Dystonia is probably the most common form of movement disorder encountered in the
clinical practice. It is characterized by sustained muscle contractions, usually producing …

Primary dystonia is a poorly understood but common movement disorder. Recently, several
new primary dystonia genes were identified that provide new insight into dystonia …

A trinucleotide deletion of GAG in the DYT1 gene that encodes torsinA protein is implicated
in the neurological movement disorder of Oppenheim's early-onset dystonia. The mutation …

Background: Impaired cortical inhibiton and maladaptive cortical plasticity are functional
hallmarks of sporadic focal dystonias. Whether or not these mechanisms translate to …

The dystonias are a group of disorders characterized by involuntary twisting and repetitive
movements. DYT1 dystonia is an inherited form of dystonia caused by a mutation in the …

DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA.
How these mutations cause dystonia remains unknown. Mouse models which have …

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

Primary monogenic forms of dystonia manifest solely or mainly with dystonia; they have
been linked to a number of genes and loci and assigned “DYT” numbers. The pure dystonia …

Animal models are pivotal for studies of pathogenesis and treatment of disorders of the
central nervous system which in its complexity cannot yet be modeled in vitro or using …

Dystonias are a heterogeneous group of disorders which are known to have a strong
inherited basis. This review details recent advances in our understanding of the genetic …