ATP8A2 Mutation in a Tunisian Family : Expanding The Clinical Spectrum
Objective: Our aim was to report the clinical and paraclinical findings from two siblings who presented with a new phenotype of ATP8A2 gene mutation. Background:…Rare Variant Burden is Increased in Sporadic Late-onset Chinese Parkinson’s Disease Patients
Objective: We aim to study the rare variant burden in a panel of 29 Parkinson’s disease (PD) candidate genes (Table 1) in a cohort of…Expanding the Spectrum of Autosomal Recessive Genes Responsible for Parkinson’s Disease in the Chinese Population
Objective: We aimed to identify novel candidate autosomal recessive (AR) genes combining whole-exome sequencing (WES) and long-read sequencing data (LRS) in autosomal recessive Parkinson’s disease (AR-PD) families and sporadic early-onset…Relationship Between Non-Motor Symptoms, Kinematic Features, and Quality of Life in Cervical Dystonia
Objective: To assess the extent of non-motor symptoms (NMS) in Cervical Dystonia (CD) and investigate the interaction between NMS, kinematic metrics of motor severity, and…Brain De-Ironization with Nasal Spray of Iron Chelator in Treatment of Multiple System Atrophy, a Case Trial
Objective: Iron removal seems to be a treatment approach in Multiple system atrophy (MSA) because pathological findings shows the accumulation of iron and α-synuclein protein…PD GENEration: a genetic analysis beyond the classical 7 Parkinson’s disease genes
Objective: To expand the analysis of whole-exome sequencing (WES) data from patients with Parkinson’s Disease (PD) from the PD GENEration cohort. We looked for variants…Validation of Inertial Measurement Units and an application compared with the reference system to assess the gait in hereditary spastic paraplegia
Objective: To assess the reliability of spatiotemporal parameter measurements in HSP patients obtained from an inertial system and an application compared with the conventional motion…Disease Burden and Treatment in Patients With Essential Tremor in the United States: Real-World Evidence From a Cross-Sectional Survey of Physicians and Patients
Objective: To characterize disease burden and medication treatment insights in patients with essential tremor (ET) using Adelphi Essential Tremor Disease Specific Programme (DSP)TM data. Background:…Ataxic-spastic gait: a form of presentation of DYT5/DYT-GCH1
Objective: Describe a case of DYT5/DYT-GCH1 presenting with an ataxic-spastic gait Background: DYT5/DYT-GCH1 is an autosomal dominant disease typically characterized by lower limb dystonia starting…Frequency of LRRK2 p.L1795F variant in Parkinson’s Disease patients from Central Europe within the CEGEMOD consortium
Objective: The aim of this study was to investigate the presence of LRRK2 p.L1795F variant in PD patients from Central Europe. Background: Pathogenic variants in…
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