CLINICAL, RADIOLOGICAL AND GENETIC ASPECTS OF LEUKODYSTROPHIES

被引:0
|
作者
Laszlo, A. [1 ]
Elpeleg, On [2 ]
Horvath, K. [3 ]
Jakobs, C. [4 ]
Kobor, J. [1 ]
Gal, A. [5 ]
Barsi, P. [6 ]
Kelemen, A. [6 ]
Saracz, J. [7 ]
Svekus, A. [8 ]
Tegzes, A. [9 ]
Voeroes, E. [10 ]
机构
[1] Univ Szeged, Albert Szent Gyorgyi Med Ctr, Dept Pediat, H-6720 Szeged, Koranyi Fasor, Hungary
[2] Shaare Zedek Med Ctr, Metab Disorders Unit, Jerusalem, Israel
[3] Semmelweis Univ, Radiol Clin, H-1085 Budapest, Hungary
[4] Univ Med Ctr, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands
[5] Inst Human Genet, Hamburg Eppendorf, Germany
[6] Semmelweis Univ, Dept Neurol, H-1085 Budapest, Hungary
[7] Pal Heim Hosp, Dept Childs Neurol, Budapest, Hungary
[8] Cty Hosp, Dept Pediat, Gyula, Hungary
[9] Bethesda Hosp, Budapest, Hungary
[10] Univ Szeged, Dept Radiol, Szeged, Hungary
来源
关键词
different types of leukodystrophies; clinical; radiological and genetic aspects; PELIZAEUS-MERZBACHER-DISEASE; MYELIN BASIC-PROTEIN; OLIVOPONTOCEREBELLAR ATROPHY; ALEXANDER-DISEASE; ASPARTOACYLASE GENE; PROTEOLIPID PROTEIN; CANAVAN-DISEASE; MUTATION; DISORDERS; DELETION;
D O I
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中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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).
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页码:266 / 273
页数:8
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