Skip to main content
padlock icon - secure page this page is secure

Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs

Buy Article:

$52.00 + tax (Refund Policy)

To identify novel mutations causing hereditary motor and sensory neuropathy (HMSN) with pyramidal signs, a variant of Charcot‐Marie‐Tooth disease (CMT), we screened 28 CMT and related genes in four members of an affected Japanese family. Clinical features included weakness of distal lower limb muscles, foot deformity, and mild sensory loss, then late onset of progressive spasticity. Electrophysiological studies revealed widespread neuropathy. Electron microscopic analysis showed abnormal mitochondria and mitochondrial accumulation in the neurons and Schwann cells. Brain magnetic resonance imaging (MRI) revealed an abnormally thin corpus callosum. In all four, microarrays detected a novel heterozygous missense mutation c.1166A>G (p.Y389C) in the gene encoding the light‐chain neurofilament protein (NEFL), indicating that NEFL mutations can result in a HMSN with pyramidal signs phenotype.
No References
No Citations
No Supplementary Data
No Article Media
No Metrics

Keywords: Charcot‐Marie‐Tooth disease; gene chip array; hereditary motor and sensory neuropathy with pyramidal signs; light‐chain neurofilament protein (NEFL); mitochondrial accumulation

Document Type: Research Article

Publication date: December 1, 2014

  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
X
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more