Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

@article{Schle2016HereditarySP,
  title={Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients},
  author={R. Sch{\"u}le and S. Wiethoff and P. Martus and K. Karle and S. Otto and S. Klebe and S. Klimpe and C. Gallenm{\"u}ller and D. Kurzwelly and D. Henkel and F. Rimmele and H. Stolze and Z. Kohl and J. Kassubek and T. Klockgether and S. Vielhaber and C. Kamm and T. Klopstock and P. Bauer and S. Z{\"u}chner and I. Liepelt-Scarfone and L. Sch{\"o}ls},
  journal={Annals of Neurology},
  year={2016},
  volume={79}
}
  • R. Schüle, S. Wiethoff, +19 authors L. Schöls
  • Published 2016
  • Medicine
  • Annals of Neurology
  • OBJECTIVE Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the hallmark of progressive spastic gait disturbance. [...] Key MethodMETHODS We recruited 608 HSP cases from 519 families of mostly German origin. Clinical severity was assessed by the Spastic Paraplegia Rating Scale. Complicating symptoms were recorded by a standardized inventory. RESULTS Family history indicated dominant (43%), recessive (10%), and simplex (47%) disease.Expand Abstract
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