The characteristic and prognostic role of blood inflammatory markers in patients with Huntington’s disease from China
Objective: This study aims to elucidate the role of peripheral inflammation in Huntington's disease (HD) by examining the correlation of peripheral inflammatory markers with clinical…Cortical myoclonus in DHDDS: the multifaced presentation of a single movement disorder
Objective: To characterize the myoclonus spectrum and related clinical burden in patients with autosomal dominant DHDDS deficiency. Background: DHDDS deficiency is a neurometabolic disorder associated…Clinical and Genetic Characteristics in a Chinese Cohort of Complex Spastic Paraplegia Type 4
Objective: To delineate the genotypic and phenotypic spectrum of patients with complex SPG4 phenotype and further explore genotype-phenotype correlations. Background: Spastic paraplegia type 4 (SPG4),…Effect of Ecopipam, a Selective Dopamine-1 Receptor Antagonist, on Tic Characteristics as Assessed by the YGTSS: Results from a Phase IIb Randomized, Double-blind, Placebo-controlled Clinical Trial in Tourette Syndrome
Objective: Assess the effect of ecopipam treatment on motor and phonic/vocal tic characteristics: number, frequency, intensity, complexity, and interference comprising the Yale Global Tic Severity…Reliability of neurophysiological and cerebral tremor features in Parkinson’s disease
Objective: We aim to assess the stability and intra-individual reliability of clinical, neurophysiological and neuroimaging Parkinson’s Disease (PD) tremor parameters. Background: The cerebello-thalamo-cortical circuit (CTC)…Prevalence of Phosphorylated Alpha-Synuclein in Skin Biopsies of Essential Tremor Patients
Objective: To examine the prevalence of phosphorylated alpha-synuclein in nerve fibers in patients with essential tremor (ET) and ET plus. Background: Although Essential Tremor (ET)…The Intention Component of Postural Tremor in Essential Tremor
Objective: This study seeks to better characterize postural tremor in ET and to investigate the effect of intention and visual input on the amplitude and…A novel G413S mutation in the CSF1R gene causes Hereditary Diffuse Leucoencephalopathy with axonal Spheroids; clinically overlapping features of Parkinsonism
Objective: The current study was designed to investigate the genetic cause of atypical Parkinsonism is a multigenerational Pakistani family Background: Hereditary Diffuse Leucoencephalopathy with axonal…OPTN gene associated with corticobasal syndrome: a novel multi-exon deletion and literature review
Objective: To describe a novel case of OPTN multiexon deletion causing a peculiar CBS-ALS phenotype. Background: While traditionally classified as distinct clinical entities, corticobasal syndrome…Association of polygenic risk score of the LRRK2 gene for Parkinson’s disease with lysosomal hydrolase activities in the Russian Population based on genetic profile and established risk factors
Objective: To studied a previously proposed polygenic risk scores (PRSs) for PD selected for the LRRK2 gene in a genetic data set of Russian population…
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