A novel autosomal dominant leukodystrophy with specific MRI pattern

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• 作者：A. Corlobé ; F. Taithe ; P. Clavelou ; E. Pierre ; C. Carra-Dallière…
• 关键词：Autosomal dominant ; Leukodystrophy ; MRI ; Exome sequencing
• 刊名：Journal of Neurology
• 出版年：2015
• 出版时间：April 2015
• 年：2015
• 卷：262
• 期：4
• 页码：988-991
• 全文大小：399 KB
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• 作者单位：A. Corlobé (1)
  F. Taithe (2)
  P. Clavelou (2)
  E. Pierre (3)
  C. Carra-Dallière (1)
  X. Ayrignac (1)
  K. Mouzat (4)
  S. Lumbroso (4)
  N. Menjot de Champfleur (5)
  M. Koenig (6)
  O. Boespflug-Tanguy (7)
  P. Labauge (1)
  
  1. Department of Neurology, CHU Gui de Chauliac, CHU Montpellier, 80 avenue Augustin Fliche, 34295, Montpellier Cedex 5, France
  2. Department of Neurology, CHU Clermont Ferrand, Clermont-Ferrand, France
  3. Department of Genetics, CHU Clermont Ferrand, Clermont-Ferrand, France
  4. Department of Genetics, CHU Nimes, Nimes, France
  5. Department of Neuroradiology, CHU Montpellier, Montpellier, France
  6. Department of Genetics, CHU Montpellier, Montpellier, France
  7. Department of Neuropediatrics, Robert Debré Hospital, Paris, France
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Neurology
  Neurosciences
  Neuroradiology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-1459

文摘

Etiologic diagnosis of adulthood leukodystrophy is challenging in neurologic practice. We describe here the clinico-radiological features of a novel autosomal dominant leukodystrophy in a single family. Clinical and MRI features were recorded in a three generation family. Exome sequencing was performed in two affected relatives and one healthy member. Four total relatives (3 women and 1 man, mean age at onset: 45, range 32-9) were followed: 2 for migraine and 2 for cognitive loss. MRI features were homogeneous in the four affected relatives: extensive and symmetrical white matter hyperintensities on T2-weighted images, with a posterior predominance, involvement of the middle cerebellar peduncles, corpus callosum and the posterior limb of the internal capsules. An extensive metabolic screening was negative. In addition, sequencing of pathogenic genes involved in dominant leukodystrophies (NOTCH3, LMNB1, GFAP, CSF1R) was negative. No mutation has been identified yet with exome sequencing. This report is peculiar because of dominant inheritance, adult onset, highly homogeneous white matter hyperintensities on T2-weighted MR images, predominant in the middle cerebellar peduncles and posterior part of internal capsule and absence of mutation of the genes involved in dominant leukodystrophies.