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

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

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초록

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.

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.

참고문헌 (8)

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  4. Kuo HC, "Correlation among subcortical white matter lesions, intelligence and CTG repeat expansion in classic myotonic dystrophy type 1", Acta Neurol Scand, 117, pp.101~107 (2008)
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  7. Kornblum C, "Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2", J Neurol, 251, pp.710~714 (2004)
  8. Yamamoto Y, "Neuropathological correlates of temporal pole white matter hyperintensities in CADASIL", Stroke, 40, pp.2004~2011 (2009)

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