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Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Arch Neurol. 2007 Jul; 64(7):966-70.AN

Abstract

BACKGROUND

To date, 13 different neurofilament light-chain polypeptide gene (NEFL) mutations have been identified in 55 patients with Charcot-Marie-Tooth disease (CMT) from 16 families. NEFL mutations were found to be associated with axonal and demyelinating variants of CMT.

OBJECTIVES

To describe the clinical features of 11 patients with CMT and NEFL mutations and to explore possible genotype-phenotype correlations.

DESIGN

Standardized neuromuscular and nerve conduction studies were performed, and the coding regions of the peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ), gap junction beta-1 protein (GJB1), and NEFL genes were analyzed by direct DNA sequencing.

SETTING

Two university hospitals in Austria (referral centers for neuromuscular disorders). Patients Eleven patients with CMT and NEFL mutations. Main Outcome Measure We genotyped NEFL in all of the patients and healthy relatives and correlated the genotype with the phenotype.

RESULTS

A novel NEFL mutation (p.L93P) was detected in 1 family with 4 affected individuals exhibiting a severe CMT phenotype. Nerve conduction velocities were intermediately slowed to a range of 35 to 39 m/s. In a second family and in a sporadic patient, a p.P8R mutation was identified with intermediate and severe nerve conduction slowing.

CONCLUSION

The results argue against an obvious genotype-phenotype correlation regarding disease onset, degree of muscle weakness, and nerve conduction slowing caused by NEFL mutations.

Authors+Show Affiliations

Section of Clinical Genetics, Innsbruck Medical University, Anichstrasse 35, A-6020 Innsbruck, Austria.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17620486

Citation

Miltenberger-Miltenyi, Gabriel, et al. "Clinical and Electrophysiological Features in Charcot-Marie-Tooth Disease With Mutations in the NEFL Gene." Archives of Neurology, vol. 64, no. 7, 2007, pp. 966-70.
Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, et al. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. Arch Neurol. 2007;64(7):966-70.
Miltenberger-Miltenyi, G., Janecke, A. R., Wanschitz, J. V., Timmerman, V., Windpassinger, C., Auer-Grumbach, M., & Löscher, W. N. (2007). Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. Archives of Neurology, 64(7), 966-70.
Miltenberger-Miltenyi G, et al. Clinical and Electrophysiological Features in Charcot-Marie-Tooth Disease With Mutations in the NEFL Gene. Arch Neurol. 2007;64(7):966-70. PubMed PMID: 17620486.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. AU - Miltenberger-Miltenyi,Gabriel, AU - Janecke,Andreas R, AU - Wanschitz,Julia V, AU - Timmerman,Vincent, AU - Windpassinger,Christian, AU - Auer-Grumbach,Michaela, AU - Löscher,Wolfgang N, PY - 2007/7/11/pubmed PY - 2007/9/1/medline PY - 2007/7/11/entrez SP - 966 EP - 70 JF - Archives of neurology JO - Arch. Neurol. VL - 64 IS - 7 N2 - BACKGROUND: To date, 13 different neurofilament light-chain polypeptide gene (NEFL) mutations have been identified in 55 patients with Charcot-Marie-Tooth disease (CMT) from 16 families. NEFL mutations were found to be associated with axonal and demyelinating variants of CMT. OBJECTIVES: To describe the clinical features of 11 patients with CMT and NEFL mutations and to explore possible genotype-phenotype correlations. DESIGN: Standardized neuromuscular and nerve conduction studies were performed, and the coding regions of the peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ), gap junction beta-1 protein (GJB1), and NEFL genes were analyzed by direct DNA sequencing. SETTING: Two university hospitals in Austria (referral centers for neuromuscular disorders). Patients Eleven patients with CMT and NEFL mutations. Main Outcome Measure We genotyped NEFL in all of the patients and healthy relatives and correlated the genotype with the phenotype. RESULTS: A novel NEFL mutation (p.L93P) was detected in 1 family with 4 affected individuals exhibiting a severe CMT phenotype. Nerve conduction velocities were intermediately slowed to a range of 35 to 39 m/s. In a second family and in a sporadic patient, a p.P8R mutation was identified with intermediate and severe nerve conduction slowing. CONCLUSION: The results argue against an obvious genotype-phenotype correlation regarding disease onset, degree of muscle weakness, and nerve conduction slowing caused by NEFL mutations. SN - 0003-9942 UR - https://www.unboundmedicine.com/medline/citation/17620486/Clinical_and_electrophysiological_features_in_Charcot_Marie_Tooth_disease_with_mutations_in_the_NEFL_gene_ L2 - https://jamanetwork.com/journals/jamaneurology/fullarticle/10.1001/archneur.64.7.966 DB - PRIME DP - Unbound Medicine ER -