Cervical dystonia: Etiology and pathophysiology

Neurologic Clinics

Volumn 26, Issue SUPPL.1, 2008, Pages 9-22

  Singer, Carlos ^a   Velickovic, Miodrag ^b  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMOXAPINE; BOTULINUM TOXIN A; CHLORPROMAZINE; CLOZAPINE; DOPAMINE; FLUPHENAZINE; HALOPERIDOL; METOCLOPRAMIDE; OLANZAPINE; PROCHLORPERAZINE; QUETIAPINE; THIORIDAZINE;

ARTICLE; BASAL GANGLION; BRAIN BLOOD FLOW; BRAIN MAPPING; BRAIN REGION; CERVICAL DYSTONIA; CLINICAL FEATURE; DYSTONIA; ELECTROMYOGRAPHY; EPIDEMIC; EVOKED MUSCLE RESPONSE; EVOKED SOMATOSENSORY RESPONSE; HUMAN; MOTOR CORTEX; NONHUMAN; PARIETAL LOBE; PATHOPHYSIOLOGY; PREVALENCE; PRIORITY JOURNAL; SENSORIMOTOR CORTEX; TARDIVE DYSKINESIA;

HUMANS; NECK INJURIES; TORTICOLLIS;

EID: 46049088121     PISSN: 07338619     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0733-8619(08)80002-3     Document Type: Article

References (115)

1. Chan J., Brin M., and Fahn S. Idiopathic cervical dystonia: clinical characteristics. Mov Disord 66 (1991) 119-126
2. Nutt J., Muenter M., Aronson A., et al. Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord 33 (1988) 188-194
3. Defazio G., Aniello M., Masi G., et al. Frequency of familial aggregation in primary adult-onset cranial cervical dystonia. Neurol Sci 24 (2003) 168-169
4. Jankovic J., Leder S., Warner D., and Schwartz K. Cervical dystonia: clinical findings and associated movement disorders. Neurology 41 (1991) 1088-1091
5. Rondot P., Marchand M., and Dellatolas G. Spasmodic torticollis: review of 220 patients. Can J Neurol Sci 18 (1991) 143-151
6. Stacy M. Idiopathic cervical dystonia: an overview. Neurology 55 Suppl 5 (2000) S2-S8
7. Leube B., Rudnicki D., Ratzlaff T., et al. Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 5 (1996) 1673-1677
8. Leube B., Hendgen T., Kessler K., et al. Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe. Am J Med Genet 74 (1997) 529-532
9. Almasy L., Bressman S., Raymond D., et al. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol 42 (1997) 670-673
10. Leube B., and Auburger G. Questionable role of adult-onset focal dystonia among sporadic dystonia patients. Ann Neurol 44 (1998) 984-985
11. Klein C., Ozelius L., Hagenah J., et al. Search for a founder mutation in idiopathic focal dystonia from Northern Germany. Am J Hum Genet 63 (1998) 1777-1782
12. Lang A., Rogaeva E., Tsuda T., et al. Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurol 336 (1994) 443-447
13. Modi G., Modi M., Martinus I., et al. The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA7) in three Black South African families. Acta Neurol Scand 101 (2000) 177-182
14. Hagenah J., Zuhlke C., Hellenbroich Y., et al. Focal dystonia as a presenting sign of spinocerebellar ataxia 17. Mov Disord 19 (2004) 217-220
15. Kuoppamäki M., Giunti P., Quinn N., et al. Slowly progressive cerebellar ataxia and cervical dystonia: clinical presentation of a new form of spinocerebellar ataxia?. Mov Disord 18 (2003) 200-206
16. Tarsy D. Comparison of acute-and delayed-onset posttraumatic cervical dystonia. Mov Disord 13 (1998) 481-485
17. Thyagarajan D., Kompoliti K., and Ford B. Post-ttraumatic shoulder 'dystonia': persistent abnormal postures of the shoulder after minor trauma. Neurology 51 (1998) 1205-1207
18. Jankovic J. Post-ttraumatic movement disorders: central and peripheral mechanisms. Neurology 44 (1994) 2006-2014
19. Jones A., Brown W., Friston K., et al. Cortical and subcortical localization of response to pain in man using positron emission tomography. Proc Biol Sci 244 (1991) 39-44
20. de Ceballos M., Baker M., Rose S., et al. Do enkephalins in basal ganglia mediate a physiological motor rest mechanism?. Mov Disord 1 (1986) 223-233
