KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins

  • Enrica Marchionni
  • Aurélie Méneret
  • Boris Keren
  • Judith Melki
  • Christian Denier
  • Alexandra Durr
  • Emmanuelle Apartis
  • Odile Boespflug-Tanguy
  • Fanny Mochel

Abstract

BackgroundKIF1C (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia.

Case report: We report fraternal twins presenting with cerebellar ataxia and dystonic tremor. Their brain MRI showed a hypomyelinating leukoencephalopathy. Whole exome sequencing identified a homozygous KIF1C variant in both patients.

DiscussionKIF1C variants can manifest as a complex movement disorder with cerebellar ataxia and dystonic tremor. KIF1C variants may also cause a hypomyelinating leukoencephalopathy.

Keywords: KIF1C, dystonic tremor, cerebellar ataxia, hypomyelinating leukoencephalopathy

Citation: Marchionni E, Méneret A, Keren B, Melki J, Denier C, Durr A, et al. KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor and Dystonia in Fraternal Twins. Tremor Other Hyperkinet Mov. 2019: 9. doi: 10.7916/tohm.v0.641