Usefulness of exome sequencing in the study of spastic paraparesis and cerebellar atrophy: De novo mutation of the KIF1A gene, a new hope in prognosis

Neurologia (Engl Ed). 2020 Sep;35(7):535-538. doi: 10.1016/j.nrl.2018.07.001. Epub 2019 Mar 10.
[Article in English, Spanish]
No abstract available

Publication types

  • Letter

MeSH terms

  • Atrophy
  • Cerebellar Diseases* / genetics
  • Cerebellum / pathology
  • Exome
  • Genes, vif
  • Humans
  • Kinesins / genetics
  • Mutation
  • Paraparesis, Spastic* / genetics
  • Prognosis

Substances

  • KIF1A protein, human
  • Kinesins