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. Author manuscript; available in PMC: 2014 Jun 15.
Published in final edited form as: Mov Disord. 2013 Jun 15;28(7):990–1000. doi: 10.1002/mds.25583

Table 3. Transgenic DYT1 dystonia rodent models.

Promoter Microdialysis Monoamines Locomotion Rotarod Beam Walking Gait Analysis Neuronal phenotype Additional findings
Rat neuron-specific
enolase 		NA ↓ DA in striatum (mice with
affected phenotype) 64

↓ DOPAC/DA in striatum
(mice with unaffected and
affected phenotype)
(1.5months)64		 Self-clasping,
hyperkinesia,
circling (mice with
affected phenotype
(1.5-months)64

↓ Rearing
(3 months)65		 Not affected
(3,6,9,12
months)65		 NA ↓ Forelimb and
hind limb stride
length
( 9 months)65		 Perinuclear inclusions for
ubiquitin and TorsinA in PPN
and PAG64		 Transgene expression lost after repeated breeding65
Human
cytomegalovirus (CMV) 		Not affected DA at
baseline in
striatum68

↓ DA by AMPH in
striatum (6months-
male)68

↓ DAT activity in
striatum (6-
months-male)69		 Not affectedin striatum (6
months-male)68

↑ DOPAC/DA and HVA/DA in
striatum (3-4months- male)67		 Not affected
(9months-male)66

↓ Basal locomotion
activity and by
AMPH
(6months- male)69		 ↓ Motor learning
(9 months-
male)66

Not affected (3-4
months male)67		 ↑ Transversal time
and slips
(3-4months-male)67		 ↑ Hind base width
(3-4 months-
male)67		 No torsinA or ubiquitin inclusions
in striatum (male)66

No torsinA or ubiquitin inclusions
No bleb formation in nuclear
envelope (male)67		 Abnormal response to D2 dopamine receptor
stimulation of Chls (9 months)72

Normal DAT, VMAT2, striatal DA receptors density (6
months-female)68

Impaired LTD and SD in medium spiny neurons70

↑ Striatal acetylcholinesterase activity (~2months)70

Altered GABAergic function in striatum (~2 months)75

↓ D2R, ↓ RGS9 in striatum (~2 months)74

↓Pause response by thalamic stimulation in Chls
(male)71
Murine prion NA htorsinAΔE mice:
↑ DOPAC, 5-HT, and 5-HIAA
in brain stem

htorsinA mice:
↓DA, 5-HT
and 5-HIAA in striatum
(5 months- male/female)77		 htorsinAΔE mice:
↑ Activity (6months-
male/female)77

htorsinA mice:

↓ Activity		 htorsinAΔE:
↓ Latency to fall,
↓ Learning
(6months-
ale/female)77

htorsinA mice:
Not affected		 htorsinAΔE:
Not affected
(6months-
male/female)77

htorsinA mice:
↑ Transversal time		 htorsinAΔE:
Not affected
(6months-
male/female)77

htorsinA mice:
↓ Mean stride
length for forelimbs
and hind limbs		 htorsinAΔE and htorsinA:
torsinA or ubiquitin inclusions
mainly in brainstem,
nuclear envelope disruption in
brainstem and striatum
(1.5months male)77		 Altered motor circuits integrity by diffusion tensor
imaging in cortex, striatum, cerebellum (5months -male)77
Tor1A promoter
(rat model) 		NA NA NA ↓ Latency to fall
at training
sessions
( 2 months -
male)78		 ↑ Transversal time
3,5 cm round beam
(2months-male)78		 ↑ Variation of step
length (hind limb)
(11months male- )78		 Abnormal protein localization of
human torsinAΔE to nuclear
envelope (cortex, hippocampus,
striatum, olfactory bulb,
substantia nigra)(2 months-
male)78

Altered nuclear envelope
structure in cortex and striatum
( 3 months- male)78		 Limb grasping and clasping (11 months-male)

Impaired LTD and SD in medium spiny neurons (8-12
weeks old-male)78
Human TH promoter
fragment (transgene
  expression in
dopaminergic neurons
of midbrain) 		TH- htorsinAΔE:
Not affected DA at
baseline and ↓ DA
by cocaine in
striatum (male)

TH-htorsinA mice:
↑ DA release by
cocaine in
striatum76		 TH- htorsinAΔEmice:
Normal DA and DOPAC in
striatum

TH-hTorsinA mice:
↓ DA and ↓ DOPAC in
striatum
(2.5 months-female)76		 TH- htorsinAΔE
mice:
Normal baseline
locomotion

TH-htorsinA mice:
↓ Baseline
locomotion
 (4-10months
male)76		 Not affected
(2,4,6 months
male/female)76		 TH- htorsinAΔE
mice:
↑ Transversal time
and slips
male/female)76		 NA NA

Abbreviations: 5-HIAA (5-hydroxyindoleacetic acid), 5-HT (5-hydroxytryptophan), AMPH (amphetamine), Chls (cholinergic interneurons), DA (dopamine), DAT (DA transporter), DOPAC (3, 4-dihydroxyphenylacetic acid), D2R ( dopamine receptor type 2), HVA (homovanillic acid), htorsinAΔE (human wild-type torsinA), htorsinAAE (human mutant torsinA with a GAG deletion), LTD (long-term depression, NA (Not analyzed), PPN (pedunculopontine nucleus), PAG (periaqueductal gray), RGS9 (Regulator of G-protein signaling 9), SD (synaptic depotentiation),TH (tyrosine hydroxylase), VMAT2 (vesicular monoamine transporter).