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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.

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.

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.

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.

Signaling from glia and nerves regulate the development of axonal and dendritic motor neuron architecture, needed for walking in the fruit fly species Drosophila.

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.

Conditional deletion of the DYT1 dystonia protein torsinA causes selective cell autonomous neurodegeneration of striatal and brainstem cholinergic neurons, and severe motor behavioral abnormalities.

A dopamine transporter deficiency syndrome (DTDS)-linked mutation, R445C, underlies dopamine dysfunction and, more broadly, the clinical phenotypes shared by DTDS and Parkinson’s disease.

LAP1 adopts an AAA+ like fold that, while unable to bind nucleotide, can enhance ATPase activity in the neighboring TorsinA protomer in an unusual heterohexameric ring, via an arginine finger.

Deep brain stimulation (DBS) exhibit that the excitability of the basal ganglia can govern the trade off between exploiting available resources or exploring alternative courses of action.