123 results found
    1. Neuroscience

    A role for cerebellum in the hereditary dystonia DYT1

    Rachel Fremont, Ambika Tewari ... Kamran Khodakhah
    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, Katherine Darr ... William T Dauer
    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. Neuroscience

    DYT1 dystonia increases risk taking in humans

    David Arkadir, Angela Radulescu ... Yael Niv
    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.
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    1. Neuroscience

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

    Samantha Washburn, Rachel Fremont ... Kamran Khodakhah
    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 dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1

    Yi Bessie Liu, Ambika Tewari ... Kathleen J Sweadner
    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.
    1. Neuroscience

    Functional abnormalities in the cerebello-thalamic pathways in a mouse model of DYT25 dystonia

    Hind Baba Aïssa, Romain W Sala ... Daniela Popa
    In a mouse model of DYT25 dystonia with disruption of striatal neurotransmission by Gnal mutation, the cerebello-thalamic excitability is increased following symptom expression and θ-burst cerebellar stimulations during cholinergic-induced dystonia depress the cerebello-thalamic transmission and reduce the motor symptom severity.
    1. Developmental Biology
    2. Neuroscience

    TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models

    Jay Li, Chun-Chi Liang ... William T Dauer
    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

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

    Marta Maltese, Jennifer Stanic ... Antonio Pisani
    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. Medicine
    2. Neuroscience

    The mechanism underlying transient weakness in myotonia congenita

    Jessica H Myers, Kirsten Denman ... Mark M Rich
    Transient weakness in myotonia congenita is caused by depolarization secondary to activation of persistent Na+ current in skeletal muscle.
    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, Brian A Sosa ... Thomas U Schwartz
    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.

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