Clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) studied with whole exome sequencing (WES)
Objective: We aim to investigate the clinical and genetic features of PKD in a large cohort of patients in with WES. Background: PKD is a…Hypophosphatasia presenting as parkinsonism with compound heterozygous mutations in ALPL gene
Objective: We report a hypophosphatasia patient presenting as parkinsonism, characterized by compound heterozygous mutations in ALPL gene. Background: Hypophosphatasia (HPP) is a rare metabolism disease,…Increased level of a lysosomal phospholipid, BMP, in urine of LRRK2 G2019S mutation carriers with or without Parkinson’s disease: implications for therapeutic development
Objective: To study alterations in urinary phospholipids as biomarkers of LRRK2 mutations and Parkinson’s disease (PD) status. Background: LRRK2 mutations are a common cause of…TFEB-driven expression prevents neurodegeneration in a multiple system atrophy mouse model
Objective: To explore the potential neuroprotective effects of overexpressing the transcription factor EB in a MSA mouse model . Background: Synucleinopathies are neurodegenerative diseases characterized…Restoring AADC enzyme synthesis in AADC deficiency: MRI-Guided Delivery of AAV2-hAADC Gene Therapy to the Midbrain
Objective: Evaluate the safety and efficacy of real-time MR-guided delivery of adeno-associated virus serotype 2 (AAV2)-hAADC delivery to the SNc and VTA for the treatment…Bilateral Putaminal AAV2-GDNF Delivery the Treatment of Advanced Parkinson’s Disease
Objective: To investigate the safety, tolerability, and early clinical efficacy of escalating doses of AAV2-GDNF delivered into the bilateral putamen of patients with advanced PD…Evidence of survival and integration of implanted autologous peripheral nerve graft in substantia nigra in a patient with Parkinson’s disease
Objective: We report a patient with Parkinson’s disease (PD) who underwent deep brain stimulation (DBS) simultaneously with peripheral nerve graft in substantia nigra (SN) and the…Investigating the impact of a-synuclein pathology on human embryonic stem cell derived dopaminergic neurons transplanted in an accelerated a-synuclein rat model of Parkinson’s disease
Objective: In this study, we assess how transplanted human embryonic stem cell (hESC) derived dopaminergic (DA) neurons survive, mature, integrate and innervate the host circuitry…The Role of Dysfunctional BDNF in Remodeling the Parkinsonian Striatum Following Dopamine Neuron Grafting in CRISPR rs6265 Rats
Objective: To evaluate the impact of the rs6265 Bdnf single nucleotide polymorphism (SNP) on function & synaptic integration of primary dopamine (DA) neuron grafts in…Differential effects of stem cell therapy in adult and middle-aged Parkinsonian mice
Objective: To perform an in-depth analysis of the effects of transplanting neural stems cells in Parkinsonian mice. Background: Parkinson´s disease (PD) is the second most…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.