21. van Harten P., and Kahn R. Tardive dystonia. Schizophr Bull 25 (1999) 741-748
22. Burke R., Fahn S., Jankovic J., et al. Tardive dystonia: late-oonset and persistent dystonia caused by antipsychotic drugs. Neurology 32 (1982) 1335-1346
23. Giménez-Roldán S., Mateo D., and Bartolomé P. Tardive dystonia and severe tardive dyskinesia. A comparison of risk factors and prognosis. Acta Psychiatr Scand 71 (1985) 488-494
24. Yassa R., Nair V., and Iskandar H. A comparison of severe tardive dystonia and severe tardive dyskinesia. Acta Psychiatr Scand 80 (1989) 155-159
25. Wojcik J., Falk W., Fink J., et al. A review of 32 cases of tardive dystonia. Am J Psychiatry 1148 (1991) 1055-1099
26. van Harten P., Hoek H., and RS K. Acute dystonia induced by drug treatment. BMJ 3319 (1999) 623-626
27. Arnt J., and Skarsfeldt M. Do novel antipsychotics have similar pharmacological characteristics? A review of the evidence. Neuropsychopharmacology 18 (1998) 63-101
28. Bloom F. Neurotransmission and the central nervous system. In: Hardman J., and Limbird L. (Eds). Goodman and Gillman's The Pharmacological Basis of Therapeutics. 10th ed (2001), McGraw-Hill, New York, NY 293-320
29. Rupniak N., Jenner P., and Marsden C. Acute dystonia induced by neuroleptic drugs. Psychopharmacology (Berl) 88 (1986) 403-419
30. Volkow N., Gur R., Wang G., et al. Association between decline in brain dopamine activity with age and cognitive and motor impairment in healthy individuals. Am J Psychiatry 155 (1998) 344-349
31. Naumann M., Pirker W., Reiners K., et al. Imaging the pre-and postsynaptic side of striatal dopaminergic synapses in idiopathic cervical dystonia: a SPECT study using [123I] epidepride and [123I] beta-CCIT. Mov Disord 13 (1998) 319-323
32. Perlmutter J., Stambuk M., Markham J., et al. Decreased [18F] spiperone binding in putamen in dystonia. Adv Neurol 778 (1998) 161-168
33. Perlmutter J., Tempel L., Black K., et al. MPTP induces dystonia and parkinsonism: clues to the pathophysiology of dystonia. Neurology 49 (1997) 1432-1438
34. Nygaard T. Dopa-rresponsive dystonia. Curr Opin Neurol 88 (1995) 310-313
35. Knappskog P., Flatmark T., Mallet J., et al. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (QQ381K) in the tyrosine hydroxylase gene. Hum Mol Genet 4 (1995) 1209-1212
36. Perlmutter J., and Mink J. Dysfunction in dopaminergic pathways in dystonia. Adv Neurol 94 (2004) 163-170
37. Augood S., Hollingsworth Z., et al. Dopamine transmission in DYT1 dystonia: a biochemical and autoradigraphical study. Neurology 59 (2002) 445-448
38. Eidelbberg D., Moelleer J., Ishikawa T., et al. The meta abolic topography of idiopathic to orsion dystonia. Brain 118 (1995) 1473-1484
39. Tempel L., and Perlmutter J. Abnormal cortical responses in patients with writer's cramp. Neurology 43 (1993) 2252-2257
40. Tempel L., and Perlmutter J. Abnormal vibration-induced cerebral blood flow responses in idiopathic dystonia. Brain 113 (1990) 691-707
41. Feiwell R., Black K., McGee-Minnich L., et al. Diminished regional cerebral blood flow response to vibration in patients with blepharospasm. Neurology 52 (1999) 291-297
42. Byl N., McKenzie A., and Nagarajan S. Differences in somatosensory hand organization in a healthy flutist and a flutist with focal hand dystonia: a case report. J Hand Ther 13 (2000) 302-309
43. Reilly J., Hallett M., Cohen L., et al. The N30 component of somatosensory evoked potentials in patients with dystonia. Electroencephalogr Clin Neurophysiol 84 (1992) 243-247
44. Elbert T., Candia V., Altenmuller E., et al. Alterations in digital representations in somatosensory cortex in focal hand dystonia. Neuroreport 16 (1998) 3571-3575
45. Sanger T., Tarsy D., and Pascual-LLeone A. Abnormalities of spatial and temporal sensory discrimination in writer's cramp. Mov Disord 16 (2001) 94-99
