Sensory functions in dystonia: Insights from behavioral studies

Movement Disorders

Volumn 24, Issue 10, 2009, Pages 1427-1436

  Tinazzi, Michele ^a,b   Fiorio, Mirta ^a   Fiaschi, Antonio ^a   Rothwell, John C ^c   Bhatia, Kailash P ^c  

^a UNIVERSITY OF VERONA   (Italy)

^b BORGO TRENTO HOSPITAL   (Italy)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Dystonia; DYT1 gene; Endophenotype; Mental rotation; Sensory system; Temporal discrimination

Indexed keywords

GENE PRODUCT; PROTEIN DYT1; UNCLASSIFIED DRUG;

AUDITORY STIMULATION; BASAL GANGLION; CERVICAL DYSTONIA; DYSTONIA; FOCAL HAND DYSTONIA; GENE MUTATION; GENETIC TRAIT; HUMAN; MENTAL ROTATION; MOTOR PERFORMANCE; MOVEMENT PERCEPTION; ONSET AGE; PATHOPHYSIOLOGY; PERCEPTIVE THRESHOLD; PHENOTYPE; PRIORITY JOURNAL; REVIEW; ROTATION; SENSORIMOTOR FUNCTION; SENSORY DYSFUNCTION; SOMATOSENSORY CORTEX; SOMATOSENSORY STIMULATION; SPATIAL DISCRIMINATION; SPATIAL SUMMATION; TACTILE STIMULATION; TEMPORAL SUMMATION;

ANIMALS; BEHAVIOR; DYSTONIA; HUMANS; MOVEMENT; SENSATION DISORDERS;

EID: 68449104815     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22490     Document Type: Review

References (101)

