Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

@article{Proukakis2003ScreeningOP,
  title={Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.},
  author={Christos Proukakis and Michaela Auer-Grumbach and Klaus Wagner and Phillip A. Wilkinson and E. O. F. Reid and Michael A. Patton and Thomas T. Warner and Andrew H. Crosby},
  journal={Human mutation},
  year={2003},
  volume={21 2},
  pages={170}
}
Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterised in its pure form by progressive lower limb spasticity. Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases. A cohort of 41 mostly pure HSP patients from Britain and Austria, 30 of whom displayed AD inheritance, was screened for mutations in SPG4 by single strand conformation polymorphism (SSCP) analysis followed by sequencing of samples with mobility shifts. We… CONTINUE READING
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