Transient weakness in myotonia congenita is caused by depolarization secondary to activation of persistent Na⁺ current in skeletal muscle.

The hypo- versus hyperkinetic nature of Parkinson’s disease and dystonia, respectively, may be reflected by differences in disease-specific spiketrain dynamics and striato-pallidal synaptic plasticity.

Drosophila DM1 models suggest that elevated cardiac expression of straightjacket/α2δ3, a regulatory subunit of voltage-gated calcium channel, contributes to cardiac conduction defects in DM1.

A novel sequencing-based method to characterize CNBP microsatellite expansions in DM2 patients demonstrates benefits for an improved dissection of DM2 genetic architecture, thus potentially ameliorating patient stratification and genetic counseling.

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.

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.

Ataxia, dystonia, and tremor phenotypes have distinct and generalizable cerebellar interposed nucleus spike signatures in mice, with defining features identified using a classifier model and pathogenicity tested using optogenetic manipulations.

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.

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.

The most common inherited dystonia, DYT1, is likely caused primarily by the dysfunction of the cerebellum rather than the basal ganglia.