Prion disease with 8 octapeptide repeat insertional mutation presenting with HDL1 phenotype
Objective: To report the clinical and genetic features in a patient with an insertion of 8 extra octapeptide repeats in the prion protein gene (PRNP).…Performance at the Category-Exemplars language test (CATEX) in Parkinson’s disease and Huntington’s disease Italian population
Objective: This study aims to explore CATEX sensitivity to detect early cognitive deficits in Huntington’s disease (HD) and Parkinson’s disease (PD) Italian population. Background: PD…Burden of Huntington’s disease (HD) on loss of employment status and its association with disease stage
Objective: To evaluate the impact of HD on patients’ employment status and understand its association with disease stage. Background: Work disability is an important outcome…Defining time and anatomical specificity of basal ganglia white matter loss in premanifest Huntington’s disease
Objective: To identify when white matter connections first begin to degenerate in HD and which connections are most susceptible to early degeneration. Background: Huntington’s disease…Abnormal pattern of brain glucose metabolism in multiple system atrophy
Objective: To define and cross-validate the brain glucose metabolic abnormalities in patients with a clinical diagnosis of Multiple System Atrophy (MSA). Background: Despite the availability…Gait and motion analysis in Progressive Supranuclear Palsy
Objective: Evaluate gait abnormalities in progressive supranuclear palsy (PSP) with three-dimensional motion analysis. Background: PSP is associated with complex, disabling gait and balance abnormalities that…Navigating therapeutic landscapes with Parkinson’s disease in a scarce biomedical healthcare setting: the case of Kenya
Objective: To explore how people with Parkinson’s disease (PWPD) living in Kenya manage and negotiate their treatment and care within a scarce and overwhelmed biomedical…Using of GcMAF in patient from Uzbekistan with MS and a concomitant liver cirrhosis due to Hepatitis B
Objective: To study the effect of GcMAF on the general condition of patient, changes in motor activity and improvement of liver parameters after treatment. Background:…Patient experience interviews to inform a digital assessment of Parkinson’s disease
Objective: The aim of this study is to generate a conceptual framework that maps patient-relevant functional limitations to behavioral measures that can be captured with…Sex Moderates the Effects of Neurofibrillary Tangles on Cognition for Diffuse Lewy Body Pathology
Objective: To evaluate (1) the association between neurofibrillary tangle staging and cognition for participants with diffuse Lewy Body (LB) pathology, (2) whether this association differs…
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