Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

  title={Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis},
  author={Andrea Citterio and A. Arnoldi and E. Panzeri and M. D'Angelo and M. Filosto and R. Dilena and F. Arrigoni and Marianna Castelli and C. Maghini and C. Germiniasi and F. Menni and A. Martinuzzi and N. Bresolin and M. T. Bassi},
  journal={Journal of Neurology},
  • Andrea Citterio, A. Arnoldi, +11 authors M. T. Bassi
  • Published 2013
  • Biology, Medicine
  • Journal of Neurology
  • Complicated hereditary spastic paraplegias (HSP) are a heterogeneous group of HSP characterized by spasticity associated with a variable combination of neurologic and extra-neurologic signs and symptoms. Among them, HSP with thin corpus callosum and intellectual disability is a frequent subtype, often inherited as a recessive trait (ARHSP-TCC). Within this heterogeneous subgroup, SPG11 and SPG15 represent the most frequent subtypes. We analyzed the mutation frequency of three genes associated… CONTINUE READING
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