62 results found
    1. Neuroscience

    Acute cerebellar knockdown of Sgce reproduces salient features of myoclonus-dystonia (DYT11) in mice

    Samantha Washburn et al.
    Acute knock down of Sgce that is mutated in Myoclonus Dystonia (DYT11), in the cerebellum of mice, leads to dystonia and myoclonus-like motor signs that like patients improve with alcohol.
    1. Neuroscience

    A role for cerebellum in the hereditary dystonia DYT1

    Rachel Fremont et al.
    The most common inherited dystonia, DYT1, is likely caused primarily by the dysfunction of the cerebellum rather than the basal ganglia.
    1. Neuroscience

    Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons

    Samuel S Pappas et al.
    Conditional forebrain deletion of Tor1a generates a dystonia model with face, construct, and predictive validity, and demonstrates that striatal cholinergic interneurons are selectively vulnerable to loss of the dystonia protein torsinA.
    1. Developmental Biology
    2. Neuroscience

    TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models

    Jay Li et al.
    Enhancing levels of the torsinA paralog torsinB prevents essentially all torsinA loss-of-function neuropathological and behavioral phenotypes, identifying torsinB as a novel therapeutic target for DYT1 dystonia.
    1. Neuroscience

    DYT1 dystonia increases risk taking in humans

    David Arkadir et al.
    Patients with DYT1 dystonia show aberrant risk-aversion in a simple decision-making task, in accordance with predictions of a reinforcement learning model of corticostriatal trial-and-error learning.
    1. Neuroscience

    Early structural and functional plasticity alterations in a susceptibility period of DYT1 dystonia mouse striatum

    Marta Maltese et al.
    Structural and functional striatal synaptic plasticity abnormalities occur early in a sensitive developmental period, representing a potential unique endophenotypic traits that increase the risk of manifesting clinical symptoms in DYT1 mutation carriers.
    1. Structural Biology and Molecular Biophysics
    2. Cell Biology

    Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia

    F Esra Demircioglu et al.
    High resolution structures of the essential human AAA+ ATPase TorsinA and its disease mutant in complex with an activator reveal details of the interaction that will guide drug design and further functional characterization.
    1. Medicine
    2. Neuroscience

    What is the true discharge rate and pattern of the striatal projection neurons in Parkinson’s disease and Dystonia?

    Dan Valsky et al.
    Aberrant striatal signaling does not induce drastic changes in the spontaneous discharge rate and pattern of the striatal projection neurons in Parkinson’s disease and Dystonia.
    1. Neuroscience

    A cell autonomous torsinA requirement for cholinergic neuron survival and motor control

    Samuel S Pappas et al.
    Conditional deletion of the DYT1 dystonia protein torsinA causes selective cell autonomous neurodegeneration of striatal and brainstem cholinergic neurons, and severe motor behavioral abnormalities.
    1. Neuroscience

    A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1

    Yi Bessie Liu et al.
    A mouse with a defined mutation in an extracellular matrix protein that is expressed in selected neurons sheds light on circuit abnormalities producing transient hyperkinetic movements.

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