Tags

Type your tag names separated by a space and hit enter

The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy.
J Clin Neurosci. 2009 Jun; 16(6):830-1.JC

Abstract

We report the detailed clinical, electrophysiological and molecular analysis of a patient with Charcot-Marie-Tooth (CMT) disease. DNA sequencing of the coding sequences of the neurofilament light chain polypeptide (NEFL) gene revealed a c.64C>T heterozygous, missense mutation resulting in a Pro22Ser amino acid substitution. Clinical and electrophysiological studies revealed a mixed axonal and demyelinating neuropathy, with widespread demyelination involving both proximal and distal nerve segments. Mutations at this site in the NEFL gene have been previously linked to an axonal neuropathy or distal nerve demyelination. Our results emphasize the complexity of genotype-phenotype correlations in CMT and underline the possible importance of host factors and gene interactions in the development of clinical phenotypes.

Authors+Show Affiliations

Department of Neurology, SUNY Downstate Medical Center, 450 Clarkson Avenue, Brooklyn, NY 11203, USA. sbhagavati@downstate.eduNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19286384

Citation

Bhagavati, Satyakam, et al. "The Neurofilament Light Chain Gene (NEFL) Mutation Pro22Ser Can Be Associated With Mixed Axonal and Demyelinating Neuropathy." Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, vol. 16, no. 6, 2009, pp. 830-1.
Bhagavati S, Maccabee PJ, Xu W. The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy. J Clin Neurosci. 2009;16(6):830-1.
Bhagavati, S., Maccabee, P. J., & Xu, W. (2009). The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy. Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 16(6), 830-1. https://doi.org/10.1016/j.jocn.2008.08.030
Bhagavati S, Maccabee PJ, Xu W. The Neurofilament Light Chain Gene (NEFL) Mutation Pro22Ser Can Be Associated With Mixed Axonal and Demyelinating Neuropathy. J Clin Neurosci. 2009;16(6):830-1. PubMed PMID: 19286384.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy. AU - Bhagavati,Satyakam, AU - Maccabee,Paul J, AU - Xu,Weimin, Y1 - 2009/03/14/ PY - 2008/04/15/received PY - 2008/08/19/revised PY - 2008/08/21/accepted PY - 2009/3/17/entrez PY - 2009/3/17/pubmed PY - 2009/8/6/medline SP - 830 EP - 1 JF - Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia JO - J Clin Neurosci VL - 16 IS - 6 N2 - We report the detailed clinical, electrophysiological and molecular analysis of a patient with Charcot-Marie-Tooth (CMT) disease. DNA sequencing of the coding sequences of the neurofilament light chain polypeptide (NEFL) gene revealed a c.64C>T heterozygous, missense mutation resulting in a Pro22Ser amino acid substitution. Clinical and electrophysiological studies revealed a mixed axonal and demyelinating neuropathy, with widespread demyelination involving both proximal and distal nerve segments. Mutations at this site in the NEFL gene have been previously linked to an axonal neuropathy or distal nerve demyelination. Our results emphasize the complexity of genotype-phenotype correlations in CMT and underline the possible importance of host factors and gene interactions in the development of clinical phenotypes. SN - 0967-5868 UR - https://www.unboundmedicine.com/medline/citation/19286384/The_neurofilament_light_chain_gene__NEFL__mutation_Pro22Ser_can_be_associated_with_mixed_axonal_and_demyelinating_neuropathy_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0967-5868(08)00499-2 DB - PRIME DP - Unbound Medicine ER -