Charcot-Marie-Tooth disease type 1: Molecular pathogenesis to gene therapy

J KAMHOLZ; D MENICHELLA; A JANI; J GARBERN; R. A LEWIS; K. M KRAJEWSKI; J LILIEN; S. S SCHERER; M. E SHY

doi:10.1093/brain/123.2.222

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Charcot-Marie-Tooth disease type 1: Molecular pathogenesis to gene therapy

Journal article

Open access

Peer reviewed

Charcot-Marie-Tooth disease type 1: Molecular pathogenesis to gene therapy

J KAMHOLZ, D MENICHELLA, A JANI, J GARBERN, R. A LEWIS, K. M KRAJEWSKI, J LILIEN, S. S SCHERER and M. E SHY

Brain (London, England : 1878), Vol.123(2), pp.222-233

2000

DOI: 10.1093/brain/123.2.222

PMID: 10648431

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Abstract

Charcot-Marie-Tooth disease type 1 (CMT1) is caused by mutations in the peripheral myelin protein, 22 kDa (PMP22) gene, protein zero (P0) gene, early growth response gene 2 (EGR-2) and connexin-32 gene, which are expressed in Schwann cells, the myelinating cells of the peripheral nervous system. Although the clinical and pathological phenotypes of the various forms of CMT1 are similar, including distal muscle weakness and sensory loss, their molecular pathogenesis is likely to be quite distinct. In addition, while demyelination is the hallmark of CMT1, the clinical signs and symptoms of the disease are probably produced by axonal degeneration, not demyelination itself. In this review we discuss the molecular pathogenesis of CMT1, as well as approaches to an effective gene therapy for this disease

Neurology

Biological and medical sciences

Medical sciences

Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases

Details

Title: Subtitle: Charcot-Marie-Tooth disease type 1: Molecular pathogenesis to gene therapy
Creators: J KAMHOLZ - Department of Neurology, Wayne State University School of Medicine, Detroit, United States
D MENICHELLA - Department of Neurology, Ospedale Maggiore-Policlinico, Milan, Italy
A JANI - Department of Neurology, Wayne State University School of Medicine, Detroit, United States
J GARBERN - Department of Neurology, Wayne State University School of Medicine, Detroit, United States
R. A LEWIS - Department of Neurology, Wayne State University School of Medicine, Detroit, United States
K. M KRAJEWSKI - Department of Neurology, Wayne State University School of Medicine, Detroit, United States
J LILIEN - Department of Biological Sciences, Wayne State University School of Medicine, Detroit, United States
S. S SCHERER - Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, United States
M. E SHY - Department of Neurology, Wayne State University School of Medicine, Detroit, United States
Resource Type: Journal article
Publication Details: Brain (London, England : 1878), Vol.123(2), pp.222-233
Publisher: Oxford University Press; Oxford
DOI: 10.1093/brain/123.2.222
PMID: 10648431
ISSN: 0006-8950
eISSN: 1460-2156
Language: English
Date published: 2000
Academic Unit: Neurology; Molecular Physiology and Biophysics; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Biology
Record Identifier: 9984020863302771

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