Pathophysiology of dystonia

Current Opinion in Neurology

Volumn 22, Issue 4, 2009, Pages 406-413

  Vidailhet, Marie ^a   Grabli, David ^a   Roze, Emmanuel ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Animal studies; Basal ganglia; Cerebellum; Dystonia; Genetics; MRI; Putamen

Indexed keywords

LEVODOPA;

BASAL GANGLION; BRAIN CORTEX; BRAIN DYSFUNCTION; BRAIN MATURATION; CEREBELLUM; CORPUS STRIATUM; DISEASE MODEL; DOPAMINERGIC SYSTEM; DYSTONIA; ENDOPHENOTYPE; ENVIRONMENTAL FACTOR; GENETIC ANALYSIS; GENOTYPE; HUMAN; NERVE CELL PLASTICITY; NERVE EXCITABILITY; NEUROIMAGING; NEUROPHYSIOLOGY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PHENOTYPE; REVIEW; RISK ASSESSMENT; RISK FACTOR; TISSUE STRUCTURE; WRITER'S CRAMP;

ANIMALS; BRAIN; DISEASE MODELS, ANIMAL; DYSTONIA; HUMANS;

EID: 68449086951     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/WCO.0b013e32832d9ef3     Document Type: Review

References (67)

1. Guehl D, Cuny E, Ghorayeb I, et al. Primate models of dystonia. Prog Neurobiol 2009; 87:118-131.
2. Worbe Y, Baup N, Grabli D, et al. Behavioral and movement disorders induced by local inhibitory dysfunction in primate striatum. Cereb Cortex 2008 [Epub ahead of print].
3. Francois C, Grabli D, McCairn K, et al. Behavioural disorders induced by external globus pallidus dysfunction in primates II. Anatomical study. Brain 2004; 127:2055-2070.
4. Grabli D, McCairn K, Hirsch EC, et al. Behavioural disorders induced by external globus pallidus dysfunction in primates: I. Behavioural study. Brain 2004; 127:2039-2054.
5. Macia F, Escola L, Guehl D, et al. Neuronal activity in the monkey motor thalamus during bicuculline-induced dystonia. Eur J Neurosci 2002; 15: 1353-1362.
6. Guehl D, Burbaud P, Boraud T, Bioulac B. Bicuculline injections into the rostral and caudal motor thalamus of the monkey induce different types of dystonia. Eur J Neurosci 2000; 12:1033-1037.
7. Cuny E, Ghorayeb I, Guehl D, et al. Sensory motor mismatch within the supplementary motor area in the dystonic monkey. Neurobiol Dis 2008; 30:151-161.
8. Akopian G, Crawford C, Beal MF, et al. Decreased striatal dopamine release underlies increased expression of long-term synaptic potentiation at corticostriatal synapses 24 h after 3-nitropropionic-acid-induced chemical hypoxia. J Neurosci 2008; 28:9585-9597.
9. Chiken S, Shashidharan P, Nambu A. Cortically evoked long-lasting inhibition of pallidal neurons in a transgenic mouse model of dystonia. J Neurosci 2008; 28:13967-13977.
10. Pong M, Horn KM, Gibson AR. Pathways for control of face and neck musculature by the basal ganglia and cerebellum. Brain Res Rev 2008; 58:249-264.
11. Sato K, Sumi-Ichinose C, Kaji R, et al. Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia. Proc Natl Acad Sci U S A 2008; 105:12551-12556.
12. Holton JL, Schneider SA, Ganesharajah T, et al. Neuropathology of primary adult-onset dystonia. Neurology 2008; 70:695-699.
13. Wichmann T. Commentary: dopaminergic dysfunction in DYT1 dystonia. Exp Neurol 2008; 212:242-246.
14. Augood SJ, Hollingsworth Z, Albers DS, et al. Dopamine transmission in DYT1 dystonia: a biochemical and autoradiographical study. Neurology 2002; 59:445-448.
15. Furukawa Y, Hornykiewicz O, Fahn S, Kish SJ. Striatal dopamine in early-onset primary torsion dystonia with the DYT1 mutation. Neurology 2000; 54:1193-1195.
16. Balcioglu A, Kim MO, Sharma N, et al. Dopamine release is impaired in a mouse model of DYT1 dystonia. J Neurochem 2007; 102:783-788.
17. Zhao Y, DeCuypere M, LeDoux MS. Abnormal motor function and dopamine neurotransmission in DYT1 DeltaGAG transgenic mice. Exp Neurol 2008; 210:719-730.
18. Sciamanna G, Bonsi P, Tassone A, et al. Impaired striatal D2 receptor function leads to enhanced GABA transmission in a mouse model of DYT1 dystonia. Neurobiol Dis 2009; 34:133-145.
