期刊
JOURNAL OF MEDICAL GENETICS
卷 40, 期 2, 页码 81-86出版社
BMJ PUBLISHING GROUP
DOI: 10.1136/jmg.40.2.81
关键词
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The hereditary spastic paraplegias are a group of neurodegenerative conditions that all share the principal clinical feature of progressive lower limb spastic paralysis, caused by either failure of development or progressive degeneration of the corticospinal tract. The conditions are characterised by extreme genetic heterogeneity, with at least 20 genes involved. Until recently, no functional overlap was apparent in the associated molecular pathological mechanisms. However, with recent progress in hereditary spastic paraplegia gene identification, common pathological themes are now emerging.
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