A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

J Hum Genet. 2019 Feb;64(2):171-176. doi: 10.1038/s10038-018-0538-4. Epub 2018 Nov 22.

Abstract

The tropomyosin-receptor kinase fused gene (TFG) has recently been implicated in several distinct hereditary disorders, including the autosomal-recessive form of complicated hereditary spastic paraplegia called SPG57. Previously, three homozygous variants of the TFG gene were reported in five families with SPG57, in which early onset spastic paraplegia, optic atrophy, and peripheral neuropathy were variably identified. Here, we present the first Japanese patient with SPG57, and have added a homozygous p.Ile66Thr variant as the fourth SPG57 genotype.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Child, Preschool
  • Female
  • Genetic Predisposition to Disease
  • Homozygote
  • Humans
  • Male
  • Mutation*
  • Paraplegia / genetics*
  • Paraplegia / pathology
  • Pedigree
  • Polyneuropathies / genetics*
  • Polyneuropathies / pathology
  • Proteins / genetics*
  • Sensorimotor Cortex / metabolism
  • Sensorimotor Cortex / pathology*

Substances

  • Proteins
  • TFG protein, human