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Brain Advance Access published online on March 17, 2005
Brain, doi:10.1093/brain/awh483
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© The Author (2005). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org
Received October 10, 2004
Revised January 19, 2005
Accepted February 21, 2005

Article

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

Jun Li 1*, Yunhong Bai 1, Khaled Ghandour 1, Pu Qin 1, Marina Grandis 1, Anna Trostinskaia 1, Emilia Ianakova 1, Xingyao Wu 1, Angelo Schenone 2, Jean-Michel Vallat 3, William J. Kupsky 4, James Hatfield 5, and Michael E. Shy 1

1 Department of Neurology, Wayne State University School of Medicine, Detroit, MI, USA
2 Department of Neurological Sciences and Rehabilitation, University of Genova, Genova, Italy
3 Service de Neurologie, CHU Dupuytren, Limoges, France
4 Department of Pathology, Wayne State University School of Medicine, Detroit, MI, USA
5 Department of Pathology, John D. Dingell VA Hospital, Detroit, MI, USA

* To whom correspondence should be addressed.
Jun Li, E-mail: junli{at}med.wayne.edu


  Abstract

Summary 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.

Keywords: skin biopsy; myelinated nerve; Schwann cell; molecular architecture; real time PCR; inherited neuropathy.
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