New genetic insights highlight 'old' ideas on motor dysfunction in dystonia

Trends in Neurosciences

Volumn 36, Issue 12, 2013, Pages 717-725

  Goodchild, Rose E ^a   Grundmann, Kathrin ^b   Pisani, Antonio ^c,d  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d IRCCS FONDAZIONE SANTA LUCIA   (Italy)

Author keywords

Dopamine; Dystonia; GNAL G (olf); mTOR; Signal transduction; Striatum

Indexed keywords

BOTULINUM TOXIN; DOPAMINE; GUANINE NUCLEOTIDE BINDING PROTEIN; LEVODOPA; RAPAMYCIN; ZINC FINGER PROTEIN;

BRAIN DEPTH STIMULATION; CORPUS STRIATUM; DOMINANT INHERITANCE; DYSTONIA; GENE IDENTIFICATION; GENE MUTATION; GENETICS; HUMAN; MOTOR DYSFUNCTION; NERVE CELL PLASTICITY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; SUBSTITUTION THERAPY; TORSION DYSTONIA;

DOPAMINE; DYSTONIA; GNAL/GΑ(OLF); MTOR; SIGNAL TRANSDUCTION; STRIATUM;

CORPUS STRIATUM; DOPAMINE; DYSTONIA; GTP-BINDING PROTEIN ALPHA SUBUNITS; HUMANS; LEVODOPA; MOLECULAR CHAPERONES; MUTATION; TOR SERINE-THREONINE KINASES;

EID: 84888862211     PISSN: 01662236     EISSN: 1878108X     Source Type: Journal    
DOI: 10.1016/j.tins.2013.09.003     Document Type: Review

References (78)

