Recent Developments in Genetic Leukodystrophies

Abstract

Genetic leukodystrophies are rare heredofamilial involving primarily the white matter of the central nervous system. The main genetic leukodystrophies consist of metachromatic leukodystrophy, globoid cell leukodystrophy, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Alexander disease and Canavan disease. The correct diagnosis of genetic leukodystrophies is impor-tant for determining the prognosis, prenatal diagnosis and genetic counseling. Final diagnosis of genetic leukodystrophies should be established using biochemical, genetic or pathological studies. Neuroimaging and neurophysiological studies are helpful in separate-ing genetic leukodystrophies from cerebral palsy, in early diagnosis and in objectively measuring the severity of disease.