Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
권호 표지

Myotonic Dystrophy Type 1 (DM1) with Multifocal White Matter Changes in Both Frontotemporoparietal Lobes

양측 전두엽, 측두-두정엽의 다초점성 백색질 변화를 보이는 1형 근육 긴장성 이영양증

  • Lim, Jeong-Cheol (Department of Neurology, Inje University College of Medicine, Busan Paik Hospital) ;
  • Cho, Gu-No (Department of Neurology, Inje University College of Medicine, Busan Paik Hospital) ;
  • Kim, Eung-Gyu (Department of Neurology, Inje University College of Medicine, Busan Paik Hospital) ;
  • Bae, Jong-Seok (Department of Neurology, Inje University College of Medicine, Busan Paik Hospital)
  • 임정철 (인제대학교 의과대학 부산백병원 신경과학교실) ;
  • 조규노 (인제대학교 의과대학 부산백병원 신경과학교실) ;
  • 김응규 (인제대학교 의과대학 부산백병원 신경과학교실) ;
  • 배종석 (인제대학교 의과대학 부산백병원 신경과학교실)
  • Received : 2010.08.26
  • Accepted : 2011.01.14
  • Published : 2011.06.30
Download PDF
⟨ Previous Next ⟩

Abstract

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder caused by the expansion of cytosine-thymine-guanine (CTG) repeats in the myotonic dystrophy protein kinase (DMPK) gene. Some literatures indicated that DM1 had incidental CNS lesions such as white matter lesions and diffuse gray matter atrophy. We report a patient with DM1 whose brain magnetic resonance image (MRI) showed multifocal hyperintense lesions and cystic lesion on both frontotemporoparietal lobes.

Keywords

References

  1. Ropper AH, Samuels MA. Adams and Victor's principles of neurology. 9th ed. Mcgraw-Hill, 2009;1375-1378.
  2. Miaux Y, Chiras J, Eymard B, Lauriot-Prevost MC, Radvanyi H, Martin-Duverneuil N, et al. Cranial MRI findings in myotonic dystrophy. Neuroradiology 1997;39:166-170. https://doi.org/10.1007/s002340050385
  3. 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;249:1175-1182. https://doi.org/10.1007/s00415-002-0796-z
  4. Kuo HC, Hsieh YC, Wang HM, Chuang WL, Huang CC. Correlation among subcortical white matter lesions, intelligence and CTG repeat expansion in classic myotonic dystrophy type 1. Acta Neurol Scand 2008;117:101-107.
  5. Miller TM. Differential diagnosis of myotonic disorder. Muscle Nerve 2008;37:293-299. https://doi.org/10.1002/mus.20923
  6. Delaporte C. Personality patterns in patients with myotonic dystrophy. Arch Neurol 1998;55:635-640. https://doi.org/10.1001/archneur.55.5.635
  7. Kornblum C, Reul J, Kress W, Grothe C, Amanatidis N, Klockgether T, et al. Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2. J Neurol 2004;251:710-714.
  8. Yamamoto Y, Ihara M, Tham C, Low RW, Slade JY, Moss T, et al. Neuropathological correlates of temporal pole white matter hyperintensities in CADASIL. Stroke 2009;40:2004-2011. https://doi.org/10.1161/STROKEAHA.108.528299