1. Altenmuller E., Jabusch H.C. Focal dystonia in musicians: phenomenology, pathophysiology and triggering factors. Eur. J. Neurol. 2010, 17(Suppl. 1):31-36.
2. Ozelius L.J., et al. Milestones in dystonia. Mov. Disord. 2011, 26:1106-1126.
3. Tanabe L.M., et al. Primary dystonia: molecules and mechanisms. Nat. Rev. Neurol. 2009, 5:598-609.
4. Breakefield X.O., et al. The pathophysiological basis of dystonias. Nat. Rev. Neurosci. 2008, 9:222-234.
5. Ramdhani R.A., Simonyan K. Primary dystonia: conceptualizing the disorder through a structural brain imaging lens. Tremor Other Hyperkinet. Mov. (N.Y.) 2013, 3. tre-03-152-3638-4.
6. Filip P., et al. Dystonia and the cerebellum: a new field of interest in movement disorders?. Clin. Neurophysiol. 2013, 124:1269-1276.
7. Beck S., Hallett M. Surround inhibition in the motor system. Exp. Brain Res. 2011, 210:165-172.
8. Niethammer M., et al. Hereditary dystonia as a neurodevelopmental circuit disorder: evidence from neuroimaging. Neurobiol. Dis. 2011, 42:202-209.
9. Stamelou M., et al. The non-motor syndrome of primary dystonia: clinical and pathophysiological implications. Brain 2012, 135:1668-1681.
10. Hallett M. Pathophysiology of writer's cramp. Hum. Mov. Sci. 2006, 25:454-463.
11. Quartarone A., et al. Task-specific hand dystonia: can too much plasticity be bad for you?. Trends Neurosci. 2006, 29:192-199.
12. Blake D.T., et al. Sensory representation abnormalities that parallel focal hand dystonia in a primate model. Somatosens. Mot. Res. 2002, 19:347-357.
13. Petrucci S., Valente E.M. Genetic issues in the diagnosis of dystonias. Front. Neurol. 2013, 4:34.
14. Ozelius L.J., et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat. Genet. 1997, 17:40-48.
15. Goodchild R.E., et al. Loss of the dystonia-associated protein TorsinA selectively disrupts the neuronal nuclear envelope. Neuron 2005, 48:923-932.
16. Opal P., et al. Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm. Mov. Disord. 2002, 17:339-345.
17. Fuchs T., et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat. Genet. 2009, 41:286-288.
18. Asmus F., Gasser T. Dystonia-plus syndromes. Eur. J. Neurol. 2010, 17(Suppl. 1):37-45.
19. Ichinose H., et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat. Genet. 1994, 8:236-242.
20. Clot F., et al. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain 2009, 132:1753-1763.
21. Charlesworth G., et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am. J. Hum. Genet. 2012, 91:1041-1050.
22. Fuchs T., et al. Mutations in GNAL cause primary torsion dystonia. Nat. Genet. 2012, 45:88-92.
23. Vemula S.R., et al. Role of Galpha(olf) in familial and sporadic adult-onset primary dystonia. Hum. Mol. Genet. 2013, 22:2510-2519.
24. Lohmann K., et al. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann. Neurol. 2012, 10.1002/ana.23829.
25. Hersheson J., et al. Mutations in the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia. Ann. Neurol. 2012, 10.1002/ana.23832.
26. - channels. J. Physiol. 2009, 587:2127-2139.
27. Zhuang X., et al. G(olf)alpha mediates dopamine D1 receptor signaling. J. Neurosci. 2000, 20:RC91.
28. Kull B., et al. Adenosine A(2A) receptors are colocalized with and activate g(olf) in rat striatum. Mol. Pharmacol. 2000, 58:771-777.
29. Herve D., et al. Galpha(olf) levels are regulated by receptor usage and control dopamine and adenosine action in the striatum. J. Neurosci. 2001, 21:4390-4399.
30. Corvol J.C., et al. Galpha(olf) is necessary for coupling D1 and A2a receptors to adenylyl cyclase in the striatum. J. Neurochem. 2001, 76:1585-1588.
31. Gerfen C.R. The neostriatal mosaic: compartmentalization of corticostriatal input and striatonigral output systems. Nature 1984, 311:461-464.
32. Graybiel A.M. Neurotransmitters and neuromodulators in the basal ganglia. Trends Neurosci. 1990, 13:244-254.
33. Gerfen C.R., et al. D1 and D2 dopamine receptor-regulated gene expression of striatonigral and striatopallidal neurons. Science 1990, 250:1429-1432.
34. Schiffmann S.N., et al. Adenosine A2A receptors and basal ganglia physiology. Prog. Neurobiol. 2007, 83:277-292.
35. Surmeier D.J., Graybiel A.M. A feud that wasn't: acetylcholine evokes dopamine release in the striatum. Neuron 2012, 75:1-3.
36. Tritsch N.X., Sabatini B.L. Dopaminergic modulation of synaptic transmission in cortex and striatum. Neuron 2012, 76:33-50.
37. Rivera A., et al. Molecular phenotype of rat striatal neurons expressing the dopamine D5 receptor subtype. Eur. J. Neurosci. 2002, 16:2049-2058.
38. Rashid A.J., et al. D1-D2 dopamine receptor heterooligomers with unique pharmacology are coupled to rapid activation of Gq/11 in the striatum. Proc. Natl. Acad. Sci. U.S.A. 2007, 104:654-659.
39. Perreault M.L., et al. The dopamine D1-D2 receptor heteromer in striatal medium spiny neurons: evidence for a third distinct neuronal pathway in basal ganglia. Front. Neuroanat. 2011, 5:31.
40. Ferré S., et al. Adenosine A2A-dopamine D2 receptor-receptor heteromers. Targets for neuro-psychiatric disorders. Parkinsonism Relat. Disord. 2004, 10:265-271.
41. Bagetta V., et al. Dopamine-dependent long-term depression is expressed in striatal spiny neurons of both direct and indirect pathways: implications for Parkinson's disease. J. Neurosci. 2011, 31:12513-12522.
