Functional MRI changes in the central motor system in myotonic dystrophy type 1

Magnetic Resonance Imaging

Volumn 28, Issue 2, 2010, Pages 226-234

  Caramia, Francesca ^a   Mainero, Caterina ^a   Gragnani, Francesca ^a   Tinelli, Emanuele ^a   Fiorelli, Marco ^a   Ceschin, Vanessa ^a   Pantano, Patrizia ^a   Bucci, Elisabetta ^a   Barra, Veronica ^a   Bozzao, Luigi ^a   Antonini, Giovanni ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Aging; Brain; CNS; FMRI; Motor activity; Myotonic dystrophy

Indexed keywords

OXYGEN;

ADULT; AGE DISTRIBUTION; ARTICLE; BASAL GANGLION; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; FUNCTIONAL MAGNETIC RESONANCE IMAGING; HUMAN; IMAGE ANALYSIS; INTERMETHOD COMPARISON; MALE; MOTOR PERFORMANCE; MOTOR SYSTEM; MYOTONIC DYSTROPHY; NERVE STIMULATION; NEUROIMAGING; OXYGEN BLOOD LEVEL; PARIETAL LOBE; PHENOTYPE; PREMOTOR CORTEX; PRIORITY JOURNAL; SENSORIMOTOR CORTEX; TASK PERFORMANCE; THALAMUS;

ADULT; EVOKED POTENTIALS, MOTOR; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MOTOR CORTEX; MOVEMENT; MYOTONIC DYSTROPHY; SOMATOSENSORY CORTEX; YOUNG ADULT;

EID: 77349120749     PISSN: 0730725X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mri.2009.07.006     Document Type: Article

References (59)

