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Literature DB >> 15111691

Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.

G M Fabrizi¹, T Cavallaro, C Angiari, L Bertolasi, I Cabrini, M Ferrarini, N Rizzuto.

Abstract

The axonal type 2 Charcot-Marie-Tooth disease (CMT2) is phenotypically poorly characterized. Here the authors report a family with a Pro22Ser mutation in the neurofilament-light gene (NF-L; CMT2E) manifesting electrophysiologically as the demyelinating type 1 CMT (CMT1) and pathologically as an axonopathy with giant axons and accumulation of disorganized NF. NF-L should be investigated in CMT2 as well as in CMT1 not associated with the usual genes PMP22, Cx32, and P0.

Entities: CellLine Disease Gene Mutation

Mesh：

Substances：

Year: 2004 PMID： 15111691 DOI： 10.1212/01.wnl.0000120664.07186.3c

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

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Cited

34 in total

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Journal: Neurobiol Dis Date: 2007-06-23 Impact factor: 5.996

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Authors: Ram K Sihag; Masaki Inagaki; Tomoya Yamaguchi; Thomas B Shea; Harish C Pant
Journal: Exp Cell Res Date: 2007-04-12 Impact factor: 3.905

Review 3. Review of the multiple aspects of neurofilament functions, and their possible contribution to neurodegeneration.

Authors: Rodolphe Perrot; Raphael Berges; Arnaud Bocquet; Joel Eyer
Journal: Mol Neurobiol Date: 2008-07-23 Impact factor: 5.590

4. Giant axon formation in mice lacking Kell, XK, or Kell and XK: animal models of McLeod neuroacanthocytosis syndrome.

Authors: Xiang Zhu; Eun-Sook Cho; Quan Sha; Jianbin Peng; Yelena Oksov; Siok Yuen Kam; Mengfatt Ho; Ruth H Walker; Soohee Lee
Journal: Am J Pathol Date: 2014-01-07 Impact factor: 4.307

5. Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.

Authors: Christopher J Klein; Yanhong Wu; Peter Vogel; Hans H Goebel; Carsten Bönnemann; Kristen Zukosky; Maria-Victoria Botuyan; Xiaohui Duan; Sumit Middha; Elizabeth J Atkinson; Georges Mer; Peter J Dyck
Journal: Neurology Date: 2014-02-05 Impact factor: 9.910

6. Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

Authors: Pankaj B Agrawal; Mugdha Joshi; Nicholas S Marinakis; Klaus Schmitz-Abe; Pedro D S C Ciarlini; Jane C Sargent; Kyriacos Markianos; Umberto De Girolami; David A Chad; Alan H Beggs
Journal: JAMA Neurol Date: 2014-11 Impact factor: 18.302

Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.

1. Axonal and periaxonal swelling precede peripheral neurodegeneration in KCC3 knockout mice.

Review 2. Role of phosphorylation on the structural dynamics and function of types III and IV intermediate filaments.

Review 3. Review of the multiple aspects of neurofilament functions, and their possible contribution to neurodegeneration.

4. Giant axon formation in mice lacking Kell, XK, or Kell and XK: animal models of McLeod neuroacanthocytosis syndrome.

5. Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.

6. Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

Review 7. Neuropathology of Charcot-Marie-Tooth and related disorders.

Review 8. Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Review 9. Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.

10. Charcot-marie-tooth disease: seventeen causative genes.