46. Bara-Jimenez W., Shelton P., and Hallett M. Spatial discrimination is abnormal in focal hand dystonia. Neurology 55 (2000) 1869-1873
47. Corneil B., Olivier E., Richmond F., et al. Neck muscles in the rhesus monkey.II Electromyographic patterns of activation underlying postures and movements. J Neurophysiol 86 (2001) 1729-1749
48. Deuschl G., Heinen F., Kleedorfer B., et al. Clinical and polymyographic investigation of spasmodic torticollis. J Neurol 239 (1992) 9-15
49. Kañovský P., Streitová H., Dufek J., et al. Lateralization of the P22/N30 precentral cortical component of the median nerve somatosensory evoked potentials is different in patients with a tonic ortremulous form of cervical dystonia. Mov Disord 14 (1999) 642-651
50. Carboncini M., Manzoni D., Strambi S., et al. Impaired agonists recruitment during voluntary arm movements in patients affected by spasmodic torticollis. Arch Ital Biol 142 (2004) 113-124
51. Berardelli A., Rothwell J., Hallett M., et al. The pathophysiology of primary dystonia. Brain 121 (1998) 1195-1212
52. Langlois M., Richer F., and Chouinard S. New perspectives in dystonia. Can J Neurol Sc. 330 Suppl 1 (2003) S34-S44
53. Currá A., Berardelli A., Agostino R., et al. Movement cueing and motor execution in patients with dystonia: a kinematic study. Mov Disord 15 (2000) 103-112
54. Munchau A., Schrag A., Chuang C., et al. Arm tremor in cervical dystonia differs from essential tremor and can be classified by onset age and spread of symptoms. Brain 124 (2001) 1765-1776
55. Berardelli A., Rothwell J., Day B., and Marsden C. Pathophysiology of blepharospasm and oromandibular dystonia. Brain 108 (1985) 593-608
56. Nakashima K., Rothwell J., Thompson P., et al. The blink reflex in patients with idiopathic torsion dystonia. Arch Neurol 47 (1990) 413-416
57. Pauletti G., Berardelli A., Cruccu G., et al. Blink reflex and the masseter inhibitory reflex in patients with dystonia. Mov Disord 8 (1993) 495-500
58. Colebatch J., Di Lazzaro V., Quartarone A., et al. Click-evoked vestibulocollic reflexes in torticollis. Mov Disord 10 (1995) 455-459
59. Lekhel H., Popov K., Anastasopoulos D., et al. Postural responses to vibration of neck muscles in patients with idiopathic torticollis. Brain 120 (1997) 583-591
60. Muller J., Kofler M., Wenning G., et al. Auditory startle response in cervical dystonia. Mov Disord 18 (2003) 1522-1526
61. Thickbroom G., Byrnes M., Stell R., and Mastaglia F. Reversible reorganisation of the motor cortical representation of the hand in cervical dystonia. Mov Disord 18 (2003) 395-402
62. Kanovský P., Bares M., Streitová H., et al. Abnormalities of cortical excitability and cortical inhibition in cervical dystonia. Evidence from somatosensory evoked potentials and paired transcranial magnetic stimulation recordings. J Neurol 250 (2003) 42-50
63. Currá A., Romaniello A., Berardelli A., et al. Shortened cortical silent period in facial muscles of patients with cranial dystonia. Neurology 54 (2000) 130-135
64. Van der Kamp W., Rothwell J., Thompson P., et al. The movement-related cortical potential is abnormal in patients with idiopathic torsion dystonia [published correction appears in Mov Disord 1996;11:118]. Mov Disord 10 (1995) 630-633
65. Yoshida K., Kaji R., Kohara N., et al. Movement-related cortical potentials before jaw excursions in oromandibular dystonia. Mov Disord 18 (2003) 94-100
66. Burton K., Farrell K., Li D., and Calne D. Lesions of the putamen and dystonia: CT and magnetic resonance imaging. Neurology 34 (1984) 962-965
67. Bhatia K., and Marsden C. The behavioural and motor consequences of focal lesions of the basal ganglia in man. Brain 117 (1994) 859-876
