Clinical, radiological and genetic aspects of leukodystrophies

A László; On Elpeleg; K Horváth; C Jakobs; J Kóbor; A Gal; P Barsi; A Kelemen; J Saracz; A Svékus; A Tegzes; E Vörös

Clinical, radiological and genetic aspects of leukodystrophies

Ideggyogy Sz. 2010 Jul 30;63(7-8):266-73.

Authors

A László¹, On Elpeleg, K Horváth, C Jakobs, J Kóbor, A Gal, P Barsi, A Kelemen, J Saracz, A Svékus, A Tegzes, E Vörös

Affiliation

¹ University of Szeged, A. Szent-Györgyi Medical Centre, Department of Pediatrics, Szeged, Hungary.

PMID: 20812455

Abstract

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).

Publication types

Case Reports

MeSH terms

Adrenoleukodystrophy / diagnosis
Adrenoleukodystrophy / genetics
Adult
Alexander Disease / diagnosis
Alexander Disease / genetics
Brain / diagnostic imaging
Brain / pathology*
Canavan Disease / diagnosis
Canavan Disease / genetics
Child, Preschool
Chromosomes, Human, Pair 18*
Female
Gene Deletion*
Humans
Infant
Leukodystrophy, Metachromatic / diagnosis*
Leukodystrophy, Metachromatic / diagnostic imaging
Leukodystrophy, Metachromatic / genetics*
Magnetic Resonance Imaging*
Male
Pelizaeus-Merzbacher Disease / diagnosis
Pelizaeus-Merzbacher Disease / genetics
Radiography
Tomography, Emission-Computed, Single-Photon