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 FerrerPublished 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.