Neuropsychological evaluation of cerebellar cognitive function in a series of patients with genetically confirmed CANVAS.
Objective: We aim to present the cerebellar cognitive affective evaluation and phenotypic description of a series of genetically confirmed CANVAS. Background: Cerebellar ataxia, neuropathy and…Gene Expression Quantification to Assess Frataxin Replacement Therapies in Friedreich’s Ataxia
Objective: To identify genetic disease and efficacy markers for Friedreich’s ataxia (FRDA) Background: FRDA is a genetic disease caused by decreased expression of the mitochondrial…Transcutaneous auricular vagal nerve stimulation has frequency depended propensity to improve gait in Parkinson’s disease – a pilot study
Objective: We used wearable inertion motion sensors (WMS) to compare the acute effects of transcutaneous auricular vagal stimulation (taVNS) at 100Hz (taVNS100), 25Hz (taVNS25), and…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.…
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