Thalamic involvement in paroxysmal kinesigenic dyskinesia: A combined structural and diffusion tensor MRI analysis

Human Brain Mapping

Volumn 36, Issue 4, 2015, Pages 1429-1441

  Kim, Ji Hyun ^a   Kim, Dong Wook ^b   Kim, Jung Bin ^a   Suh, Sang il ^a   Koh, Seong Beom ^a  

^a Korea University College of Medicine   (South Korea)

^b Konkuk University Hospital   (South Korea)

Author keywords

Diffusion tensor imaging; Paroxysmal kinesigenic dyskinesia; Structural MRI; Thalamus

Indexed keywords

ADULT; ARTICLE; BASAL GANGLION; CLINICAL ARTICLE; CONTROLLED STUDY; CORTICAL THICKNESS (BRAIN); DIFFUSION TENSOR IMAGING; FEMALE; FRACTIONAL ANISOTROPY; FUNCTIONAL NEUROIMAGING; GRAY MATTER; HUMAN; MALE; MULTIMODAL IMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PAROXYSMAL KINESIGENIC DYSKINESIA; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROSPECTIVE STUDY; THALAMOCORTICAL TRACT; THALAMUS; VOLUMETRY; WHITE MATTER; ADOLESCENT; ANISOTROPY; AUTOMATED PATTERN RECOGNITION; BRAIN CORTEX; DYSTONIA; HEMISPHERIC DOMINANCE; IMAGE PROCESSING; ORGAN SIZE; PATHOLOGY; YOUNG ADULT;

ADOLESCENT; ADULT; ANISOTROPY; CEREBRAL CORTEX; DIFFUSION TENSOR IMAGING; DYSTONIA; FEMALE; FUNCTIONAL LATERALITY; GRAY MATTER; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; MAGNETIC RESONANCE IMAGING; MALE; ORGAN SIZE; PATTERN RECOGNITION, AUTOMATED; PROSPECTIVE STUDIES; THALAMUS; YOUNG ADULT;

EID: 84925233218     PISSN: 10659471     EISSN: 10970193     Source Type: Journal    
DOI: 10.1002/hbm.22713     Document Type: Article

References (72)