19. Jinnah HA, Hess EJ, Ledoux MS, et al. Rodent models for dystonia research: characteristics, evaluation, and utility. Mov Disord 2005; 20: 283-292.
20. Jinnah HA, Hess EJ. A new twist on the anatomy of dystonia: the basal ganglia and the cerebellum? Neurology 2006; 67:1740-1741.
21. Chen G, Popa LS, Wang X, et al. Low-frequency oscillations in the cerebellar cortex of the tottering mouse. J Neurophysiol 2009; 101: 234-245.
22. Neychev VK, Fan X, Mitev VI, et al. The basal ganglia and cerebellum interact in the expression of dystonic movement. Brain 2008; 131:2499-2509.
23. Hoshi E, Tremblay L, Feger J, et al. The cerebellum communicates with the basal ganglia. Nat Neurosci 2005; 8:1491-1493.
24. Akkal D, Dum RP, Strick PL. Supplementary motor area and presupplementary motor area: targets of basal ganglia and cerebellar output. J Neurosci 2007; 27:10659-10673.
25. Gernert M, Hamann M, Bennay M, et al. Deficit of striatal parvalbumin-reactive GABAergic interneurons and decreased basal ganglia output in a genetic rodent model of idiopathic paroxysmal dystonia. J Neurosci 2000; 20:7052-7058.
26. Hamann M, Richter A, Fink H, Rex A. Altered nicotinamide adenine dinucleotide (NADH) fluorescence in dt sz mutant hamsters reflects differences in striatal metabolism between severe and mild dystonia. J Neurosci Res 2009; 87:776-783.
27. Sander SE, Richter A. Effects of intrastriatal injections of glutamate receptor antagonists on the severity of paroxysmal dystonia in the dtsz mutant. Eur J Pharmacol 2007; 563:102-108.
28. Hamann M, Richter A, Meillasson FV, et al. Age-related changes in parvalbumin-positive interneurons in the striatum, but not in the sensorimotor cortex in dystonic brains of the dt(sz) mutant hamster. Brain Res 2007; 1150:190-199.
29. Hamann M, Bennay M, Gernert M, et al. Decreased density of amygdaloid parvalbumin-positive interneurons and behavioral changes in dystonic hamsters (Mesocricetus auratus). Behav Neurosci 2008; 122:36-43.
30. Kurian MA, Morgan NV, MacPherson L, et al. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology 2008; 70:1623-1629.
31. Schneider SA, Bhatia KP, Hardy J. Complicated recessive dystonia parkinsonism syndromes. Mov Disord 2009; 24:490-498.
32. Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 2009; 65:19-23.
33. Seibler P, Djarmati A, Langpap B, et al. A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. Lancet Neurol 2008; 7:380-381.
34. Klein C. DYT16: a new twist to familial dystonia. Lancet Neurol 2008; 7:192-193. Clear and concise state of the art on DYT16.
35. Camargos S, Scholz S, Simon-Sanchez J, et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol 2008; 7:207-215.
36. Djarmati A, Schneider SA, Lohmann K, et al. Mutations in THAP1 (DYT6) and generalized dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009; 8:447-452.
37. Bressman SB, Raymond D, Fuchs T, et al. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 2009; 8:441-446.
38. Fuchs T, Gavarini S, Saunders-Pullman R, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009; 41:286-288.
39. Tamiya G. Transcriptional dysregulation: a cause of dystonia? Lancet Neurol 2009; 8:416-418.
40. Risch NJ, Bressman SB, Senthil G, Ozelius LJ. Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 2007; 80:1188-1193.
41. Frederic MY, Clot F, Blanchard A, et al. The p. Asp216His TOR1A allele effect is not found in the French population. Mov Disord 2009; 24:919-921.
42. Lee DW, Seo JB, Ganetzky B, Koh YH. DeltaFY mutation in human torsin A induces locomotor disability and abberant synaptic structures in Drosophila. Mol Cells 2009; 27:89-97.
43. Granata A, Watson R, Collinson LM, et al. The dystonia-associated protein torsin A modulates synaptic vesicle recycling. J Biol Chem 2008; 283:7568-7579.
44. Zhao Y, Xiao J, Ueda M, et al. Glial elements contribute to stress-induced torsin A expression in the CNS and peripheral nervous system. Neuroscience 2008; 155:439-453.
45. Roze E, Apartis E, Clot F, et al. Myoclonus-dystonia: clinical and electro-physiologic pattern related to SGCE mutations. Neurology 2008; 70:1010-1016.
46. Guettard E, Portnoi MF, Lohmann-Hedrich K, et al. Myoclonus-dystonia due to maternal uniparental disomy. Arch Neurol 2008; 65:1380-1385.
47. Roze E, Soumare A, Pironneau I, et al. Case-control study of writer's cramp. Brain 2009; 132:756-764.
48. Schmidt A, Jabusch HC, Altenmuller E, et al. Etiology of musician's dystonia: familial or environmental? Neurology 2009; 72:1248-1254.
49. Delmaire C, Vidailhet M, Wassermann D, et al. Diffusion abnormalities in the primary sensorimotor pathways in writer's cramp. Arch Neurol 2009; 66: 502-508.
50. Bonilha L, de Vries PM, Hurd MW, et al. Disrupted thalamic prefrontal pathways in patients with idiopathic dystonia. Parkinsonism Relat Disord 2009; 15:64-67.
51. Carbon M, Kingsley PB, Tang C, et al. Microstructural white matter changes in primary torsion dystonia. Mov Disord 2008; 23:234-239.
52. Delmaire C, Vidailhet M, Elbaz A, et al. Structural abnormalities in the cerebellum and sensorimotor circuit in writer's cramp. Neurology 2007; 69:376-380.
53. Teo JT, van de Warrenburg BP, Schneider SA, et al. Neurophysiological evidence for cerebellar dysfunction in primary focal dystonia. J Neurol Neurosurg Psychiatry 2009; 80:80-83.
54. Carbon M, Ghilardi MF, Argyelan M, et al. Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study. Brain 2008; 131:146-154.
55. Carbon M, Eidelberg D. Abnormal structure-function relationships in hereditary dystonia. Neuroscience 2009 [Epub ahead of print].
56. Draganski B, Schneider SA, Fiorio M, et al. Genotype-phenotype interactions in primary dystonias revealed by differential changes in brain structure. Neuroimage 2009 [Epub ahead of print].
57. Walsh RA, Whelan R, O'Dwyer J, et al. Striatal morphology correlates with sensory abnormalities in unaffected relatives of cervical dystonia patients. J Neurol 2009 [Epub ahead of print].
58. Vasques X, Cif L, Hess O, et al. Prognostic value of globus pallidus internus volume in primary dystonia treated by deep brain stimulation. J Neurosurg 2009; 110:220-228.
59. Quartarone A, Rizzo V, Morgante F. Clinical features of dystonia: a patho-physiological revisitation. Curr Opin Neurol 2008; 21:484-490.
60. Meunier S, Lourenco G, Roze E, et al. Cortical excitability in DYT-11 positive myoclonus dystonia. Mov Disord 2008; 23:761-764.
61. van der Salm SM, van Rootselaar AF, Foncke EM, et al. Normal cortical excitability in Myoclonus-Dystonia: a TMS study. Exp Neurol 2009; 216:300-305.
62. Tamura Y, Ueki Y, Lin P, et al. Disordered plasticity in the primary somatosensory cortex in focal hand dystonia. Brain 2009; 132:749-755.
63. Quartarone A, Morgante F, Sant'angelo A, et al. Abnormal plasticity of sensorimotor circuits extends beyond the affected body part in focal dystonia. J Neurol Neurosurg Psychiatry 2008; 79:985-990.
64. Tinazzi M, Fiorio M, Fiaschi A, et al. Sensory functions in dystonia: Insights from behavioral studies. Mov Disord 2009 [Epub ahead of print].
65. Fiorio M, Gambarin M, Defazio G, Valente EM, et al. Impaired body movement representation in DYT1 mutation carriers. Clin Neurophysiol 2008; 119: 1864-1869.
66. Zeuner KE, Peller M, Knutzen A, et al. Motor re-training does not need to be task specific to improve writer's cramp. Mov Disord 2008; 23:2319-2327.
67. Edwards MJ, Talelli P, Rothwell JC. Clinical applications of transcranial magnetic stimulation in patients with movement disorders. Lancet Neurol 2008; 7:827-840.