Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

@article{Giudice2014HereditarySP,
  title={Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms},
  author={Temistocle Lo Giudice and Federica Lombardi and Filippo M. Santorelli and T Kawarai and Antonio Orlacchio},
  journal={Experimental Neurology},
  year={2014},
  volume={261},
  pages={518-539}
}
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological disorders characterized by pathophysiologic hallmark of length-dependent distal axonal degeneration of the corticospinal tracts. The prominent features of this pathological condition are progressive spasticity and weakness of the lower limbs. To date, 72 spastic gait disease-loci and 55 spastic paraplegia genes (SPGs) have been identified. All modes of inheritance (autosomal dominant… CONTINUE READING

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