A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia

Intern Med. 2020 Mar 15;59(6):839-842. doi: 10.2169/internalmedicine.3661-19. Epub 2019 Dec 6.


Heterozygous mutations in KIF1A have been reported to cause syndromic intellectual disability or pure spastic paraplegia. However, their genotype-phenotype correlations have not been fully elucidated. We herein report a man with autism and hyperactivity along with sensory disturbance and spastic paraplegia, carrying a novel de novo mutation in KIF1A [c.37C>T (p.R13C)]. Autism and hyperactivity have only previously been reported in a patient with c.38 G>A (R13H) mutation. This case suggests that alterations in this arginine at codon 13 might lead to a common clinical spectrum and further expand the genetic and clinical spectra associated with KIF1A mutations.

Keywords: KIF1A; attention deficit disorder with hyperactivity; autism; hereditary sensory and autonomic neuropathies; psychomotor hyperactivity; spastic paraplegia.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Attention Deficit Disorder with Hyperactivity / complications*
  • Autistic Disorder / complications*
  • Epilepsy / complications
  • Heterozygote
  • Humans
  • Intellectual Disability / genetics
  • Kinesins / genetics*
  • Male
  • Mutation
  • Mutation, Missense
  • Paraplegia / complications
  • Sensation Disorders / complications*


  • KIF1A protein, human
  • Kinesins