1. Bressman SB. Dystonia. Curr Opin Neurol 1998;11:363-372.
2. Fahn S, Bressman SB, Marsden CD. Classification of dystonia. In: Fahn S, Marsden CD, DeLong MR, editors. Advances in neurology, Vol.78. Philadelphia: Lippincott-Raven, 1998. p 1-10.
3. Hallett M. Physiology of dystonia. In: Fahn S, Marsden CD, DeLong MR, editors. Advances in neurology, Vol. 78. Philadelphia: Lippincott-Raven, 1998. p 11-18.
4. Berardelli A, Rothwell JC, Hallett M, Thompson PD, Manfredi M, Marsden CD. The pathophysiology of primary dystonia. Brain 1998;121:1195-1212.
5. Bares M, Rektor I. Basal ganglia involvement in sensory and cognitive processing. A depth electrode CNV study in human subjects. Clin Neurophysiol 2001;112:2022-2030.
6. Jahanshahi M, Rowe J, Saleem T, et al. Striatal contribution to cognition: working memory and executive function in Parkinson's disease before and after unilateral posteroventral pallidotomy. J Cogn Neurosci 2002;14:298-310.
7. Koechlin E, Danek A, Burnod Y, Grafman J. Medial prefrontal and subcortical mechanisms underlying the acquisition of motor and cognitive action sequences in humans. Neuron 2002;35: 371-381.
8. Graziano MS, Gross CG. A bimodal map of space: somatosensory receptive fields in the macaque putamen with corresponding visual receptive fields. Exp Brain Res 1993;97:96-109.
9. Graziano MS, Yap GS, Gross CG. Coding of visual space by premotor neurons. Science 1994;266:1054-1057.
10. Ivry RB. The representation of temporal information in perception and motor control. Curr Opin Neurobiol 1996;6:851-857.
11. Meck WH. Neuropharmacology of timing and time perception. Brain Res Cogn Brain Res 1996;3:227-242.
12. Harrington DL, Haaland KY, Hermanowicz N. Temporal processing in the basal ganglia. Neuropsychology 1998;12:3-12.
13. Harrington DL, Haaland KY, Knight RT. Cortical networks underlying mechanisms of time perception. J Neurosci 1998;18: 1085-1095.
14. Rao SM, Mayer AR, Harrington DL. The evolution of brain activation during temporal processing. Nat Neurosci 2001;4: 317-323.
15. Dreher JC, Grafman J. The roles of the cerebellum and basal ganglia in timing and error prediction. Eur J Neurosci 2002;16: 1609-1619.
16. Pastor MA, Day BL, Macaluso E, Friston KJ, Frackowiak RS. The functional neuroanatomy of temporal discrimination. J Neurosci 2004;24:2585-2591.
17. Pastor MA, Macaluso E, Day BL, Frackowiak RS. The neural basis of temporal auditory discrimination. Neuroimage 2006;30: 512-520.
18. Jahanshahi M, Jones CR, Dirnberger G, Frith CD. The substantia nigra pars compacta and temporal processing. J Neurosci 2006;26:12266-12273.
19. Kosslyn SM, DiGirolamo GJ, Thompson WL, Alpert NM. Mental rotation of objects versus hands: neural mechanisms revealed by positron emission tomography. Psychophysiology 1998;35: 151-161.
20. Vingerhoets G, de Lange F P, Vandemaele P, Deblaere K, Achten E. Motor imagery in mental rotation: an fMRI study. Neuroimage 2002;17:1623-1633.
21. Wolbers T, Weiller C, Buchel C. Contralateral coding of imagined body parts in the superior parietal lobe. Cereb Cortex 2003;13:392-399.
22. de Lange FP, Hagoort P, Toni I. Neural topography and content of movement representations. J Cogn Neurosci 2005;17:97-112.
23. Kühn AA, Doyle L, Pogosyan A, et al. Modulation of beta oscillations in the subthalamic area during motor imagery in Parkinson's disease. Brain 2006;129:695-706.
24. Tinazzi M, Frasson E, Bertolasi L, Fiaschi A, Aglioti S. Temporal discrimination of somesthetic stimuli is impaired in dystonic patients. Neuroreport 1999;10:1547-1550.
25. Tinazzi M, Fiaschi A, Frasson E, Fiorio M, Cortese F, Aglioti SM. Deficits of temporal discrimination in dystonia are independent from the spatial distance between the loci of tactile stimulation. Mov Disord 2002;17:333-338.
26. Tinazzi M, Fiorio M, Bertolasi L, Aglioti SM. Timing of tactile and visuo-tactile events is impaired in patients with cervical dystonia. J Neurol 2004;25:85-90.
