A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.

@article{Arnoldi2008ACG,
  title={A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.},
  author={Alessia Arnoldi and Alessandra Tonelli and Francesca Crippa and Gaetano Villani and Consiglia Pacelli and Manuela Sironi and Uberto Pozzoli and Maria Grazia D'angelo and Giovanni Meola and Andrea Martinuzzi and Claudia Crimella and Francesca Redaelli and Chris Panzeri and Alessandra Renieri and Giacomo Comi and Anna Carla Turconi and Nereo Bresolin and Maria Teresa Bassi},
  journal={Human mutation},
  year={2008},
  volume={29 4},
  pages={522-31}
}
Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a recessive form of hereditary spastic paraparesis. Only few studies have so far been performed in large groups of hereditary spastic paraplegia (HSP) patients to determine the frequency of SPG7 mutations. Here, we report the result of a mutation screening conducted in a large cohort of 135 Italian HSP patients with the identification of six novel point mutations and one large intragenic deletion… CONTINUE READING
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