Skin biopsies in myelin-related neuropathies: Bringing molecular pathology to the bedside

Jun Li, Yunhong Bai, Khaled Ghandour, Pu Qin, Marina Grandis, Anna Trostinskaia, Emilia Ianakova, Xingyao Wu, Angelo Schenone, Jean Michel Vallat, William J. Kupsky, James Hatfield, Michael E. Shy

Research output: Contribution to journalArticlepeer-review

107 Scopus citations


Skin biopsy is a minimally invasive procedure and has been used in the evaluation of non-myelinated, but not myelinated nerve fibres, in sensory neuropathies. We therefore evaluated myelinated nerves in skin biopsies from normal controls and patients with Charcot-Marie-Tooth (CMT) disease caused by mutations in myelin proteins. Light microscopy, electron microscopy and immunohistochemistry routinely identified myelinated dermal nerves in glabrous skin that appeared similar to myelinated fibres in sural and sciatic nerve. Myelin abnormalities were observed in all patients with CMT. Moreover, skin biopsies detected potential pathogenic abnormalities in the axolemmal molecular architecture previously undetected in human neuropathies. Finally, myelin gene expression at both mRNA and protein levels was evaluated by real-time PCR and immunoelectron microscopy. Peripheral myelin protein 22 (PMP22) was increased in CMT1A (PMP22 duplication) and decreased in patients with hereditary neuropathy with liability to pressure palsies (PMP22 deletion). Taken together, our data suggest that skin biopsy may in certain circumstances replace the more invasive sural nerve biopsy in the morphological and molecular evaluation of inherited and other demyelinating neuropathies.

Original languageEnglish (US)
Pages (from-to)1168-1177
Number of pages10
Issue number5
StatePublished - May 2005


  • Inherited neuropathy
  • Molecular architecture
  • Myelinated nerve
  • Real time PCR
  • Schwann cell
  • Skin biopsy

ASJC Scopus subject areas

  • Clinical Neurology


Dive into the research topics of 'Skin biopsies in myelin-related neuropathies: Bringing molecular pathology to the bedside'. Together they form a unique fingerprint.

Cite this