A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

@article{Warnecke2007ANF,
  title={A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.},
  author={Tobias Warnecke and Thomas Duning and Annemarie Schwan and H. Lohmann and J{\"o}rg T. Epplen and Peter Young},
  journal={Neurology},
  year={2007},
  volume={69 4},
  pages={368-75}
}
BACKGROUND Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by progressive spastic paraparesis of the lower limbs. OBJECTIVE To identify the genotype and characterize the phenotype in a family with a novel form of complicated autosomal recessive hereditary spastic paraparesis (ARHSP). METHODS Six subjects of a Turkish family were examined by clinical evaluation, detailed neuropsychological testing, neurophysiologic… CONTINUE READING
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