Genetic leukoencephalopathies with unknown metabolic pathogenesis

Neurological Sciences - Tập 22 - Trang S108-S112 - 2001
A. Federico1, A. Rufa1, C. Battisti1, S. Bianchi1, E. Cardaioli1, P. Da Pozzo1, N. De Stefano1, P. Formichi1, F. Sicurelli1, M. T. Dotti1
1Neurometabolic Diseases Unit, Research Center for Neurohandicap, Medical School, University of Siena, Viale Bracci 2, I-53100 Siena, Italy, , IT

Tóm tắt

The authors describe the principal forms of genetic leucodystrophies with unknown metabolic pathogenesis, indicating their main clinical signs and the new findings concerning the molecular genetic that are useful for the laboratory confirmation of the clinical suspicion.