Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

@article{Schle2016HereditarySP,
  title={Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients},
  author={Rebecca Sch{\"u}le and Sarah Wiethoff and Peter Martus and Kathrin N. Karle and Susanne Otto and Stephan Klebe and Sven Klimpe and Constanze Gallenm{\"u}ller and Delia Kurzwelly and Dorothea Henkel and Florian Rimmele and Henning Stolze and Zacharias Kohl and Jan Kassubek and Thomas Klockgether and Stefan Vielhaber and Christoph Kamm and Thomas Klopstock and Peter Bauer and Stephan Z{\"u}chner and Inga Liepelt-Scarfone and Ludger Sch{\"o}ls},
  journal={Annals of Neurology},
  year={2016},
  volume={79}
}
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.
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161 Citations
Highly Influential Citations
7
Background Citations
52
Methods Citations
5
Results Citations
3

161 Citations

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The authors have constructed a brief timeline of major clinical research related to hereditary spastic paraplegia research, from the first clinical descriptions by Adolf von Strümpell in 1880 to the present day, with the transformation of these diseases into a rapidly-growing and heterogeneous group of neurogenetic diseases.
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A 50-year-old Japanese woman who presented with slowly progressing spastic paraplegia and a history of Paget's disease of bone was reported, and genetic testing revealed a mutation of the Valosin-containing protein (VCP) gene (p.436C>T).
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The objective of the current study was to evaluate the efficacy and safety of BoNT‐A in patients with hereditary spastic paraplegias.
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[Common forms of hereditary spastic paraplegias].
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Clinical and genetic characteristics of common autosomal dominant and autosomal recessive spastic paraplegia forms and methods of next generation sequencing are presented.
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This study will observe clinical manifestations and disease severity based on different molecular mechanisms, including oxidative stress, cholesterol metabolism and microtubule dynamics, all of which have been proposed as potential treatment targets or modalities.
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