42. Cui G., et al. Concurrent activation of striatal direct and indirect pathways during action initiation. Nature 2013, 494:238-242.
43. Furukawa Y., et al. Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia. Neurology 1999, 53:1032-1041.
44. Corvol J.C., et al. Quantitative changes in Galphaolf protein levels, but not D1 receptor, alter specifically acute responses to psychostimulants. Neuropsychopharmacology 2007, 32:1109-1121.
45. Perlmutter J.S., Mink J.W. Dysfunction of dopaminergic pathways in dystonia. Adv. Neurol. 2004, 94:163-170.
46. Wichmann T. Commentary: dopaminergic dysfunction in DYT1 dystonia. Exp. Neurol. 2008, 212:242-246.
47. Carbon M., et al. Abnormal striatal and thalamic dopamine neurotransmission: genotype-related features of dystonia. Neurology 2009, 72:2097-2103.
48. Asanuma K., et al. Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation. Neurology 2005, 64:347-349.
49. Napolitano F., et al. Dopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystonia. Neurobiol. Dis. 2010, 38:434-445.
50. Grundmann K., et al. Generation of a novel rodent model for DYT1 dystonia. Neurobiol. Dis. 2012, 47:61-74.
51. Martella G., et al. Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine. Brain 2009, 132:2336-2349.
52. Dang M.T., et al. An anticholinergic reverses motor control and corticostriatal LTD deficits in Dyt1 DeltaGAG knock-in mice. Behav. Brain Res. 2012, 226:465-472.
53. Jokhi V., et al. Torsin mediates primary envelopment of large ribonucleoprotein granules at the nuclear envelope. Cell Rep. 2013, 3:988-995.
54. Speese S.D., et al. Nuclear envelope budding enables large ribonucleoprotein particle export during synaptic Wnt signaling. Cell 2012, 149:832-846.
55. Wakabayashi-Ito N., et al. dtorsin, the Drosophila ortholog of the early-onset dystonia TOR1A (DYT1), plays a novel role in dopamine metabolism. PLoS ONE 2011, 6:e26183.
56. Roussigne M., et al. THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies. Oncogene 2003, 22:2432-2442.
57. Park S.K., et al. Par-4 links dopamine signaling and depression. Cell 2005, 122:275-287.
58. Hasbi A., et al. Heteromerization of dopamine D2 receptors with dopamine D1 or D5 receptors generates intracellular calcium signaling by different mechanisms. Curr. Opin. Pharmacol. 2010, 10:93-99.
59. Wickremaratchi M.M., et al. The motor phenotype of Parkinson's disease in relation to age at onset. Mov. Disord. 2011, 26:457-463.
60. Santini E., et al. Parkinson's disease: levodopa-induced dyskinesia and signal transduction. FEBS J. 2008, 275:1392-1399.
61. Santini E., et al. Dopamine- and cAMP-regulated phosphoprotein of 32-kDa (DARPP-32)-dependent activation of extracellular signal-regulated kinase (ERK) and mammalian target of rapamycin complex 1 (mTORC1) signaling in experimental parkinsonism. J. Biol. Chem. 2012, 287:27806-27812.
62. Santini E., et al. Inhibition of mTOR signaling in Parkinson's disease prevents L-DOPA-induced dyskinesia. Sci. Signal. 2009, 2:ra36.
63. Decressac M., Björklund A. mTOR inhibition alleviates L-DOPA-induced dyskinesia in Parkinsonian rats. J. Parkinsons Dis. 2013, 3:13-17.
64. Subramaniam S., et al. Rhes, a striatal-enriched small G protein, mediates mTOR signaling and L-DOPA-induced dyskinesia. Nat. Neurosci. 2012, 15:191-193.
65. Hoeffer C.A., Klann E. mTOR signaling: at the crossroads of plasticity, memory and disease. Trends Neurosci. 2010, 33:67-75.
66. Han J.M., Sahin M. TSC1/TSC2 signaling in the CNS. FEBS Lett. 2011, 585:973-980.
67. Yger M., Girault J.A. DARPP-32, jack of all trades... master of which?. Front. Behav. Neurosci. 2011, 5:56.
68. Lein E.S., et al. Genome-wide atlas of gene expression in the adult mouse brain. Nature 2007, 445:168-176.
69. Gerfen C.R., Surmeier D.J. Modulation of striatal projection systems by dopamine. Annu. Rev. Neurosci. 2011, 34:441-466.
70. Sunahara R.K., et al. Cloning of the gene for a human dopamine D5 receptor with higher affinity for dopamine than D1. Nature 1991, 350:614-619.
71. Farde L., et al. Positron emission tomographic analysis of central D1 and D2 dopamine receptor occupancy in patients treated with classical neuroleptics and clozapine. Relation to extrapyramidal side effects. Arch. Gen. Psychiatry 1992, 49:538-544.
72. Kapur S., et al. Relationship between dopamine D(2) occupancy, clinical response, and side effects: a double-blind PET study of first-episode schizophrenia. Am. J. Psychiatry 2000, 157:514-520.
73. Nordstrom A.L., et al. Central D2-dopamine receptor occupancy in relation to antipsychotic drug effects: a double-blind PET study of schizophrenic patients. Biol. Psychiatry 1993, 33:227-235.
74. Teo J.T., et al. Tardive dyskinesia is caused by maladaptive synaptic plasticity: a hypothesis. Mov. Disord. 2012, 27:1205-1215.
75. Costa-Mattioli M., et al. Translational control of long-lasting synaptic plasticity and memory. Neuron 2009, 61:10-26.
76. Richter J.D., Klann E. Making synaptic plasticity and memory last: mechanisms of translational regulation. Genes Dev. 2009, 23:1-11.
77. Li N., et al. mTOR-dependent synapse formation underlies the rapid antidepressant effects of NMDA antagonists. Science 2010, 329:959-964.
78. Santini E., Klann E. Dysregulated mTORC1-dependent translational control: from brain disorders to psychoactive drugs. Front. Behav. Neurosci. 2011, 5:76.