Magnetic Resonance Imaging
Volume 28, Issue 2 , Pages 226-234 , February 2010

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

  • Francesca Caramia

      Affiliations

    • Neuroradiologia, I Facoltà di Medicina e Chirurgia, Università di Roma “La Sapienza,” Viale dell'Università 30, 00185 Rome, Italy
    • Corresponding Author InformationCorresponding author. Neuroradiologia, Dipartimento di Scienze Neurologiche Università di Roma “La Sapienza,” Viale dell'Università 30, 00185 Rome, Italy. Tel.: +39 06 49914719; fax: +1 39 06 49914903.
  • ,
  • Caterina Mainero

      Affiliations

    • Neuroradiologia, I Facoltà di Medicina e Chirurgia, Università di Roma “La Sapienza,” Viale dell'Università 30, 00185 Rome, Italy
  • ,
  • Francesca Gragnani

      Affiliations

    • Neurologia, II Facoltà di Medicina e Chirurgia, Università di Roma “La Sapienza,” Viale dell'Università 30, 00185 Rome, Italy
  • ,
  • Emanuele Tinelli

      Affiliations

    • Neuroradiologia, I Facoltà di Medicina e Chirurgia, Università di Roma “La Sapienza,” Viale dell'Università 30, 00185 Rome, Italy
  • ,
  • Marco Fiorelli

      Affiliations

    • Neuroradiologia, I Facoltà di Medicina e Chirurgia, Università di Roma “La Sapienza,” Viale dell'Università 30, 00185 Rome, Italy
  • ,
  • Vanessa Ceschin

      Affiliations

    • Neurologia, II Facoltà di Medicina e Chirurgia, Università di Roma “La Sapienza,” Viale dell'Università 30, 00185 Rome, Italy
  • ,
  • Patrizia Pantano

      Affiliations

    • Neuroradiologia, I Facoltà di Medicina e Chirurgia, Università di Roma “La Sapienza,” Viale dell'Università 30, 00185 Rome, Italy
  • ,
  • Elisabetta Bucci

      Affiliations

    • Neurologia, II Facoltà di Medicina e Chirurgia, Università di Roma “La Sapienza,” Viale dell'Università 30, 00185 Rome, Italy
  • ,
  • Veronica Barra

      Affiliations

    • Neuroradiologia, I Facoltà di Medicina e Chirurgia, Università di Roma “La Sapienza,” Viale dell'Università 30, 00185 Rome, Italy
  • ,
  • Luigi Bozzao

      Affiliations

    • Neuroradiologia, I Facoltà di Medicina e Chirurgia, Università di Roma “La Sapienza,” Viale dell'Università 30, 00185 Rome, Italy
  • ,
  • Giovanni Antonini

      Affiliations

    • Neurologia, II Facoltà di Medicina e Chirurgia, Università di Roma “La Sapienza,” Viale dell'Università 30, 00185 Rome, Italy

Received 9 September 2008 ,Revised 3 July 2009 ,Accepted 4 July 2009.

References 

  1. Harper P. Myotonic dystrophy. London, UK: W.B. Saunders; 2001;
  2. Emery AE. Population frequencies of inherited neuromuscular diseases — a world survey. Neuromuscul Disord. 1991;1(1):19–29
  3. Brook JD, McCurrach ME, Harley HG, Buckler AJ, 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 HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 1992;355(6360):545–546
  5. Ashizawa T, Dunne CJ, Dubel JR, Perryman MB, Epstein HF, 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 AV, Timchenko LT, Cooper TA. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science. 1998;280(5364):737–741
  7. Lam LT, Pham YC, Nguyen TM, Morris GE. 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 EB, Finsterer J, Korschineck I, Mamoli B, Binder BR. 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. In:  Rosenberg RN,  Prusiner SB,  Dimauro S,  Barchi RL editor. The molecular and genetic basis of neurological disease. 2nd ed. Stoneham (MA): Butterworth-Heinemann; 1997;
  11. Beijersbergen RS, Kemp A, van Leeuwen WS. EEG observations in dystrophia myotonica (Curschmann–Steinert). Electroencephalogr Clin Neurophysiol. 1980;49(1–2):143–151
  12. Brumback RA. 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 OA, Boone K, Mehringer CM, 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 FD, 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 CA, 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 AD. 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 RE. Proton spectroscopy in myotonic dystrophy: correlations with CTG repeats. Arch Neurol. 1998;55(3):305–311
  30. Damian MS, 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 SJ, Kissel JT, Shuttleworth EC, Chakeres DW, Clapp LE, Brogan MA. 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 MC, 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 JC. Functional neuroimaging studies of motor recovery after stroke in adults: a review. Stroke. 2003;34(6):1553–1566
  38. Pantano P, Mainero C, Iannetti GD, Caramia F, Di Legge S, Piattella MC, 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 NS, Frackowiak RS. Age-related changes in the neural correlates of motor performance. Brain. 2003;126(Pt 4):873–888
  40. Reddy H, Bendahan D, Lee MA, 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 RT, Logigian EL, Martens WB, Annis CL, Pandya S, Moxley RTt, 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 RC. 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 KJ, Frith CD, Frackowiak RS, Turner R. Characterizing dynamic brain responses with fMRI: a multivariate approach. Neuroimage. 1995;2(2):166–172
  45. Friston KJ, Holmes AP, Worsley KJ. 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. New York: Thieme; 1988;
  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 PM. 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 JJ, Brooks DJ, Passingham RE, Rothwell JC, Frackowiak RS, Leigh PN. Cortical function in progressive lower motor neuron disorders and amyotrophic lateral sclerosis: a comparative PET study. Neurology. 1994;44(6):1101–1110
  50. Dum RP, Strick PL. 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. Oxford: Oxford University Press; 1981;
  52. Jacobs KM, Donoghue JP. Reshaping the cortical motor map by unmasking latent intracortical connections. Science. 1991;251(4996):944–947
  53. Calautti C, Baron JC. Functional neuroimaging studies of motor recovery after stroke in adults: a review. Stroke. 2003;34(6):1553–1566
  54. Logigian EL, Blood CL, Dilek N, Martens WB, Moxley RTt, Wiegner AW, 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 PM. 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 WD. 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

PII: S0730-725X(09)00177-5

doi: 10.1016/j.mri.2009.07.006

Magnetic Resonance Imaging
Volume 28, Issue 2 , Pages 226-234 , February 2010