Our ability to manipulate the genetic constitution of the nervous system has come of age with
various technologies, including virus vectors that can efficiently deliver genes to neurons …

The dystonias are a heterogeneous group of hyperkinetic movement disorders
characterised by involuntary sustained muscle contractions that lead to abnormal postures …

The dystonias are a common clinically and genetically heterogeneous group of movement
disorders. More than ten loci for inherited forms of dystonia have been mapped, but only …

The endoplasmic reticulum (ER) can transform from a network of branching tubules into
stacked membrane arrays (termed organized smooth ER [OSER]) in response to elevated …

TorsinA, a protein with homology to yeast heat shock protein104, has previously been
demonstrated to colocalize with α‐synuclein in Lewy bodies, the pathological hallmark of …

Parkinson's disease (PD) is linked genetically to proteins that function in the management of
cellular stress resulting from protein misfolding and oxidative damage. Overexpression or …

Primary dystonia is a disease characterized by involuntary twisting movements caused by
CNS dysfunction without underlying histopathology. DYT1 dystonia is a form of primary …

Early-onset torsion dystonia, a CNS-based movement disorder, is usually associated with a
single amino acid deletion (ΔE302/303) in the protein torsinA. TorsinA is an AAA+ ATPase in …

As more details emerge on the mechanisms that mediate and control intracellular transport,
the molecular basis for variety of human diseases has been revealed. In turn, disease …

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 …