Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E

Ann Neurol. 2001 Feb;49(2):245-9. doi: 10.1002/1531-8249(20010201)49:2<245::aid-ana45>3.0.co;2-a.


A missense mutation in the neurofilament light chain gene (NEFL, NF-L) at chromosome 8p21 was recently reported in a single Charcot-Marie-Tooth type 2 family (CMT2). This new CMT2 variant is designated CMT2E. The NEFL gene mutation showed co-segregation with the disease phenotype and is thus most likely the disease-causing mutation. However, the possibility that it is a closely linked rare polymorphism can not be ruled out with certainty. We observed a novel NEFL missense mutation in a second CMT family, providing supporting evidence that CMT2E is caused by NEFL gene mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromatography, High Pressure Liquid
  • Female
  • Humans
  • Mutation / genetics
  • Neurofilament Proteins / genetics*
  • Pedigree
  • Time Factors


  • Neurofilament Proteins