1. Beaulieu C (2002): The basis of anisotropic water diffusion in the nervous system - A technical review. NMR Biomed 15:435-455.
2. Becker F, Schubert J, Striano P, Anttonen AK, Liukkonen E, Gaily E, Gerloff C, Muller S, Heussinger N, Kellinghaus C, Robbiano A, Polvi A, Zittel S, von Oertzen TJ, Rostasy K, Schols L, Warner T, Munchau A, Lehesjoki AE, Zara F, Lerche H, Weber YG (2013): PRRT2-related disorders: Further PKD and ICCA cases and review of the literature. J Neurol 260:1234-1244.
3. Bhatia KP (1999): The paroxysmal dyskinesias. J Neurol 246:149-155.
4. Bhatia KP (2011): Paroxysmal dyskinesias. Mov Disord 26:1157-1165.
5. Black KJ, Ongür D, Perlmutter JS (1998): Putamen volume in idiopathic focal dystonia. Neurology 51:819-824.
6. Bonilha L, de Vries PM, Vincent DJ, Rorden C, Morgan PS, Hurd MW, Besenski N, Bergmann KJ, Hinson VK (2007): Structural white matter abnormalities in patients with idiopathic dystonia. Mov Disord 22:1110-1116.
7. Breakefield XO, Blood AJ, Li Y, Hallett M, Hanson PI, Standaert DG (2008): The pathophysiological basis of dystonias. Nat Rev Neurosci 9:222-234.
8. Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ (2004): Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: New diagnostic criteria. Neurology 63:2280-2287.
9. Burguera JA, Catala J, Casanova B (1991): Thalamic demyelination and paroxysmal dystonia in multiple sclerosis. Mov Disord 6:379-381.
10. Camac A, Greene P, Khandji A (1990): Paroxysmal kinesigenic dystonic choreoathetosis associated with a thalamic infarct. Mov Disord 5:235-238.
11. Caraballo R, Pavek S, Lemainque A, Gastaldi M, Echenne B, Motte J, Genton P, Cersosimo R, Humbertclaude V, Fejerman N, Monaco AP, Lathrop MG, Rochette J, Szepetowski P (2001): Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Am J Hum Genet 68:788-794.
12. Cavallari M, Moscufo N, Meier D, Skudlarski P, Pearlson GD, White WB, Wolfson L, Guttmann CR (2014): Thalamic fractional anisotropy predicts accrual of cerebral white matter damage in older subjects with small-vessel disease. J Cereb Blood Flow Metab 34:1321-1327.
13. Cho C, Samkoff LM (2000): A lesion of the anterior thalamus producing dystonic tremor of the hand. Arch Neurol 57:1353-1355.
14. Colosimo C, Pantano P, Calistri V, Totaro P, Fabbrini G, Berardelli A (2005): Diffusion tensor imaging in primary cervical dystonia. J Neurol Neurosurg Psychiatry 76:1591-1593.
15. Deleu D, Lagopoulos M, Louon A (2000): Thalamic hand dystonia: An MRI anatomoclinical study. Acta Neurol Belg 100:237-241.
16. Delmaire C, Vidailhet M, Elbaz A, Bourdain F, Bleton JP, Sangla S, Meunier S, Terrier A, Lehericy S (2007): Structural abnormalities in the cerebellum and sensorimotor circuit in writer's cramp. Neurology 69:376-380.
17. Delmaire C, Vidailhet M, Wassermann D, Descoteaux M, Valabregue R, Bourdain F, Lenglet C, Sangla S, Terrier A, Deriche R, Lehéricy S (2009): Diffusion abnormalities in the primary sensorimotor pathways in writer's cramp. Arch Neurol 66:502-508.
18. Demirkiran M, Jankovic J (1995): Paroxysmal dyskinesias: Clinical features and classification. Ann Neurol 38:571-579.
19. Depienne C, Brice A (2011): Unlocking the genetics of paroxysmal kinesigenic dyskinesia. Brain 134:3431-3434.
20. Draganski B, Thun-Hohenstein C, Bogdahn U, Winkler J, May A (2003): "Motor circuit" gray matter changes in idiopathic cervical dystonia. Neurology 61:1228-1231.
21. Etgen T, Mühlau M, Gaser C, Sander D (2006): Bilateral grey-matter increase in the putamen in primary blepharospasm. J Neurol Neurosurg Psychiatry 77:1017-1020.
22. Fabbrini G, Pantano P, Totaro P, Calistri V, Colosimo C, Carmellini M, Defazio G, Berardelli A (2008): Diffusion tensor imaging in patients with primary cervical dystonia and in patients with blepharospasm. Eur J Neurol 15:185-189.
23. Fischl B, Dale AM (2000): Measuring the thickness of the human cerebral cortex from magnetic resonance images. Proc Natl Acad Sci USA 97:11050-11055.
24. Fischl B, Salat DH, Busa E, Albert M, Dieterich M, Haselgrove C, van der Kouwe A, Killiany R, Kennedy D, Klaveness S, Montillo A, Makris N, Rosen B, Dale AM (2002): Whole brain segmentation: Automated labeling of neuroanatomical structures in the human brain. Neuron 33:341-355.
25. Garraux G, Bauer A, Hanakawa T, Wu T, Kansaku K, Hallett M (2004): Changes in brain anatomy in focal hand dystonia. Ann Neurol 55:736-739.