68. Lee M., and Marsden C. Movement disorders following lesions of the thalamus or subthalamic region. Mov Disord 9 (1994) 493-507
69. Zerrate M., Pardo C., and Jinnah H. Neuropathology in idiopathic cervical dystonia. Mov Disord 22 Suppl 16 (2007) S114
70. Klier E., Wang H., Constantin A., and Crawford J. Midbrain control of three-dimensional head orientation. Science 295 (2002) 1314-1316
71. Klier E., Wang H., and Crawford J. Interstitial nucleus of cajal encodes three-dimensional head orientations in Fick-llike coordinates. J Neurophysiol 97 (2007) 604-617
72. Becker G., Berg D., Rausch W., et al. Increased tissue copper and manganese content in the lentiform nucleus in primary adult-onset dystonia. Ann Neurol 46 (1999) 260-263
73. Stoessl A., Martin W., Clark C., et al. PET studies of cerebral glucose metabolism in idiopathic torticollis. Neurology 36 (1986) 653-657
74. Perlmutter J., and Raichle M. Pure hemidystonia with basal ganglion abnormalities on positron emission tomography. Ann Neurol 15 (1984) 228-233
75. Eidelberg D., Moeller J., Ishikawa T., et al. The metabolic topography of idiopathic torsion dystonia. Brain 118 (1995) 1473-1484
76. Draganski B., Thun-HHohenstein C., Bogdahn U., et al. "Motor circuit" gray matter changes in idiopathic cervical dystonia. Neurology 61 (2003) 1228-1231
77. Bonilha L., de Vries P., Vincent D., et al. Structural white matter abnormalities in patients with idiopathic dystonia. Mov Disord 22 (2007) 1110-1116
78. Zweig R., Hedreen J., Jankel W., et al. Pathology in brainstem regions of individuals with primary dystonia. Neurology 38 (1988) 702-706
79. LeDoux M., and Brady K. Secondary cervical dystonia associated with structural lesions of the central nervous system. Mov Disord 18 (2003) 60-69
80. Bronstein A., and Rudge P. Vestibular involvement in spasmodic torticollis. J Neurol Neurosurg Psychiatry 49 (1986) 290-295
81. Stell R., Bronstein A., and Marsden C. Vestibulo-ocular abnormalities in spasmodic torticollis before and after botulinum toxin injections. J Neurol Neurosurg Psychiatry 52 (1989) 57-62
82. Dauer W., Burke R., Greene P., and Fahn S. Current concepts on the clinical features, aetiology and management of idiopathic cervical dystonia. Brain 121 (1998) 547-560
83. Vacherot F., Vaugoyeau M., Mallau S., et al. Postural control and sensory integration in cervical dystonia. Clin Neurophysiol 118 (2007) 1019-1027
84. Magyar-LLehmann S., Antonini A., Roelcke U., et al. Cerebral glucose metabolism in patients with spasmodic torticollis. Mov Disord 12 (1997) 704-708
85. Galardi G., Perani D., Grassi F., et al. Basal ganglia and thalamo-cortical hypermetabolism in patients with spasmodic torticollis. Acta Neurol Scand 94 (1996) 172-176
86. Hallett M. Dystonia: abnormal movements result from loss of inhibition. Adv Neurol 94 (2004) 11-19
87. Tinazzi M., Priori A., Bertolasi L., et al. Abnormal central integration of a dual somatosensory input in dystonia. Evidence for sensory overflow. Brain 123 (2000) 42-50
88. Ridding M., Sheean G., Rothwell J., et al. Changes in the balance between motor cortical excitation and inhibition in focal,task specific dystonia. J Neurol Neurosurg Psychiatry 59 (1995) 493-498
89. Chen R., Wassermann E., Caños M., and Hallett M. Impaired inhibition in writer's cramp during voluntary muscle activation. Neurology 49 (1997) 1054-1059
90. Matsumura M., Sawaguchi T., Oishi T., et al. Behavioral deficits induced by local injection of bicuculline and muscimol into the primate motor and premotor cortex. J Neurophysiol 65 (1991) 1542-1553
91. Hallett M. The neurophysiology of dystonia. Arch Neurol 55 (1998) 601-613
92. Velickovic M., Benabou R., and Brin M. Cervical dystonia: pathophysiology and treatment options. Drugs 61 (2001) 1921-1943
