The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review

J Child Neurol. 2011 Jan;26(1):49-57. doi: 10.1177/0883073810373142.

Abstract

Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene may cause severe early-onset inherited neuropathies. Here, the authors report a clinical and neurophysiological follow-up of a Pakistani child with a very early-onset neuropathy carrying a novel homozygous mutation in the GDAP1gene. They discuss the relationship between the several forms of Charcot-Marie-Tooth disease presenting in the first months of life and focus on the literature of GDAP1-associated early-onset neuropathy. This case further expands on the clinical spectrum and the genetic heterogeneity of early-onset inherited neuropathy due to GDAP1 gene mutations.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Child
  • Child, Preschool
  • Homozygote
  • Humans
  • Infant
  • Male
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Neurologic Examination
  • Polymorphism, Single Nucleotide

Substances

  • GDAP protein
  • Nerve Tissue Proteins