26. Granert O, Peller M, Jabusch HC, Altenmüller E, Siebner HR (2011): Sensorimotor skills and focal dystonia are linked to putaminal grey-matter volume in pianists. J Neurol Neurosurg Psychiatry 82:1225-1231.
27. Guerrini R (2001): Idiopathic epilepsy and paroxysmal dyskinesia. Epilepsia 42(Suppl 3):S36-S41.
28. Guerrini R, Sanchez-Carpintero R, Deonna T, Santucci M, Bhatia KP, Moreno T, Parmeggiani L, Bernardina BD (2002): Early-onset absence epilepsy and paroxysmal dyskinesia. Epilepsia 43:1224-1229.
29. Hannoun S, Durand-Dubief F, Confavreux C, Ibarrola D, Streichenberger N, Cotton F, Guttmann CR, Sappey-Marinier D (2012): Diffusion tensor-MRI evidence for extra-axonal neuronal degeneration in caudate and thalamic nuclei of patients with multiple sclerosis. AJNR Am J Neuroradiol 33:1363-1368.
30. Hsu WY, Kwan SY, Liao KK, Chen RS, Lin YY (2013a): Altered inhibitory modulation of somatosensory cortices in paroxysmal kinesigenic dyskinesia. Mov Disord 28:1728-1731.
31. Hsu WY, Liao KK, Tseng YJ, Kwan SY, Chen RS, Lin YY (2013b): Reduced postmovement cortical inhibition in patients with paroxysmal kinesigenic dyskinesia. Neurology 81:353-360.
32. Joo EY, Hong SB, Tae WS, Kim JH, Han SJ, Seo DW, Lee KH, Kim MH, Kim S, Lee MH, Kim BT (2005): Perfusion abnormality of the caudate nucleus in patients with paroxysmal kinesigenic choreoathetosis. Eur J Nucl Med Mol Imaging 32:1205-1209.
33. Kang SY, Sohn YH, Kim HS, Lyoo CH, Lee MS (2006): Corticospinal disinhibition in paroxysmal kinesigenic dyskinesia. Clin Neurophysiol 117:57-60.
34. Keller SS, Ahrens T, Mohammadi S, Moddel G, Kugel H, Ringelstein EB, Deppe M (2011): Microstructural and volumetric abnormalities of the putamen in juvenile myoclonic epilepsy. Epilepsia 52:1715-1724.
35. Ko CH, Kong CK, Ngai WT, Ma KM (2001): Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis. Pediatr Neurol 24:225-227.
36. Krystkowiak P, Martinat P, Defebvre L, Pruvo JP, Leys D, Destee A (1998): Dystonia after striatopallidal and thalamic stroke: Clinicoradiological correlations and pathophysiological mechanisms. J Neurol Neurosurg Psychiatry 65:703-708.
37. Lee MS, Marsden CD (1994): Movement disorders following lesions of the thalamus or subthalamic region. Mov Disord 9:493-507.
38. Lehericy S, Vidailhet M, Dormont D, Pierot L, Chiras J, Mazetti P, Marsault C, Agid Y (1996): Striatopallidal and thalamic dystonia. A magnetic resonance imaging anatomoclinical study. Arch Neurol 53:241-250.
39. Lenz FA, Jaeger CJ, Seike MS, Lin YC, Reich SG, DeLong MR, Vitek JL (1999): Thalamic single neuron activity in patients with dystonia: Dystonia-related activity and somatic sensory reorganization. J Neurophysiol 82:2372-2392.
40. Lombroso CT (1995): Paroxysmal choreoathetosis: An epileptic or non-epileptic disorder? Ital J Neurol Sci 16:271-277.
41. Margari L, Presicci A, Ventura P, Margari F, Perniola T (2005): Channelopathy: Hypothesis of a common pathophysiologic mechanism in different forms of paroxysmal dyskinesia. Pediatr Neurol 32:229-235.
42. Martino D, Di Giorgio A, D'Ambrosio E, Popolizio T, Macerollo A, Livrea P, Bertolino A, Defazio G (2011): Cortical gray matter changes in primary blepharospasm: A voxel-based morphometry study. Mov Disord 26:1907-1912.
43. Meneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Durr A, Lagroua I, Bouteiller D, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D, Steschenko D, Devos D, Billette de Villemeur T, Vidailhet M, Brice A, Roze E (2012): PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology 79:170-174.
44. Mink JW (2003): The basal ganglia and involuntary movements: Impaired inhibition of competing motor patterns. Arch Neurol 60:1365-1368.
45. Mir P, Huang YZ, Gilio F, Edwards MJ, Berardelli A, Rothwell JC, Bhatia KP (2005): Abnormal cortical and spinal inhibition in paroxysmal kinesigenic dyskinesia. Brain 128:291-299.
46. Mulley JC, Scheffer IE, Petrou S, Berkovic SF (2003): Channelopathies as a genetic cause of epilepsy. Curr Opin Neurol 16:171-176.
47. Neychev VK, Gross RE, Lehericy S, Hess EJ, Jinnah HA (2011): The functional neuroanatomy of dystonia. Neurobiol Dis 42:185-201.
48. Nichols TE, Holmes AP (2002): Nonparametric permutation tests for functional neuroimaging: A primer with examples. Hum Brain Mapp 15:1-25.
49. Nijssen PC, Tijssen CC (1992): Stimulus-sensitive paroxysmal dyskinesias associated with a thalamic infarct. Mov Disord 7:364-366.
50. Obermann M, Yaldizli O, De Greiff A, Lachenmayer ML, Buhl AR, Tumczak F, Gizewski ER, Diener HC, Maschke M (2007): Morphometric changes of sensorimotor structures in focal dystonia. Mov Disord 22:1117-1123.
