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[脱髓鞘疾病]

[Demyelinating disorders].

作者信息

Weber T, Köhler W

机构信息

Klinik für Neurologie, Marienkrankenhaus Hamburg, 22087 Hamburg.

出版信息

Nervenarzt. 2010 Apr;81(4):471-96. doi: 10.1007/s00115-010-2948-1.

Abstract

Leukoencephalopathies in adults are frequent and exhibit highly variable aetiology, including multiple acquired causes such as inflammatory, vascular or toxic diseases and neoplasias. In contrast leukodystrophies are genetically determined, chronic progressive myelin disorders with a variable pathogenetic background and a great diversity of clinical and paraclinical findings. Some diseases, namely those with an additional inborn error of metabolism, are treatable. Genetic counselling appears to be of major importance for patients and their families. In the light of numerous acquired adulthood leukoencephalopathies a clear delineation of late-onset genetic leukodystrophies is necessary. Clinical symptoms and MRI patterns of some of the major leukodystrophies are reported, including possibilities of biochemical and genetic testing.

摘要

成人白质脑病很常见,病因高度多样,包括多种后天性病因,如炎症性、血管性或中毒性疾病以及肿瘤。相比之下,脑白质营养不良是由基因决定的慢性进行性髓鞘疾病,其发病机制背景各异,临床和辅助检查结果也多种多样。一些疾病,即那些伴有额外先天性代谢缺陷的疾病,是可治疗的。遗传咨询对患者及其家人似乎至关重要。鉴于众多后天性成人白质脑病,明确区分迟发性遗传性脑白质营养不良很有必要。本文报道了一些主要脑白质营养不良的临床症状和MRI表现,包括生化和基因检测的可能性。

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