The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.
Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A
Abstract
Charcot-Marie-Tooth disease type 1A (CMT1A), the most frequent form of CMT, is caused by a 1.5 Mb duplication on the short arm of chromosome 17. Patients with CMT1A typically have slowed nerve conduction velocities (NCVs), reduced compound motor and sensory nerve action potentials (CMAPs and SNAPs), distal weakness, sensory loss and decreased reflexes. In order to understand further the molecular pathogenesis of CMT1A, as well as to determine which features correlate with neurological dysfunction and might thus be amenable to treatment, we evaluated the clinical and electrophysiological phenotype in 42 patients with CMT1A. In these patients, muscle weakness, CMAP amplitudes and motor unit number estimates correlated with clinical disability, while motor NCV did not. In addition, loss of joint position sense and reduction in SNAP amplitudes also correlated with clinical disability, while sensory NCV did not. Taken together, these data strongly support the hypothesis that neurological dysfunction and clinical disability in CMT1A are caused by loss or damage to large calibre motor and sensory axons. Therapeutic approaches to ameliorate disability in CMT1A, as in amyotrophic lateral sclerosis and other neurodegenerative diseases, should thus be directed towards preventing axonal degeneration and/or promoting axonal regeneration.
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Citations
Cites
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
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Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
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Cited by
c-Jun activation in Schwann cells protects against loss of sensory axons in inherited neuropathy
Hantke, J., Carty, L., Wagstaff, L. J., Turmaine, M., Wilton, D. K., Quintes, S., Koltzenburg, M., Baas, F., Mirsky, R., & Jessen, K. R. (2014) · Brain · doi:10.1093/brain/awu257 · Cited by 76
Moss, K. R., Arowolo, M. A., Gutierrez, D. R., & Höke, A. (2026) · Glia · doi:10.1002/glia.70124 · Cited by 2
Metadata
- Authors
- Krajewski, K. M.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2000-07-01
- Volume
- 123
- Issue
- 7
- Pages
- 1516-1527
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W1990657506
- Cited by
- 414
- References
- 35
- FWCI
- 5.15
- Type
- journal article
- Language
- en
- Open access
- closed
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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