Dystonia type 1 (DYT1) is a dominantly inherited neurological disease caused by mutations
in TOR1A, the gene encoding the endoplasmic reticulum (ER)-resident protein torsinA …

Introduction The dystonias are a group of disorders defined by over-contraction of muscles
leading to abnormal movements and postures. In recent years, enormous advances have …

Early-onset dystonia is an autosomal dominant movement disorder associated with deletion
of a glutamic acid residue in torsinA. We generated four independent lines of transgenic …

Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically,
phenotypically and etiologically diverse and it is unknown whether their pathogenesis …

Dystonias comprise a group of movement disorders that are characterized by involuntary
movements and postures. Insight into the nature of neuronal dysfunction has been provided …

Primary torsion dystonia (PTD) has a broad clinical spectrum, with earlier onset of symptoms
associated with more generalized muscle involvement. The causes for most dystonia are …

Introduction Early onset isolated dystonia (DYT1) is linked to a three base pair deletion
(ΔGAG) mutation in the TOR1A gene. Clinical manifestation includes intermittent muscle …

Our understanding of how genotype determines phenotype in primary dystonia is limited.
Familial young-onset primary dystonia is commonly due to the DYT1 gene mutation. A …

Background: In recent years, the identification of several new dystonia genes has provided
important insights into the nature of this clinically and genetically heterogeneous disorder …

Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …