A line of evidence suggests that the pathophysiology of dystonia involves the striatum,
whose activity is modulated among other neurotransmitters, by the dopaminergic system …

Mutations in the GNAO1 gene cause a complex constellation of neurological disorders
including epilepsy, developmental delay, and movement disorders. GNAO1 encodes Gα o …

Dystonia is a neurological disorder characterized by sustained or intermittent muscle
contractions causing abnormal movements and postures, often occurring in absence of any …

ABSTRACT Adenylyl cyclase 5 (ADCY5)‐related phenotypes comprise an expanding
disease continuum, but much remains to be understood about the underlying pathogenic …

Abstract Purpose of Review Since the advent of next-generation sequencing, the number of
genes associated with dystonia has been growing exponentially. We provide here a …

This review provides an overview of the synaptic dysfunctions of neuronal circuits and
underlying neurochemical alterations observed in the hyperkinetic movement disorders …

Paroxysmal movement disorders (PMDs) are rare neurological diseases typically
manifesting with intermittent attacks of abnormal involuntary movements. Two main …

The dystonias are a group of disorders characterized by excessive contraction of muscles
leading to abnormal involuntary movements. The clinical manifestations are very …

Objective Genetic subtypes of dystonia may respond differentially to deep brain stimulation
of the globus pallidus pars interna (GPi DBS). We sought to compare GPi DBS outcomes …

Dystonia is a clinically, genetically, and biologically heterogeneous hyperkinetic movement
disorder caused by the dysfunctional activity of neural circuits involved in motor control. Our …