• spinal
  • It gave me some insight into what life's like in a wheelchair, and it stayed with me,' says Mackay-Sim, settling into a chair in his office at the Institute for Drug Discovery at Griffith University, just down the corridor from the laboratory where he spent years toiling over petri dishes of nasal stem cells, in his life's mission to treat spinal injuries, hereditary spastic paraplegia and diseases like Parkinson's. (theage.com.au)
  • Recessively-inherited mutations in NTE that substantially reduce its catalytic activity cause a rare form of hereditary spastic paraplegia (SPG39), in which distal parts of long spinal axons degenerate leading to limb weakness and paralysis. (wikipedia.org)
  • clinical
  • HSPs are clinically differentiated into 'pure' forms if spastic paraplegia with bladder involvement is the only clinical finding, and 'complicated' (or complex) forms if there are additional neurologic or systemic abnormalities. (uptodate.com)
  • family
  • Phenotypically, affected family members exhibited spastic quadriparesis, ataxia, and dystonia with onset in childhood and episodic neurological decline. (docme.ru)