Dopa-responsive Combined Dystonia Due to ATP1A3 Gene Variant
Objective: To describe a remarkable case of a patient with an atypical ATP1A3 phenotype with levodopa responsiveness, expanding our understanding of this gene mutation. Background: The ATP1A3-spectrum disorders…Amantadine Is Effective Long-term in Parkinson’s Disease
Objective: This study aimed to investigate the long-term effectiveness of amantadine in patients with PD. Background: Amantadine has been used in the symptomatic treatment of…Movement Disorders in Hereditary Spastic Paraplegia (HSP): A Systematic Review and Individual Participant Data Meta-Analysis
Objective: To investigate genotype-phenotype associations in hereditary spastic paraplegia (HSP) with a focus on movement disorders. Background: HSP is a rare genetically-driven disorder associated with…Reversible secondary parkinsonism attributed to metformin-induced lactic acidosis
Objective: We describe the case of a 59-year-old man who was evaluated for abnormal imaging and subacute parkinsonism. Background: Secondary parkinsonism can be caused by…Pedunculopontine Nucleus Structural Integrity and Freezing of Gait in Parkinson’s Disease Patients
Objective: We investigated pedunculopontine nucleus (PPN) structural integrity in Parkinson disease (PD) patients with diffusion tensor imaging (DTI) and whether the DTI changes correlate with…3′ UTR variations may alter the mRNA expression in spinocerebellar ataxia type-2.
Objective: 1. To study the miRNA binding site variations by direct sequencing of 3’ UTR of ATXN-2gene.2. To check the mRNA expression by using qRT-PCR…Longitudinal white matter microstructural changes in the prodromal phase of PD: A 2 year prospective study
Objective: To prospectively investigate white matter (WM) alterations in non-manifesting carriers (NMCs) of Parkinson's disease (PD)-related mutations, and its association with likelihood ratio (LR) scores.…SCFAs participate in the pathogenesis of Parkinson’s disease by regulating NLRP3 inflammasomes activation
Objective: To explore the role and related mechanism of gut microbiota metabolites short-chain fatty acids(SCFAs) in the pathogenesis of Parkinson's disease(PD). Background: Growing research have…Gait abnormalities relate to increased extracellular water in the substantia nigra in Parkinson’s disease patients
Objective: The aim of this study was to investigate the role of substantia nigra microstructural integrity in parkinsonian gait impairments. Background: Gait impairments are common…Nicotine and influences on hyperkinetic movement disorders
Objective: We describe hyperkinetic movement disorders with a variable response to smoking and nicotine and review clinical and pre-clinical evidence regarding the role of smoking,…
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