1. Harper P. Myotonic dystrophy 2001, W.B. Saunders, London, UK.
2. Emery A.E. Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscul Disord 1991, 1(1):19-29.
3. Brook J.D., McCurrach M.E., Harley H.G., Buckler A.J., Church D., Aburatani H., et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 1992, 69(2):385.
4. Harley H.G., Brook J.D., Rundle S.A., Crow S., Reardon W., Buckler A.J., et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992, 355(6360):545-546.
5. Ashizawa T., Dunne C.J., Dubel J.R., Perryman M.B., Epstein H.F., Boerwinkle E., et al. Anticipation in myotonic dystrophy. I. Statistical verification based on clinical and haplotype findings. Neurology 1992, 42(10):1871-1877.
6. Philips A.V., Timchenko L.T., Cooper T.A. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 1998, 280(5364):737-741.
7. Lam L.T., Pham Y.C., Nguyen T.M., Morris G.E. Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart. Hum Mol Genet 2000, 9(14):2167-2173.
8. Gharehbaghi-Schnell E.B., Finsterer J., Korschineck I., Mamoli B., Binder B.R. Genotype-phenotype correlation in myotonic dystrophy. Clin Genet 1998, 53(1):20-26.
9. Harris S., Moncrieff C., Johnson K. Myotonic dystrophy: will the real gene please step forward!. Hum Mol Genet 1996, 5(Spec No):1417-1423.
10. Roses A. Myotonic dystrophy. The molecular and genetic basis of neurological disease 1997, Butterworth-Heinemann, Stoneham (MA). 2nd ed. R.N. Rosenberg, S.B. Prusiner, S. Dimauro, R.L. Barchi (Eds.).
11. Beijersbergen R.S., Kemp A., van Leeuwen W.S. EEG observations in dystrophia myotonica (Curschmann-Steinert). Electroencephalogr Clin Neurophysiol 1980, 49(1-2):143-151.
12. Brumback R.A. Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy. Arch Neurol 1990, 47(3):253-254.
13. Chang L., Anderson T., Migneco O.A., Boone K., Mehringer C.M., Villanueva-Meyer J., et al. Cerebral abnormalities in myotonic dystrophy. Cerebral blood flow, magnetic resonance imaging, and neuropsychological tests. Arch Neurol 1993, 50(9):917-923.
14. Cosi V., Bergamaschi R., Versino M., Callieco R., Sandrini G., Ruiz L. Multimodal evoked potentials in myotonic dystrophy (MyD). Neurophysiol Clin 1992, 22(1):41-50.
15. Di Costanzo A., Di Salle F., Santoro L., Tessitore A., Bonavita V., Tedeschi G. Pattern and significance of white matter abnormalities in myotonic dystrophy type 1: an MRI study. J Neurol 2002, 249(9):1175-1182.
16. Mochizuki H., Hanajima R., Kowa H., Motoyoshi Y., Ashida H., Kamakura K., et al. Somatosensory evoked potential recovery in myotonic dystrophy. Clin Neurophysiol 2001, 112(5):793-799.
17. Ono S., Inoue K., Mannen T., Mitake S., Shirai T., Kanda F., et al. Intracytoplasmic inclusion bodies of the thalamus and the substantia nigra, and Marinesco bodies in myotonic dystrophy: a quantitative morphological study. Acta Neuropathol (Berl) 1989, 77(4):350-356.
18. Yoshimura N., Otake M., Igarashi K., Matsunaga M., Takebe K., Kudo H. Topography of Alzheimer's neurofibrillary change distribution in myotonic dystrophy. Clin Neuropathol 1990, 9(5):234-239.
19. Kassubek J., Juengling F.D., Hoffmann S., Rosenbohm A., Kurt A., Jurkat-Rott K., et al. Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study. Neurosci Lett 2003, 348(2):73-76.
20. Naka H., Imon Y., Ohshita T., Honjo K., Kitamura T., Mimori Y., et al. Magnetization transfer measurements of cerebral white matter in patients with myotonic dystrophy. J Neurol Sci 2002, 193(2):111-116.
21. Di Costanzo A., Di Salle F., Santoro L., Bonavita V., Tedeschi G. Brain MRI features of congenital- and adult-form myotonic dystrophy type 1: case-control study. Neuromuscul Disord 2002, 12(5):476-483.
22. Sergeant N., Sablonniere B., Schraen-Maschke S., Ghestem A., Maurage C.A., Wattez A., et al. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum Mol Genet 2001, 10(19):2143-2155.
23. Seznec H., Agbulut O., Sergeant N., Savouret C., Ghestem A., Tabti N., et al. Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet 2001, 10(23):2717-2726.
24. Antonini G., Mainero C., Romano A., Giubilei F., Ceschin V., Gragnani F., et al. Cerebral atrophy in myotonic dystrophy: a voxel based morphometric study. J Neurol Neurosurg Psychiatry 2004, 75(11):1611-1613.
25. Oyamada R., Hayashi M., Katoh Y., Tsuchiya K., Mizutani T., Tominaga I., et al. Neurofibrillary tangles and deposition of oxidative products in the brain in cases of myotonic dystrophy. Neuropathology 2006, 26(2):107-114.
26. Abe K., Fujimura H., Toyooka K., Yorifuji S., Nishikawa Y., Hazama T., et al. Involvement of the central nervous system in myotonic dystrophy. J Neurol Sci 1994, 127(2):179-185.
27. Avrahami E., Katz A., Bornstein N., Korczyn A.D. Computed tomographic findings of brain and skull in myotonic dystrophy. J Neurol Neurosurg Psychiatry 1987, 50(4):435-438.
28. Censori B., Provinciali L., Danni M., Chiaramoni L., Maricotti M., Foschi N., et al. Brain involvement in myotonic dystrophy: MRI features and their relationship to clinical and cognitive conditions. Acta Neurol Scand 1994, 90(3):211-217.
29. Chang L., Ernst T., Osborn D., Seltzer W., Leonido-Yee M., Poland R.E. Proton spectroscopy in myotonic dystrophy: correlations with CTG repeats. Arch Neurol 1998, 55(3):305-311.
