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 …

Dystonia is a movement disorder of both genetic and non-genetic causes, which typically
results in twisted posturing due to abnormal muscle contraction. Evidence from dystonia …

An enigmatic feature of many genetic diseases is that mutations in widely expressed genes
cause tissue-specific illness. One example is DYT1 dystonia, a neurodevelopmental disease …

DYT1 dystonia is a severe form of inherited dystonia, characterized by involuntary twisting
movements and abnormal postures. It is linked to a deletion in the dyt1 gene, resulting in a …

Dystonia, a neurological disorder defined by abnormal postures and disorganized
movements, is considered to be a neural circuit disorder with dysfunction arising within and …

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 …

Lack of a preclinical model of primary dystonia that exhibits dystonic-like twisting movements
has stymied identification of the cellular and molecular underpinnings of the disease. The …

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 …

Presently, 17 distinct monogenic primary dystonias referred to as dystonias 1–4, 5a, b, 6–8,
10–13 and 15–18 (loci DYT 1–4, 5a, b, 6–8, 10–13, 15–18) have been recognized. Twelve …

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 …