Genetic leukoencephalopathies with unknown metabolic pathogenesis.
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.
Federico
A
A
Neurometabolic Diseases Unit, Research Center for Neurohandicap Medical School, University of Siena, Italy.
Rufa
A
A
Battisti
C
C
Bianchi
S
S
Cardaioli
E
E
Da Pozzo
P
P
De Stefano
N
N
Formichi
P
P
Sicurelli
F
F
Dotti
M T
MT
D003711:Demyelinating Diseases / Q000209:etiology / Q000473:pathology; D003937:Diagnosis, Differential; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000145:classification* / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000473:pathology