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Sporadic adult-onset leucodystrophy with axonal spheroids and pigmented glia with no mutations in the known targeted genes.

Ivan Fernandez-VegaKatti Pérez de Heredia-GoñiJorge Santos-JuanesMiguel Goñi ImizcozLaura ZaldumbideJuan Jose ZarranzIsidro Ferrer
Published in: Histopathology (2015)
We add support to the idea that all these entities are closely related diseases linked to a convergent metabolic pathway, but caused by different genes or perhaps by the combination of individually non-pathogenic variations of selected genes. Genetic defects are still barely known in a substantial number of adult leucodystrophies.
Keyphrases
  • genome wide
  • bioinformatics analysis
  • genome wide identification
  • dna methylation
  • genome wide analysis
  • spinal cord injury
  • copy number
  • gene expression
  • late onset
  • amyotrophic lateral sclerosis