Clinical, radiological and genetic aspects of leukodystrophies.
The authors summarize the pathomechanism of the myelination process, the clinical, radiological and the genetical aspects of the leukodystrophies, as in 18q deletion syndrome, adrenoleukodysrtophy, metachromatic leukodystrophy, Pelizaeus-Merzbacher leukodystrophy, Alexander disease and olivo-ponto-cerebellar atrophy (OPCA).
László
A
A
University of Szeged, A. Szent-Györgyi Medical Centre, Department of Pediatrics, Szeged, Hungary.
Elpeleg
On
O
Horváth
K
K
Jakobs
C
C
Kóbor
J
J
Gal
A
A
Barsi
P
P
Kelemen
A
A
Saracz
J
J
Svékus
A
A
Tegzes
A
A
Vörös
E
E
D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D038261:Alexander Disease / Q000175:diagnosis / Q000235:genetics; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D017825:Canavan Disease / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D020371:Pelizaeus-Merzbacher Disease / Q000175:diagnosis / Q000235:genetics; D011859:Radiography; D015899:Tomography, Emission-Computed, Single-Photon