Data associated with Pocratsky et al 2023, Science Translational Medicine

 Data in this collection are associated with the following publication:

Pathophysiology of Dyt1 dystonia is mediated by spinal cord dysfunction
 

In this study, we confined the biallelic - or "double" - conditional knockout (d-cko) of Tor1a - a gene associated with inherited DYT1-TOR1A dystonia - to the developing spinal cord and dorsal root ganglia (DRG). In doing so, we discovered that mice recapitulate the eponymizing features of DYT1-TOR1A dystonia. Mice develop an early onset, caudo-to-rostral generalising movement disorder marked by abnormal muscle contractions.

Data deposited include:

(1) Validation of the mouse model, including qPCR and Western blots

(2) Transmission and scanning electron micrographs of morphological changes to the nuclear envelope in spinal neurons and dorsal root ganglia

(3) Transmission electron micrographs of morphologically intact neurons in the striatum and globus pallidus, sites that were spared from Tor1a cko.

(4) Summary postnatal videos of the dystonic-like phenotype in spinal Tor1a d-cko mice vs littermate controls

(5) Postnatal videos from a separate cohort of mice wherein the biallelic conditional knockout of Tor1a is confined to dorsal root ganglia (DRG Tor1a d-cko)

(6) All videos collected from littermate controls and spinal Tor1a d-cko mice that were scored by external raters (including training video dataset for normal sensory-motor development throughout postnatal maturation)

(7) Electromyogram (EMG) data that were collected from the gastrocnemius and tibialis anterior muscles from control and spinal Tor1a d-cko mice

(8) Extracellular recordings from isolated postnatal spinal cords, measuring spontaneous electroneurogram (ENG) activity from lumbar spinal ventral roots as well as drug-induced rhythmic bursting (“fictive locomotion”)

(9) Extracellular recordings from isolated postnatal spinal cords, measuring monosynaptic reflexes (in vitro analogue to H-reflex) from the lumbar spinal cord

(10) Intracellular recordings from sliced postnatal spinal cords, measuring intrinsic properties of lumbar spinal motoneurons as well as excitatory post-synaptic currents (EPSCs) evoked following dorsal root stimulation

(11) Extracellular recordings from isolated postnatal spinal cords, measuring afferent (dorsal root) and efferent (ventral root) conduction velocity