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Brain Advance Access originally published online on March 17, 2005
Brain 2005 128(5):1168-1177; 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

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

Jun Li1, Yunhong Bai1, Khaled Ghandour1, Pu Qin1, Marina Grandis1, Anna Trostinskaia1, Emilia Ianakova1, Xingyao Wu1, Angelo Schenone4, Jean-Michel Vallat5, William J. Kupsky2, James Hatfield3 and Michael E. Shy1

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

Correspondence to: Dr Jun Li, Department of Neurology, Wayne State University, 4201 St Antoine, UHC-8D, Detroit, MI 48201, USA E-mail: junli{at}med.wayne.edu

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.


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