51. Pantano P, Totaro P, Fabbrini G, Raz E, Contessa GM, Tona F, Colosimo C, Berardelli A (2011): A transverse and longitudinal MR imaging voxel-based morphometry study in patients with primary cervical dystonia. AJNR Am J Neuroradiol 32:81-84.
52. Parent A, Hazrati LN (1995): Functional anatomy of the basal ganglia. I. The cortico-basal ganglia-thalamo-cortical loop. Brain Res Brain Res Rev 20:91-127.
53. Patenaude B, Smith SM, Kennedy DN, Jenkinson M (2011): A Bayesian model of shape and appearance for subcortical brain segmentation. Neuroimage 56:907-922.
54. Peterson DA, Sejnowski TJ, Poizner H (2010): Convergent evidence for abnormal striatal synaptic plasticity in dystonia. Neurobiol Dis 37:558-573.
55. Quartarone A, Hallett M (2013): Emerging concepts in the physiological basis of dystonia. Mov Disord 28:958-967.
56. Ramdhani RA, Kumar V, Velickovic M, Frucht SJ, Tagliati M, Simonyan K (2014): What's special about task in dystonia? A voxel-based morphometry and diffusion weighted imaging study. Mov Disord 29:1141-1150.
57. Rollnik JD, Winkler T, Ganser A (2003): A case of symptomatic paroxysmal kinesigenic dsykinesia with primary central nervous system lymphoma. Nervenarzt 74:362-365.
58. Rosas HD, Tuch DS, Hevelone ND, Zaleta AK, Vangel M, Hersch SM, Salat DH (2006): Diffusion tensor imaging in presymptomatic and early Huntington's disease: Selective white matter pathology and its relationship to clinical measures. Mov Disord 21:1317-1325.
59. Seneviratne U, Cook M, D'Souza W (2014): Focal abnormalities in idiopathic generalized epilepsy: A critical review of the literature. Epilepsia 55:1157-1169.
60. Shirane S, Sasaki M, Kogure D, Matsuda H, Hashimoto T (2001): Increased ictal perfusion of the thalamus in paroxysmal kinesigenic dyskinesia. J Neurol Neurosurg Psychiatry 71:408-410.
61. Smith SM, Nichols TE (2009): Threshold-free cluster enhancement: Addressing problems of smoothing, threshold dependence and localisation in cluster inference. Neuroimage 44:83-98.
62. Smith SM, Jenkinson M, Johansen-Berg H, Rueckert D, Nichols TE, Mackay CE, Watkins KE, Ciccarelli O, Cader MZ, Matthews PM, Behrens TE (2006): Tract-based spatial statistics: Voxelwise analysis of multi-subject diffusion data. Neuroimage 31:1487-1505.
63. Smith Y, Raju DV, Pare JF, Sidibe M (2004): The thalamostriatal system: A highly specific network of the basal ganglia circuitry. Trends Neurosci 27:520-527.
64. Sunohara N, Mukoyama M, Mano Y, Satoyoshi E (1984): Action-induced rhythmic dystonia: An autopsy case. Neurology 34:321-327.
65. Suzuki Y, Kiyosawa M, Wakakura M, Mochizuki M, Ishii K (2011): Gray matter density increase in the primary sensorimotor cortex in long-term essential blepharospasm. Neuroimage 56:1-7.
66. Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP (1997): Familial infantile convulsions and paroxysmal choreoathetosis: A new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 61:889-898.
67. Teipel SJ, Meindl T, Wagner M, Kohl T, Bürger K, Reiser MF, Herpertz S, Möller HJ, Hampel H (2009): White matter microstructure in relation to education in aging and Alzheimer's disease. J Alzheimers Dis 17:571-583.
68. Tomita H, Nagamitsu S, Wakui K, Fukushima Y, Yamada K, Sadamatsu M, Masui A, Konishi T, Matsuishi T, Aihara M, Shimizu K, Hashimoto K, Mineta M, Matsushima M, Tsujita T, Saito M, Tanaka H, Tsuji S, Takagi T, Nakamura Y, Nanko S, Kato N, Nakane Y, Niikawa N (1999): Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet 65:1688-1697.
69. van Vliet R, Breedveld G, de Rijk-van Andel J, Brilstra E, Verbeek N, Verschuuren-Bemelmans C, Boon M, Samijn J, Diderich K, van de Laar I, Oostra B, Bonifati V, Maat-Kievit A (2012): PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology 79:777-784.
70. Zhou B, Chen Q, Gong Q, Tang H, Zhou D (2010a): The thalamic ultrastructural abnormalities in paroxysmal kinesigenic choreoathetosis: A diffusion tensor imaging study. J Neurol 257:405-409.
71. Zhou B, Chen Q, Zhang Q, Chen L, Gong Q, Shang H, Tang H, Zhou D (2010b): Hyperactive putamen in patients with paroxysmal kinesigenic choreoathetosis: A resting-state functional magnetic resonance imaging study. Mov Disord 25:1226-1231.
72. Zittel S, Bester M, Gerloff C, Munchau A, Leypoldt F (2012): Symptomatic paroxysmal kinesigenic choreoathetosis as primary manifestation of multiple sclerosis. J Neurol 259:557-558.