The cerebellum has a well-established role in maintaining motor coordination and studies of
cerebellar learning suggest that it does this by recognizing neural patterns, which it uses to …

Primary focal dystonias form a group of neurological disorders characterized by involuntary,
sustained muscle contractions causing twisting movements and abnormal postures. The …

Objectives: To provide a revised version of earlier guidelines published in 2006.
Background: Primary dystonias are chronic and often disabling conditions with a …

Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic
movement disorder with autosomal-dominant inheritance and high penetrance, but the …

Although dystonias are a common group of movement disorders, the mechanisms by which
brain dysfunction results in dystonia are not understood. Rapid-onset Dystonia …

Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral
catecholamine deficiency. Tyrosine hydroxylase deficiency has been reported in fewer than …

Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with an
autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a …

Work over the past two decades lead to substantial changes in our understanding of
dystonia, which was, until recently, considered an exclusively sporadic movement disorder …

Dystonia is a common movement disorder seen by neurologists in clinic. Genetic forms of
the disease are important to recognize clinically and also provide valuable information about …

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 …