White matter abnormalities in gene-positive myoclonus-dystonia

Movement Disorders

Volumn 27, Issue 13, 2012, Pages 1666-1672

  van der Meer, Johan N ^a   Beukers, Richard J ^a   van der Salm, S M A ^a   Caan, Matthan W A ^a   Tijssen, Marina A J ^a,b   Nederveen, Aart J ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

DTI; Dystonia; Myoclonus; Structural imaging; VBM

Indexed keywords

BROMAZEPAM; BUSPIRONE; CITALOPRAM; CLONAZEPAM; DYT 11 PROTEIN; FLUPENTIXOL; PHENOBARBITAL; PROPRANOLOL; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BRAIN MAPPING; BRAIN SIZE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; DIFFUSION TENSOR IMAGING; FEMALE; FRACTIONAL ANISOTROPY; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; MYOCLONUS DYSTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SUBTHALAMIC NUCLEUS; VOXEL BASED MORPHOMETRY; WHITE MATTER LESION;

ADOLESCENT; ADULT; AGED; ANISOTROPY; BRAIN; DIFFUSION TENSOR IMAGING; DYSTONIC DISORDERS; FEMALE; HUMANS; IMAGING, THREE-DIMENSIONAL; LEUKOENCEPHALOPATHIES; MALE; MIDDLE AGED; NERVE FIBERS, MYELINATED; YOUNG ADULT;

EID: 84870307879     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25128     Document Type: Article

References (44)

1. Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001; 29: 66-69.
2. Asmus F, Gasser T. Inherited myoclonus-dystonia. Adv Neurol 2004; 94: 113-119.
3. Klein C. Myoclonus and myoclonus-dystonias. In: Genetics of Movement Disorders. San Diego, CA: Academic Press; 2010: 449-469.
4. Piras G, El Kharroubi A, Kozlov S, et al. Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines. Mol Cell Biol 2000; 20: 3308-3315.
5. Gerrits MCF, Foncke EMJ, de Haan R, et al. Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. Neurology 2006; 66: 759-761.
6. Vitek JL. Pathophysiology of dystonia: a neuronal model. Mov Disord 2002; 17: S49-S62.
7. Berardelli A, Rothwell JC, Hallett M, Thompson PD, Manfredi M, Marsden CD. The pathophysiology of primary dystonia. Brain 1998; 121: 1195-1212.
8. Tinazzi M, Rosso T, Fiaschi A. Role of the somatosensory system in primary dystonia. Mov Disord 2003; 18: 605-622.
9. Beukers RJ, Foncke EMJ, van der Meer JN, et al. Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia: a functional magnetic resonance imaging study. Arch Neurol 2010; 67: 469-474.
10. Ashburner J, Friston KJ. Voxel-based morphometry-the methods. Neuroimage 2000; 11: 805-821.
11. Vidailhet M, Grabli D, Roze E. Pathophysiology of dystonia. Curr Opin Neurol 2009; 22: 406-413.
12. Quartarone A, Siebner HR, Rothwell JC. Task-specific hand dystonia: can too much plasticity be bad for you? Trends Neurosci 2006; 29: 192-199.
13. 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.
14. Garraux G, Bauer A, Hanakawa T, Wu T, Kansaku K, Hallett M. Changes in brain anatomy in focal hand dystonia. Ann Neurol 2004; 55: 736-739.
15. Egger K, Mueller J, Schocke M, et al. Voxel based morphometry reveals specific gray matter changes in primary dystonia. Mov Disord 2007; 22: 1538-1542.
16. Draganski B, Thun-Hohenstein C, Bogdahn U, Winkler J, May A. "Motor circuit" gray matter changes in idiopathic cervical dystonia. Neurology 2003; 61: 1228-1228.
17. Obermann M, Yaldizli O, De Greiff A, et al. Morphometric changes of sensorimotor structures in focal dystonia. Mov Disord 2007; 22: 1117-1123.
18. Etgen T. Bilateral grey-matter increase in the putamen in primary blepharospasm. J Neurol Neurosurg Psychiatry 2006; 77: 1017-1020.
19. Black KJ, Ongur D, Perlmutter JS. Putamen volume in idiopathic focal dystonia. Neurology 1998; 51: 819-824.
20. Basser PJ. Inferring microstructural features and the physiological state of tissues from diffusion-weighted images. NMR Biomed 1995; 8: 333-344.
21. Beaulieu C. The basis of anisotropic water diffusion in the nervous system-a technical review. NMR Biomed 2002; 15: 435-455.
22. Fabbrini G, Pantano P, Totaro P, et al. Diffusion tensor imaging in patients with primary cervical dystonia and in patients with blepharospasm. Eur J Neurol 2008; 15: 185-189.
23. Colosimo C, Pantano P, Calistri V, Totaro P, Fabbrini G, Berardelli A. Diffusion tensor imaging in primary cervical dystonia. J Neurol Neurosurg Psychiatry 2005; 76: 1591-1593.
24. Bonilha L, de Vries PM, Vincent DJ, et al. Structural white matter abnormalities in patients with idiopathic dystonia. Mov Disord 2007; 22: 1110-1116.
25. 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.
26. 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.
27. Carbon M, Kingsley PB, Tang C, Bressman S, Eidelberg D. Microstructural white matter changes in primary torsion dystonia. Mov Disord 2008; 23: 234-239.
28. 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.
29. Draganski B, Gaser C, Busch V, Schuierer G, Bogdahn U, May A. Neuroplasticity: changes in grey matter induced by training. Nature 2004; 427: 311-312.
30. 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.
31. Frucht SJ, Leurgans SE, Hallett T, Fahn S. The unified myoclonus rating scale. In: Myoclonus and Paroxysmal Dyskinesias. Philadelphia: Lippincott Williams & Wilkins; 2002: 361-376.
32. Mori S, Oishi K, Jiang HY, et al. Stereotaxic white matter atlas based on diffusion tensor imaging in an ICBM template. Neuroimage 2008; 40: 570-582.
33. Ashburner J. A fast diffeomorphic image registration algorithm. Neuroimage 2007; 38: 95-113.
34. Klein A, Andersson J, Ardekani BA, et al. Evaluation of 14 nonlinear deformation algorithms applied to human brain MRI registration. Neuroimage 2009; 46: 786-802.
35. Caviness JN, Brown P. Myoclonus: current concepts and recent advances. Lancet Neurol 2004; 3: 598-607.
36. Brown P, Rothwell JC, Thompson PD, Britton TC, Day BL, Marsden CD. The hyperekplexias and their relationship to the normal startle reflex. Brain 1991; 114: 1903-1928.
37. Bostan AC, Dum RP, Strick PL. The basal ganglia communicate with the cerebellum. Proc Natl Acad Sci U S A 2010; 107: 8452-8456.
38. Ritz K, van Schaik BDC, Jakobs ME, et al. SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? Eur J Hum Genet 2011; 19: 438-444.
39. Beukers RJ, Foncke EMJ, van der Meer JN, et al. Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia: a functional magnetic resonance imaging study. Arch Neurol 2010; 67: 469-474.
40. Neychev VK, Fan X, Mitev VI, Hess EJ, Jinnah HA. The basal ganglia and cerebellum interact in the expression of dystonic movement. Brain 2008; 131: 2499-2509.
41. Hallett M. Neurophysiology of dystonia: the role of inhibition. Neurobiol Dis 2011; 42: 177-184.
42. Li JY, Cunic DI, Paradiso G, et al. Electrophysiological features of myoclonus-dystonia. Mov Disord 2008; 23: 2055-2061.
43. Beukers RJ, Foncke EMJ, van der Meer JN, Veltman DJ, Tijssen MAJ. Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia. Arch Neurol 2011; 68: 802-805.
44. Neychev VK, Gross RE, Lehericy S, Hess EJ, Jinnah HA. The functional neuroanatomy of dystonia. Neurobiol Dis 2011; 42: 185-201.