30. Damian M.S., Bachmann G., Herrmann D., Dorndorf W. Magnetic resonance imaging of muscle and brain in myotonic dystrophy. J Neurol 1993, 240(1):8-12.
31. Fierro B., Daniele O., Aloisio A., Buffa D., La Bua V., Oliveri M., et al. Neurophysiological and radiological findings in myotonic dystrophy patients. Eur J Neurol 1998, 5(1):89-94.
32. Hashimoto T., Tayama M., Miyazaki M., Murakawa K., Kawai H., Nishitani H., et al. Neuroimaging study of myotonic dystrophy. I. Magnetic resonance imaging of the brain. Brain Dev 1995, 17(1):24-27.
33. Huber S.J., Kissel J.T., Shuttleworth E.C., Chakeres D.W., Clapp L.E., Brogan M.A. Magnetic resonance imaging and clinical correlates of intellectual impairment in myotonic dystrophy. Arch Neurol 1989, 46(5):536-540.
34. Miaux Y., Chiras J., Eymard B., Lauriot-Prevost M.C., Radvanyi H., Martin-Duverneuil N., et al. Cranial MRI findings in myotonic dystrophy. Neuroradiology 1997, 39(3):166-170.
35. Oliveri M., Brighina F., La Bua V., Aloisio A., Buffa D., Fierro B. Magnetic stimulation study in patients with myotonic dystrophy. Electroencephalogr Clin Neurophysiol 1997, 105(4):297-301.
36. Mitsuoka T., Watanabe C., Kitamura J., Ishigame K., Nakamura S. Movement-related cortical potentials in myotonic dystrophy. Clin Neurophysiol 2003, 114(1):99-106.
37. Calautti C., Baron J.C. Functional neuroimaging studies of motor recovery after stroke in adults: a review. Stroke 2003, 34(6):1553-1566.
38. Pantano P., Mainero C., Iannetti G.D., Caramia F., Di Legge S., Piattella M.C., et al. Contribution of corticospinal tract damage to cortical motor reorganization after a single clinical attack of multiple sclerosis. Neuroimage 2002, 17(4):1837-1843.
39. Ward N.S., Frackowiak R.S. Age-related changes in the neural correlates of motor performance. Brain 2003, 126(Pt 4):873-888.
40. Reddy H., Bendahan D., Lee M.A., Johansen-Berg H., Donaghy M., Hilton-Jones D., et al. An expanded cortical representation for hand movement after peripheral motor denervation. J Neurol Neurosurg Psychiatry 2002, 72(2):203-210.
41. Moxley R.T., Logigian E.L., Martens W.B., Annis C.L., Pandya S., Moxley R.T.t., et al. Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1). Muscle Nerve 2007, 36(3):320-328.
42. Oldfield R.C. The assessment and analysis of handedness: the Edinburgh inventory. Neuropsychologia 1971, 9(1):97-113.
43. Mathieu J., De Braekeleer M., Prevost C., Boily C. Myotonic dystrophy: clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation. Neurology 1992, 42(1):203-208.
44. Friston K.J., Frith C.D., Frackowiak R.S., Turner R. Characterizing dynamic brain responses with fMRI: a multivariate approach. Neuroimage 1995, 2(2):166-172.
45. Friston K.J., Holmes A.P., Worsley K.J. How many subjects constitute a study?. Neuroimage 1999, 10(1):1-5.
46. Talairach J., Tournoux P. Co-planar stereotaxic atlas of the human brain 1988, Thieme, New York.
47. Lee M., Reddy H., Johansen-Berg H., Pendlebury S., Jenkinson M., Smith S., et al. The motor cortex shows adaptive functional changes to brain injury from multiple sclerosis. Ann Neurol 2000, 47(5):606-613.
48. Pineiro R., Pendlebury S., Johansen-Berg H., Matthews P.M. Functional MRI detects posterior shifts in primary sensorimotor cortex activation after stroke: evidence of local adaptive reorganization?. Stroke 2001, 32(5):1134-1139.
49. Kew J.J., Brooks D.J., Passingham R.E., Rothwell J.C., Frackowiak R.S., Leigh P.N. Cortical function in progressive lower motor neuron disorders and amyotrophic lateral sclerosis: a comparative PET study. Neurology 1994, 44(6):1101-1110.
50. Dum R.P., Strick P.L. Motor areas in the frontal lobe of the primate. Physiol Behav 2002, 77(4-5):677-682.
51. Brodal A. Neurological anatomy in relation to clinical medicine 1981, Oxford University Press, Oxford.
52. Jacobs K.M., Donoghue J.P. Reshaping the cortical motor map by unmasking latent intracortical connections. Science 1991, 251(4996):944-947.
53. Calautti C., Baron J.C. Functional neuroimaging studies of motor recovery after stroke in adults: a review. Stroke 2003, 34(6):1553-1566.
54. Logigian E.L., Blood C.L., Dilek N., Martens W.B., Moxley R.T.t., Wiegner A.W., et al. Quantitative analysis of the "warm-up" phenomenon in myotonic dystrophy type 1. Muscle Nerve 2005, 32(1):35-42.
55. Reddy H., Floyer A., Donaghy M., Matthews P.M. Altered cortical activation with finger movement after peripheral denervation: comparison of active and passive tasks. Exp Brain Res 2001, 138(4):484-491.
56. Kawashima T., Furuta A., Doh-ura K., Kikuchi H., Iwaki T. Ubiquitin-immunoreactive skein-like inclusions in the neostriatum are not restricted to amyotrophic lateral sclerosis, but are rather aging-related structures. Acta Neuropathol (Berl) 2000, 100(1):43-49.
57. Oyanagi K., Ogawa H., Nakajima T. Rod-like intracytoplasmic inclusions in large neurons of the caudate nucleus: frequent appearance in myotonic dystrophy. Clin Neuropathol 1994, 13(3):134-138.
58. Mielke R., Herholz K., Fink G., Ritter D., Heiss W.D. Positron emission tomography in myotonic dystrophy. Psychiatry Res 1993, 50(2):93-99.
59. Kiuchi A., Otsuka N., Namba Y., Nakano I., Tomonaga M. Presenile appearance of abundant Alzheimer's neurofibrillary tangles without senile plaques in the brain in myotonic dystrophy. Acta Neuropathol (Berl) 1991, 82(1):1-5.