A heterozygous splicing variant in NPC2 in a patient with PSP
Objective: Clinical, neuroimaging, genetic and biochemical characterization of a patient with a PSP-like phenotype carrying a splicing mutation in NPC2. Background: Niemann-Pick type C disease…Neurodegeneration with brain iron accumulation (NBIA): Two cases with different subtypes and a rare mutation
Objective: We present two cases with clinical, radiological and genetical (a very rare mutation) findings of neurodegeneration with brain iron accumulation (NBIA). Results: Case 1.…Two siblings with action myoclonus renal failure syndrome
Objective: To describe two cases of the rare action myoclonus renal failure syndrome. Background: Action Myoclonus Renal Failure syndrome (AMRF) is characterized by neurological symptoms…Novel PLA2G6 c.1627C>T homozygous mutation and response to DBS-GPi
Objective: We present a novel homozygous PLA2G6 mutation and response to Deep Brain Stimulation (DBS). Background: Neurodegeneration with brain iron accumulation (NBIA) type 2/PLA2G6 is…Generation of human induced pluripotent stem cells carrying a safety bet for cell-based therapy in Parkinson’s disease
Objective: To increase the safety of future cell-based therapy in Parkinson's disease, we generated human induced pluripotent stem cells (hiPSCs) possessing a safety switch via…Comparison of two protocols for neural induction and cultivation of iPSCs derived neural stem cells
Objective: Our objective was to establish and evaluate a protocol for deriving proliferative neural cultures from induced pluripotent stem cells (iPSC). Background: For generating patient…Functional characterisation and the selective vulnerability of SNCA (A30P) patient-derived midbrain dopaminergic neurons to ER stress
Objective: To functional characterise and phenotype the genetic Parkinson's disease (PD) patient with an A30P point mutation in SNCA using midbrain dopaminergic neurons (mDANs) vs…Characterisation of the A30P mutation in alpha-synuclein gene in patient-derived cellular model of Parkinson’s disease
Objective: In this study, we aim to generate and characterise patient-derived midbrain dopaminergic neurons (mDANs) of the A30P Parkinson's disease (PD) familial case. Our goal…Clinical and neuroimaging outcomes up to 18 years after fetal tissue transplant for Parkinson’s disease
Objective: To characterize clinical and radiological outcomes in 4 patients with Parkinson's disease (PD) at 16-18 years post-transplant of fetal ventral mesencephalic (fVM) tissue into…Unconventional chaperone inhibits alpha-synuclein amyloid formation by promoting off-pathway aggregation
Objective: To find new potential druggable targets that prevent alpha-synuclein aggregation and toxicity in Parkinson's disease. Background: Alpha-synuclein (aS) is the primary protein deposited in…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.