27. Bara-Jimenez W, Shelton P, Sanger TD, Hallett M. Sensory discrimination capabilities in patients with focal hand dystonia. Ann Neurol 2000;47:377-380.
28. Sanger TD, Tarsy D, Pascual-Leone A. Abnormalities of spatial and temporal sensory discrimination in writer's cramp. Mov Disord 2001;16:94-99.
29. Aglioti SM, Fiorio M, Forster B, Tinazzi M. Temporal discrimination of cross-modal and unimodal stimuli in generalized dystonia. Neurology 2003;60:782-785.
30. Fiorio M, Tinazzi M, Bertolasi L, Aglioti SM. Temporal processing of visuotactile and tactile stimuli in writer's cramp. Ann Neurol 2003;53:630-635.
31. Fiorio M, Gambarin M, Valente EM, et al. Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? Brain 2007;130:134-142.
32. Fiorio M, Tinazzi M, Scontini A, et al. Tactile temporal discrimination in patients with blepharospasm. J Neurol Neurosurg Psychiatry 2008;79:796-798.
33. Tamura Y, Matsuhashi M, Lin P, Ou B, Vorback S, Kakigi R, Hallett M. Impaired intracortical inhibition in the primary somatosensory cortex in focal hand distonia. Mov Disord 2008; 2008:558-565.
34. Bara-Jimenez W, Shelton P, Hallett M. Spatial discrimination is abnormal in focal hand dystonia. Neurology 2000;55:1869-1873.
35. van Boven RW. Spatial discrimination is abnormal in focal hand dystonia. Neurology 2001;57:370.
36. Zeuner KE, Bara-Jimenez W, Noguchi PS, Goldstein SR, Dambrosia JM, Hallett M. Sensory training for patients with focal hand dystonia. Ann Neurol 2002;51:593-598.
37. Molloy FM, Carr TD, Zeuner KE, Dambrosia JM, Hallett M. Abnormalities of spatial discrimination in focal and generalized dystonia. Brain 2003;126:2175-2182.
38. Peller M, Zeuner KE, Munchau A, et al. The basal ganglia are hyperactive during the discrimination of tactile stimuli in writer's cramp. Brain 2006;129:2697-2708.
39. Grunewald RA, Yoneda Y, Shipman M, Sagar HJ. Idiopathic focal dystonia: a disorder of muscle spindle afferent processing? Brain 1997;120:2179-2185.
40. Yoneda Y, Rome S, Sagar HJ, Grunewald RA. Abnormal perception of the tonic vibration reflex in idiopathic focal dystonia. Eur J Neurol 2000;7:529-533.
41. Rome S, Grunewald RA. Abnormal perception of vibration-induced illusion of movement in dystonia. Neurology 1999;53: 1794-1800.
42. Frima N, Rome SM, Grunewald RA. The effect of fatigue on abnormal vibration induced illusion of movement in idiopathic focal distonia. J Neurol Neurosurg Psychiatry 2003;74:1154-1156.
43. Fiorio M, Tinazzi M, Aglioti SM. Selective impairment of hand mental rotation in patients with focal hand dystonia. Brain 2006;129:47-54.
44. Fiorio M, Tinazzi M, Ionta S, et al. Mental rotation of body parts and objects: evidence from idiopathic cervical dystonia. Neuropsychologia 2007;45:2346-2354.
45. Fiorio M, Gambarin M, Defazio G, et al. Impaired movement representation in manifesting and non-manifesting DYT1 carriers. Clin Neurophysiol 2008;119/8:1864-1869.
46. Ghilardi MF, Carbon M, Silvestri G, et al. Impaired sequence learning in carriers of the DYT1 dystonia mutation. Ann Neurol 2003; 54:102-109.
47. Tinazzi M, Fiorio M, Stanzani C, et al. Temporal discrimination of two passive movements in writer's cramp. Mov Disord 2006; 21:1131-1135.
48. Hallett M. Is dystonia a sensory disorder? Ann Neurol 1995;38: 139-140.
49. Abbruzzese G, Berardelli A. Sensorimotor integration in movement disorders. Mov Disord 2003;18:231-240.
50. Tinazzi M, Rosso T, Fiaschi A. Role of the somatosensory system in primary dystonia. Mov Disord 2003;18:605-622.
51. Lacruz F, Artieda J, Pastor MA, Obeso JA. The anatomical basis of somaesthetic temporal discrimination in humans. J Neurol Neurosurg Psychiatry 1991;54:1077-1081.
52. Artieda J, Pastor MA, Lacruz F, Obeso JA. Temporal discrimination is abnormal in Parkinson's disease. Brain 1992;115:199-210.
53. Tinazzi M, Stanzani C, Fiorio M, et al. Temporal discrimination of two passive movements in humans: a new psychophysical approach to assess kinaesthesia. Exp Brain Res 2005;166:184-189.
