Genetic disorders affecting white matter in the pediatric age

Maja Di Rocco, Roberta Biancheri, Andrea Rossi, Mirella Filocamo, Paolo Tortori-Donati

Research output: Contribution to journalArticlepeer-review


Pediatric white matter disorders can be distinguished into well-defined leukoencephalopathies, and undefined leukoencephalopathies. The first category may be subdivided into: (a) hypomyelinating disorders; (b) dysmyelinating disorders; (c) leukodystrophies; (d) disorders related to cystic degeneration of myelin; and (e) disorders secondary to axonal damage. The second category, representing up to 50% of leukoencephalopathies in childhood, requires a multidisciplinar approach in order to define novel homogeneous subgroups of patients, possibly representing "new genetic disorders" (such as megalencephalic leukoencepahlopathy with subcortical cysts and vanishing white matter disease that have recently been identified). In the majority of cases, pediatric white matter disorders are inherited diseases. An integrated description of the clinical, neuroimaging and pathophysiological features is crucial for categorizing myelin disorders and better understanding their genetic basis. A review of the genetic disorders affecting white matter in the pediatric age, including some novel entities, is provided.

Original languageEnglish
Pages (from-to)85-93
Number of pages9
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume129 B
Issue number1
Publication statusPublished - Aug 15 2004


  • Demyelination
  • Genetic diseases
  • Magnetic resonance imaging
  • Myelin

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)


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