DYT1 dystonia is caused by a deletion in a glutamic acid residue in the C-terminus of the
protein torsinA, whose function is still largely unknown. Alterations in GABAergic signaling …

Dystonia is a movement disorder characterized by involuntary and repetitive co-contractions
of agonist and antagonist muscles. Dystonia 6 (DYT6) is an autosomal dominant dystonia …

The pathophysiology of primary dystonia is thought to involve dysfunction of the basal
ganglia cortico‐striatal‐thalamo‐cortical motor circuits. In the past, emphasis was placed on …

Although all forms of dystonia share the core clinical features of involuntary dystonic
dyskinesia, there is not only marked phenotypic but also etiologic heterogeneity. Isolated …

Background DYT1 early-onset generalized dystonia is a neurological movement disorder
characterized by involuntary muscle contractions. It is caused by a trinucleotide deletion of a …

Different pathophysiological mechanisms may underlie similar phenotypes whereas
different genotypes may share similar functional abnormalities. The respective roles of …

Dystonia is a clinical syndrome with sustained muscle contraction, twisting, and abnormal
postures. A number of different genetic forms have been defined, but most cases are …

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 …

Four genes associated with isolated dystonia are currently well replicated and validated.
DYT-THAP1 manifests as young-onset generalized dystonia with predominant …

DYT1 dystonia is a primary generalized early-onset torsion dystonia caused by mutations in
DYT1 that codes for torsinA and has an autosomal dominant inheritance pattern with∼ 30 …