54. Byl NN, Wilson F, Merzenich M, et al. Sensory dysfunction associated with repetitive strain injuries of tendinitis and focal hand dystonia: a comparative study. J Orthop Sports Phys Ther 1996;23:234-244.
55. Burke RE, Fahn S, Marsden CD, Bressman SB, Moskowitz C, Friedman J. Validity and reliability of a rating scale for the primary torsion dystonias. Neurology 1985;35:73-77.
56. Lim VK, Bradshaw JL, Nicholls ME, Altenmuller E. Perceptual differences in sequential stimuli across patients with musician's cramp and writer's cramp. Mov Disord 2003;18:1286-1293.
57. Kaji R, Rothwell JC, Katayama M, et al. Tonic vibration reflex and muscle afferent block in writer's cramp. Ann Neurol 1995; 38:155-162.
58. Walsh R, Hutchinson M. Molding the sensory cortex: spatial acuity improves after botulinum toxin for cervical dystonia. Mov Disord 2007;22:2443-2446.
59. Meunier S, Garnero L, Ducorps A, et al. Human brain mapping in dystonia reveals both endophenotypic traits and adaptive reorganization. Ann Neurol 2001;50:521-527.
60. Elbert T, Candia V, Altenmuller E, et al. Alteration of digital representations in somatosensory cortex in focal hand dystonia. Neuroreport 1998;9:3571-3575.
61. Bara-Jimenez W, Catalan MJ, Hallet M, Gerloff C. Abnormal somatosensory homunculus in dystonia of the hand. Ann Neurol 1998;44:828-831.
62. Vitek JL, Chockkan V, Zang JU, et al. Neuronal activity in the basal ganglia in patients with generalized dystonia and hemiballismus. Ann Neurol 1999;46:22-35.
63. Lenz FA, Jaeger CJ, Seike MS, et al. Thalamic single neuron activity in patients with dystonia: dystonia-related activity and somatic sensory organization. J Neurophysiol 1999;82:2372-2392.
64. Lenz FA, Byl NN. Reorganization in the cutaneous core of the human thalamic principal somatic sensory nucleus (Ventral caudal) in patients with dystonia. J Neurophysiol 1999;82:3204-3212.
65. Byl NN, Merzenich M, Wilson WM. A primate genesis model of focal dystonia and repetitive strain injury: learning-induced dedifferentiation of the representation of the hand in the primary somatosensory cortex in adult monkeys. Neurology 1996; 47:508-520.
66. Topp KS, Byl NN. Movement dysfunction following repetitive hand opening and closing: anatomical analysis in owl monkey. Mov Disord 1999;14:295-306.
67. O'Dwyer JP, O'Riordan S, Saunders-Pullman R, et al. Sensory abnormalities in unaffected relatives in familial adult-onset dystonia. Neurology 2005;65:938-940.
68. Walsh R, O'Dwyer JP, Sheick IH, O'Riordan S, Lynch T, Hutchinson M. Sporadic adult onset dystonia: sensory abnormalities as an endophenotype in unaffected relatives. J Neurol Neurosurg Psychiatry 2007;78:980-983.
69. Frima N, Nasir J, Grünewald RA. Abnormal vibration-induced illusion of movement in idiopathic focal dystonia: an endophenotypic marker? Mov Disord 2008;23:373-377.
70. Ozelius LJ, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genet 1997;17:40-48.
71. Valente EM, Warner TT, Jarman PR, et al. The role of DYT1 in primary torsion dystonia in Europe. Brain 1998;121:2335-2339.
72. Nemeth AH. The genetics of primary dystonias and related disorders. Brain 2002;125:695-721.
73. Saunders-Pullman R, Shriberg J, Shanker V, Bressman SB. Penetrance and expression of dystonia genes. Adv Neurol 2004;94: 121-125.
74. Eidelberg D, Moeller JR, Antonini A, et al. Functional brain networks in DYT1 dystonia. Ann Neurol 1998;44:303-312.
75. Trošt M, Carbon M, Edwards C, et al. Primary dystonia: is abnormal functional brain architecture linked to genotype? Ann Neurol 2002;52:853-856.
76. Edwards MJ, Huang YZ, Wood NW, Rothwell JC, Bhatia KP. Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation. Brain 2003;126:2074-2080.
77. Carbon M, Kingsley PB, Su S, et al. Microstructural white matter changes in carriers of the DYT1 gene mutation. Ann Neurol 2004;56:283-286.
