TorsinA and dystonia: from nuclear envelope to synapse

Abstract excerpt

A GAG deletion in the DYT1 gene is responsible for the autosomal dominant movement disorder, early onset primary torsion dystonia, which is characterised by involuntary sustained muscle contractions and abnormal posturing of the limbs. The mutation leads to deletion of a single glutamate residue in the C-terminus of the protein torsinA, a member of the AAA+ ATPase family of proteins with multiple functions. Since...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Neurodegenerative Diseases
• Share to Hereditary Neurological Disorders
• Share to Neurological disorders and treatments