Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia

J Neurol Sci. 2017 Jul 15:378:210-212. doi: 10.1016/j.jns.2017.05.014. Epub 2017 May 10.
No abstract available

Keywords: Ataxia; CAPN1; Calpains; Central nervous system; Hereditary spastic paraplegia; Targeted resequencing.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Calpain / genetics*
  • Calpain / metabolism
  • Family
  • Humans
  • Male
  • Models, Molecular
  • Mutation*
  • Sequence Alignment
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / physiopathology
  • Spastin / genetics

Substances

  • Calpain
  • CAPN1 protein, human
  • Spastin
  • SPAST protein, human