78. Duncombe ME, Bradshaw JL, Iansek R, Phillips JG. Parkinsonian patients without dementia or depression do not suffer from bradyphrenia as indexed by performance in mental rotation tasks with and without advance information. Neuropsychologia 1994;32:1383-1396.
79. Parsons LM. Temporal and kinematic properties of motor behavior reflected in mentally simulated action. J Exp Psychol Hum Percept Perform 1994;20:709-730.
80. Parsons LM, Fox PT, Downs JH, et al. Use of implicit motor imagery for visual shape discrimination as revealed by PET. Nature 1995;375:54-58.
81. Bonda E, Petrides M, Frey S, Evans A. Neural correlates of mental transformations of the body-in-space. Proc Natl Acad Sci USA 1995;92:11180-11184.
82. Alivisatos B, Petrides M. Functional activation of the human brain during mental rotation. Neuropsychologia 1997;35:111-118.
83. Ganis G, Keenan JP, Kosslyn SM, Pascual-Leone A. Transcranial magnetic stimulation of primary motor cortex affects mental rotation. Cereb Cortex 2000;10:175-180.
84. Sirigu A, Duhamel JR. Motor and visual imagery as two complementary but neurally dissociable mental processes. J Cogn Neurosci 2001;13:910-919.
85. Dauer WT, Burke RE, Greene P, Fahn, S. Current concepts on the clinical features, aetiology and management of idiopathic cervical dystonia. Brain 1998;121:547-560.
86. Karnath HO, Konczak J, Dichgans J. Effect of prolonged neck muscle vibration on lateral head tilt in severe spasmodic torticollis. J Neurol Neurosurg Psychiatry 2000;69:658-660.
87. Sathian K, Zangaladze A, Green J, Vitek JL, DeLong MR. Tactile spatial acuity and roughness discrimination: impairments due to aging and Parkinson's disease. Neurology 1997;49:168-177.
88. Zia S, Cody F, O'Boyle D. Joint position sense is impaired in Parkinson's disease. Ann Neurol 2000;47:218-228.
89. Maschke M, Tuite PJ, Pickett K, Wachter T, Konczak J. The effect of subthalamic nucleus stimulation on kinesthesia in Parkinson's disease. J Neurol Neurosurg Psychiatry 2005;76:569-571.
90. Dominey P, Decety J, Broussolle E, Chazot G, Jeannerod M. Motor imagery of a lateralized sequential task is asymmetrically slowed in hemi-Parkinson's patients. Neuropsychologia 1995; 33:727-741.
91. Lee AC, Harris JP, Calvert JE. Impairments of mental rotation in Parkinson's disease. Neuropsychologia 1998;36:109-114.
92. Amick MM, Schendan HE, Ganis G, Cronin-Golomb A. Frontostriatal circuits are necessary for visuomotor transformation: mental rotation in Parkinson's disease. Neuropsychologia 2006; 44:339-349.
93. Elmich RC, de Lange FP, Bloem BR, Toni I. Cerebral compensation during motor imagery in Parkinson's disease. Neuropsychologia 2007;45:2201-2215.
94. Quartarone A, Bagnato S, Rizzo V, et al. Abnormal associative plasticity of the human motor cortex in writer's cramp. Brain 2003;126:2586-2596.
95. Quartarone A, Rizzo V, Bagnato S, et al. Homeostatic-like plasticity of the primary motor hand area is impaired in focal hand dystonia. Brain 2005;128:1943-1950.
96. Priori A, Pesenti A, Cappellari G, Scarlato G, Barbieri S. Limb immobilization for the treatment of focal occupational dystonia. Neurology 2001;57:405-409.
97. Zeuner KE, Hallett M. Sensory training as treatment for focal hand dystonia: a 1-year follow-up. Mov Disord 2003;18:1044-1047.
98. Candia V, Schafer T, Taub E, Rau H, Altenmuller E, Rockstroh B, Elbert T. Sensory motor retuning: a behavioral treatment for focal hand dystonia of pianists and guitarists. Arch Phys Med Rehabil 2002;83:1342-1348.
99. Candia V, Wienbruch C, Elbert T, Rockstroh B, Ray W. Effective behavioral treatment of focal hand dystonia in musicians alters somatosensory cortical organization. Proc Natl Acad Sci USA 2003;100:7942-7946.
100. Tinazzi M, Farina S, Bhatia K, et al. TENS for the treatment of writer's cramp dystonia: a randomized, placebo-controlled study. Neurology 2005;64:1946-1948.
101. Tinazzi M, Zarattini S, Valeriani M, et al. Effects of transcutaneous electrical nerve stimulation on motor cortex excitability in writer's cramp: neurophysiological and clinical correlations. Mov Disord 2006;21:1131-1135.