Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF

Neuromuscul Disord. 2009 Oct;19(10):701-3. doi: 10.1016/j.nmd.2009.05.006. Epub 2009 Jun 21.


Hereditary motor-sensory neuropathy (HMSN) Type 1/CMT 1 is a disorder of the peripheral nervous system. The underlying genetic cause is heterogeneous, and mutations in LITAF (Lipopolysaccharide-induced TNF-alpha factor) represent a rare cause of CMT Type 1. In this report, a novel missense mutation is presented in the LITAF gene (c.430G>A p.V144M) in a German CMT family exhibiting typical electrophysiological features of a demyelinating neuropathy with conduction blocks and variable age at onset. Molecular genetic characterization of demyelinating HMSN should therefore include screening of the LITAF gene if typical signs of a non-homogenous demyelinating neuropathy combined with dominant familial occurrence are evident.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Child
  • Demyelinating Diseases / diagnosis
  • Demyelinating Diseases / physiopathology
  • Diagnosis, Differential
  • Family
  • Female
  • Germany
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Nerve Block
  • Neural Conduction
  • Nuclear Proteins / genetics*
  • Sequence Analysis, DNA
  • Transcription Factors / genetics*


  • LITAF protein, human
  • Nuclear Proteins
  • Transcription Factors