93. Lobbezoo F., Tanguay R., Thon M., and Lavigne G. Pain perception in idiopathic cervical dystonia (spasmodic torticollis). Pain 67 (1996) 483-491
94. Kutvonen O., Dastidar P., and Nurmikko T. Pain in spasmodic torticollis. Pain 69 (1997) 279-286
95. Yoneda Y., Rome S., Sagar H., and Grunewald R. Abnormal perception of the tonic vibration reflex in idiopathic focal dystonia. Eur J Neurol 7 (2000) 529-533
96. Karnath H., Konczak J., and Dichgans J. Effect of prolonged neck muscle vibration on lateral head tilt in severe spasmodic torticollis. J Neurol Neurosurg Psychiatry 69 (2000) 658-660
97. Grünewald R., Yoneda Y., Shipman J., and Sagar H. Idiopathic focal dystonia: a disorder of muscle spindle afferent processing?. Brain 120 (1997) 2179-2185
98. Rinnerthaler M., Benecke C., Bartha L., et al. Facial recognition in primary focal dystonia. Mov Disord 21 (2006) 78-82
99. Molloy F., Carr T., Zeuner K., et al. Abnormalities of spatial discrimination in focal and generalized dystonia. Brain 126 (2003) 2175-2182
100. Tinazzi M., Fiorio M., Bertolasi L., and Aglioti S. Timing of tactile and visuo-tactile events is impaired in patients with cervical dystonia. J Neurol 251 (2004) 85-90
101. Kanovský P., Streitová H., Dufek J., and Rektor I. Lateralization of the P22/N30 component of somatosensory evoked potentials of the median nerve in patients with cervical dystonia. Mov Disord 12 (1997) 553-560
102. Butterworth S., Francis S., Kelly E., et al. Abnormal cortical sensory activation in dystonia: an fMRI study. Mov Disord 8 (2003) 673-682
103. Frasson E., Priori A., Bertolasi L., et al. Somatosensory disinhibition in dystonia. Mov Disord 16 (2001) 674-682
104. Currá A., Bagnato S., and Berardelli A. Recent findings in cranial and cervical dystonia: how they help us to understand the pathophysiology of dystonia. Suppl Clin Neurophysiol 58 (2006) 257-265
105. Jahanshahi M. Factors that ameliorate or aggravate spasmodic torticollis. J Neurol Neurosurg Psychiatry 68 (2000) 227-229
106. Schramm A., Reiners K., and Naumann M. Complex mechanisms of sensory tricks in cervical dystonia. Mov Disord 19 (2004) 452-458
107. Wissel J., Muller J., Ebersbach G., and Poewe W. Trick maneuvers in cervical dystonia:investigation of movement- and touch-related changes in polymyographic activity. Mov Disord 14 (1999) 994-999
108. Greene P., and Bressman S. Exteroceptive and interoceptive stimuli in dystonia. Mov Disord 13 (1998) 549-551
109. Naumann M., Magyar-LLehmann S., Reiners K., et al. Sensory tricks in cervical dystonia: perceptual dysbalance of parietal cortex modulates frontal motor programming. Ann Neurol 47 (2000) 322-328
110. Siggelkow S., Kossev A., Moll C., et al. Impaired sensorimotor integration in cervical dystonia: a study using transcranial magnetic stimulation and muscle vibration. J Clin Neurophysiol 19 (2002) 232-239
111. Garraux G., Bauer A., Hanakawa T., et al. Changes in brain anatomy in focal hand dystonia. Ann Neurol 55 (2004) 736-739
112. Hutchison W., Lang A., Dostrovsky J., and Lozano A. Pallidal neuronal activity: implications for models of dystonia. Ann Neurol 53 (2003) 480-488
113. Quartarone A., Bagnato S., Rizzo V., et al. Abnormal associative plasticity of the human motor cortex in writer's cramp. Brain 126 (2003) 2586-2596
114. Byl N., Merzenich M., and Jenkins W. A primate genesis model of focal dystonia and repetitive strain injury: I. Learning-iinduced dedifferentiation of the representation of the hand in the primary somatosensory cortex in adult monkeys. Neurology 47 (1996) 508-520
115. Quartarone A., Siebner H., and Rothwell J. Task-specific hand dystonia: can too much plasticity be bad for you?. Trends Neurosci 29 (2006) 192-199