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

doi:10.1093/brain/awh483

Back

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

Journal article

Open access

Peer reviewed

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, …

Brain (London, England : 1878), Vol.128(5), pp.1168-1177

2005

DOI: 10.1093/brain/awh483

PMID: 15774502

Files and links (1)

url

https://doi.org/10.1093/brain/awh483View

Published (Version of record) Open Access

Abstract

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.

Immunopathology

Neurology

Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction

Biological and medical sciences

Immunoglobulinopathies

Medical sciences

Immunodeficiencies. Immunoglobulinopathies

Nervous system (semeiology, syndromes)

Details

Title: Subtitle: Skin biopsies in myelin-related neuropathies : bringing molecular pathology to the bedside
Creators: Jun Li - Department of Neurology, Wayne State University School of Medicine, United States
Yunhong Bai - Department of Neurology, Wayne State University School of Medicine, United States
Khaled Ghandour - Department of Neurology, Wayne State University School of Medicine, United States
Pu Qin - Department of Neurology, Wayne State University School of Medicine, United States
Marina Grandis - Department of Neurology, Wayne State University School of Medicine, United States
Anna Trostinskaia - Department of Neurology, Wayne State University School of Medicine, United States
Emilia Ianakova - Department of Neurology, Wayne State University School of Medicine, United States
Xingyao Wu - Department of Neurology, Wayne State University School of Medicine, United States
Angelo Schenone - Department of Neurological Sciences and Rehabilitation, University of Genova, Genova, Italy
Jean-Michel Vallat - Service de Neurologie, CHU Dupuytren, Limoges, France
William J Kupsky - Department of Pathology, Wayne State University School of Medicine, United States
James Hatfield - Department of Pathology, John D. Dingell VA Hospital, Detroit, MI, United States
Michael E Shy - Department of Neurology, Wayne State University School of Medicine, United States
Resource Type: Journal article
Publication Details: Brain (London, England : 1878), Vol.128(5), pp.1168-1177
DOI: 10.1093/brain/awh483
PMID: 15774502
NLM abbreviation: Brain
ISSN: 0006-8950
eISSN: 1460-2156
Publisher: Oxford University Press; Oxford
Language: English
Date published: 2005
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984020501802771

Metrics

24 Record Views

106 Times Cited - Web of Science