorders associated with chromosome 22q11.2 deletion syndrome Background: Emerging evidence suggests that a wide range of…Utility of Whole Exome Sequencing in movement disorders potentially related to Mitochondrial cytopathies
Objective: To describe the clinic-genetic profile of clinically suspected mitochondrial cytopathies with movement disorders (MDs). Background: Literature on the clinico-genetic spectrum of movement disorders related…Association of cognition and other clinical characteristics of individuals with Essential Tremors
Objective: To examine the correlation between cognition and other clinical characteristics (motor and non-motor) in people with Essential Tremor. To examine the correlation between cognition and…Genetic Analysis of UK Kindreds with Familial Tremor in The Global Parkinson’s Genetics Progam (GP2)
Objective: To gain a better understanding of the genetic basis of familial tremor syndromes. Background: The genetic basis of tremor is poorly understood and familial…Clinical Assessment Of Dysautonomia And REM Sleep Behavior Disorders in Essential Tremor
Objective: To assess the frequency of Rapid Eye Movement (REM) Sleep Behavior Disorder (RBD) and dysautonomic symptoms in Essential Tremor (ET) patients and to identify…Comparative assessment of cognitive functions of patients with ET and ET plus.
Objective: to conduct a comparative analysis of changes in neurological status and cognitive decline of various types of essential tremor (ET). Background: in the new…Combining EMG and Simulation-Based Biomarkers to Enhance Parkinson’s Resting Tremor Diagnosis
Objective: To develop a diagnostic tool for Parkinson's Disease (PD) resting tremor using surface Electromyography (sEMG) data and musculoskeletal simulations to identify key biomarkers. Background:…
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