Hereditary Spastic Paraplegias: Current Knowledge And Developments

MEDIZINISCHE GENETIK(2018)

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摘要
Hereditary spastic paraplegia (HSPs) are movement disorders that result from the degeneration of upper motor neuron axons. They are clinically and genetically highly heterogeneous. The present review summarizes current strategies for the genetic diagnosis of HSPs, discusses possible mutational mechanisms and explanations of the clinical variability within selected forms, and points out unexplained and partially neglected phenomena. In addition, the need for a deeper understanding of cellular and molecular mechanisms for the development of new treatments is portrayed.
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关键词
HSP, SPG, Neurodegeneration
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