Juvenile DBP Deficiency – Case series
Objective: To report clinical phenotypes of 2 siblings with symptoms of Juvenile-onset D-bifunctional protein (DBP) deficiency. Background: HSD17B4 gene codes for DBP, a peroxisomal protein with…Mutation of the ATP5F1A gene associated with dystonia, spasticity, myoclonus, cognitive impairment and epilepsy – a rare case report of a patient
Objective: We present a patient with generalized dystonia with spasticity, craniofacial dysmorphism and myoclonus on the left upper limb due to mutation of the ATP5F1A…Miniscope-based neural circuit profiling in freely behaving animals for preclinical therapeutic assessment
Objective: To advance translational research by revealing detailed relationships between neural circuit activity and behavioural symptoms in preclinical models Background: Conventional preclinical tests for CNS…Neural oscillatory dynamics in Parkinson disease and dystonia: Insights from EEG analysis
Objective: Changes in total power and entropy across raw data may enable the identification of comprehensive shifts in neural dynamics that may align with clinical…Monopolar sensing improves the efficiency of DBS programming in Parkinson’s disease
Objective: Compare the clinical outcomes of optimal settings between in-clinic monopolar sensing (MS) and standard of care monopolar review (MR) for deep brain stimulation in…Alpha-synuclein aggregate pathology in the cranial sensorimotor system in a mouse model of Parkinson’s disease.
Objective: The goal of this study was to examine the effect of a potential underlying mechanism responsible for the complex voice deficits that exist in…The potential role of monocytes a-synuclein and lipids as predictors of PD.
Objective: To study the role monocytic A-syn and lipids as biomarkers of PD. Background: A chronic pro-inflammatory pattern is present in Parkinson’s disease (PD) patients’…Pregnancy and delivery in women with Parkinson’s disease: A case series
Objective: To explore pregnancy, delivery, birth outcomes and disease course throughout pregnancy in women with Early Onset Parkinson’s disease (EOPD) who underwent pregnancy after onset…Association between Walking Pace, Brain Structure, and Risk of Parkinson’s Disease and Atypical Parkinsonism in the UK Biobank
Objective: This study sought to explore the effects of walking pace on Parkinson’s disease (PD), progressive supranuclear palsy (PSP), and multiple system atrophy (MSA) investigating…What you should know about your patient.
Objective: Support understanding of concerns of the Lesbian, Gay, Bisexual, Transgender Intersex, Queer +(LGBTIQ+) community and how they impact on health professional interactions Background: 9-10%…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.