Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report

Ital J Pediatr. 2019 Dec 3;45(1):155. doi: 10.1186/s13052-019-0752-5.


Background: Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing autosomal dominant and recessive, pure and complicated forms.

Case presentation: We report the long-term follow-up of a 19 years-old boy first evaluated at 18 months of age because of toe walking and unstable gait with frequent falls. He developed speech delay, mild intellectual disability, a slowly progressive pyramidal syndrome, microcephaly, bilateral optic subatrophy and a sensory axonal polyneuropathy. Brain MRI showed cerebellar atrophy, stable along serial evaluations (last performed at 18 years of age). Targeted NGS sequencing disclosed the de novo c.914C > T missense, likely pathogenic variant on KIF1A gene.

Conclusions: We report on a previously unpublished de novo heterozygous likely pathogenic KIF1A variant associated with slowly progressive complicated SPG30 and stable cerebellar atrophy on long-term follow-up, adding to current knowledge on this HSP subtype.

Keywords: Cerebellar atrophy; Hereditary spastic paraplegia; KIF1A; SPG30.

Publication types

  • Case Reports

MeSH terms

  • ATPases Associated with Diverse Cellular Activities / genetics
  • Atrophy
  • Brain / diagnostic imaging
  • Brain / pathology
  • Exons
  • Humans
  • Kinesins / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Metalloendopeptidases / genetics
  • Mutation, Missense*
  • Polymorphism, Genetic
  • Spastic Paraplegia, Hereditary / genetics*
  • Young Adult


  • KIF1A protein, human
  • Metalloendopeptidases
  • SPG7 protein, human
  • ATPases Associated with Diverse Cellular Activities
  • Kinesins