Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing

@article{Hensiek2014DiagnosisIA,
  title={Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing},
  author={A. Hensiek and S. Kirker and E. Reid},
  journal={Journal of Neurology},
  year={2014},
  volume={262},
  pages={1601 - 1612}
}
The hereditary spastic paraplegias (HSPs) are a group of genetic conditions in which spastic paralysis of the legs is the principal clinical feature. This is caused by a relatively selective distal axonal degeneration involving the longest axons of the corticospinal tracts. Consequently, these conditions provide an opportunity to identify genes, proteins and cellular pathways that are critical for axonal health. In this review, we will provide a brief overview of the classification, clinical… Expand
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