In-vivo free-water imaging and functional connectivity in a knock-in mouse model of DYT1 dystonia
Objective: To examine in-vivo functional connectivity and free-water diffusion imaging in dystonic mutant Tor1a knock-in (DYT1) and wild-type (WT) control mice. We test the hypothesis…Functional characterization of the upstream start codon in the GCH1 gene
Objective: To examine (1) the -22C > T point mutation which introduces a premature start codon upstream of the normal open reading frame (ORF) of…Refined basal ganglia model accounting for GPi modulation of thalamic tonic and burst modes
Objective: To test our hypothesis that a principal role of GPi GABAergic output is to regulate the dual burst and tonic modes of thalamocortical neurons.…Differences in processing proprioceptive input from the neck muscles may explain the benefit from sensory tricks in patients with idiopathic cervical dystonia
Objective: We used a paradigm of neck vibration to test the hypothesis that the sensory trick (ST), which is used by some patients with idiopathic…Heterozygous TUBB4A knock-out impairs mitochondrial motility in human neuronal model of DYT4
Objective: To study the role of tubulin beta 4A (TUBB4A) in mitochondrial motility in isogenic induced pluripotent stem cells (iPSC)-derived neurons. Background: Heterozygous mutations in…Brain networks revealed by resting state functional MRI in familial and sporadic primary dystonia
Objective: To identify disease-related brain networks in hereditary and sporadic primary dystonia using resting state fMRI (rs-fMRI). Background: Abnormalities of the cerebello-thalamo-cortical (CbTC) pathways have…Striatal postsynaptic dysfunction in X-linked dystonia-parkinsonism is associated with disease progression
Objective: To assess pre- and postsynaptic dopaminergic function in X-linked dystonia-parkinsonism (XDP). Background: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative adult-onset movement disorder associated with striatal…Axial prominent, delayed onset dystonia in cerebral palsy: Highlights on a distinct phenotype with favorable outcome following deep brain stimulation
Objective: To report on a subgroup of DCP patients with delayed onset of dystonia who received DBS therapy. Background: Dyskinetic cerebral palsy (DCP) is the…Impaired processing of visuo-spatial information in cervical dystonia patients
Objective: The goal of our study was to investigate the spatial distribution of visual processing resources in cervical dystonia (CD) patients with a pure left…Multi-parameter imaging in hemidystonia responsive to GPi deep brain stimulation
Objective: To present i) imaging data in a case of hemidystonia using structural (diffusion tensor imaging-DTI and fiber tractography-FT) and functional (functional MRI-fMRI and magnetoencephalography-MEG)…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.