Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

J Clin Invest. 2024 Jul 11;134(17):e178919. doi: 10.1172/JCI178919.
No abstract available

Keywords: Clinical practice; Genetics; Movement disorders; Neurodegeneration; Neuroscience.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Alleles
  • Child, Preschool
  • Female
  • Humans
  • Pedigree
  • Spastic Paraplegia, Hereditary* / genetics
  • Spastic Paraplegia, Hereditary* / pathology