Overview of the Leukoencephalopathies

摘要: Many forms of inherited leukodystrophies are now known, each characterized by specific biochemical and molecular abnormalities. The end result may be hypomyelination, i.e., the failure to form myelin proteins; delay in myelination attributable an inadequate supply precursors or accumulation substances toxic oligodendroglia; demyelination with loss normally formed myelin; vacuolating myelinopathy, wherein degenerating white matter is replaced fluid vacuolization; secondary destruction both axons myelin. Clinical signs develop after a period normal development. These can include abnormalities behavior, cognition memory, long tract signs, optic atrophy, peripheral neuropathy macro- microcephaly. Their clinical delineation facilitated magnetic resonance imaging (MRI), including use diffusion-weighted MR spectroscopy (MRS). Genetic progressive produce patterns abnormality on MRI that help distinguish them. accompanied increase water, causing decrease signal T1-weighted images T2-weighted images. finding leukodystrophy presymptomatically provide clinician window opportunity intervene therapeutically prior overt signs. This particularly relevant for metachromatic leukodystrophy, globoid cell X-linked adrenoleukodystrophy, which respond hematopoietic stem transplantation if treated early course.