期刊
CURRENT OPINION IN NEUROBIOLOGY
卷 51, 期 -, 页码 139-146出版社
CURRENT BIOLOGY LTD
DOI: 10.1016/j.conb.2018.04.025
关键词
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资金
- Intramural Research Program of the National Institutes of Neurological Disorders and Stroke, National Institutes of Health
Hereditary spastic paraplegias (HSPs) are neurologic disorders characterized by prominent lower-extremity spasticity, resulting from a length-dependent axonopathy of corticospinal upper motor neurons. They are among the most genetically diverse neurologic disorders, with >80 distinct genetic loci and over 60 identified genes. Studies investigating the molecular pathogenesis underlying HSPs have emphasized the importance of converging cellular pathogenic themes in the most common forms of HSP, providing compelling targets for therapy. Most notably, these include organelle shaping and biogenesis as well as membrane and cargo trafficking.
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