|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We performed a mutational analysis of NEFL in a series of 177 index cases with CMT and without mutations in the genes for peripheral myelin protein zero (MPZ), peripheral myelin protein 22 (PMP22) and connexin 32 (GJB1); the motor nerve conduction velocity (MNCV) at the median nerve was below 38 m/s in 76 cases and above 38 m/s in 101.
|
17052987 |
2007 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We identified a similar aggregation-inducing mechanism in NEFL (neurofilament light) and FUS (fused in sarcoma), in which mutations are known to cause aggregation in Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis, respectively.
|
27040688 |
2016 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We have analyzed a mouse model of Charcot-Marie-Tooth disease 2E (CMT2E) harboring a heterozygous p.Asn98Ser (p.N98S) Nefl mutation, whose human counterpart results in a severe, early-onset neuropathy.
|
29940160 |
2018 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We examined CMT1A duplication of 17p11.2-p12, mutations of PMP22, MPZ (P0), GJB1 (Cx32), EGR2 and NEFL genes in 57 Korean families with patients diagnosed as having Charcot-Marie-Tooth (CMT) disease.
|
15241803 |
2004 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We demonstrated that the Charcot-Marie-Tooth-linked neurofilament light mutations: (i) affect the axonal transport of mutant neurofilaments; (ii) have a dominant-negative effect on the transport of wild-type neurofilaments; (iii) affect the transport of mitochondria and the anterograde axonal transport marker human amyloid precursor protein; (iv) result in alterations of retrograde axonal transport and (v) cause fragmentation of the Golgi apparatus.
|
15857389 |
2005 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the NEFL N98S mutation is associated with a DI-CMT phenotype characterized by early-onset sensorimotor neuropathy delaying motor milestones, which may evolve into a severe and complex clinical picture including cerebellar ataxia.
|
26645395 |
2016 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
LHGDN |
Using cultured cells and in vitro assays, we analyzed the filament formation ability of Pro22 CMT mutant proteins of NF-L, P22S and P22T.
|
16452125 |
2006 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
To perform a cross-sectional study to determine whether plasma neurofilament light chain (NfL) concentration is elevated in patients with Charcot-Marie-Tooth disease (CMT) and if it correlates with disease severity.
|
29321234 |
2018 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (<i>NEFL</i>).
|
28501821 |
2017 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
This study demonstrated normal function of the low-molecular-weight neurofilament protein (NFL) in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease (CMT) due to mutations in the Nefl gene.
|
22155564 |
2012 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The variant alleles in the NF-L gene could influence the developing process of CMT phenotype and also might cause CMT phenotype.
|
12477167 |
2002 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
|
14733962 |
2004 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Six novel CMT-associated gene mutations including BSCL2 (c.461C>T), LITAF (c.32C>G), MFN2 (c.497C>T), GARS (c.794C>T), NEFL (c.280C>T), and MPZ (c.440T>C) were discovered.
|
27862672 |
2017 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Recently a set of mutations in the neurofilament light gene (NF-L) was reported in patients suffering from axonal and demyelinating forms of Charcot-Marie-Tooth disease (CMT1 and CMT2).
|
15535039 |
2004 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that alterations in the formation of a normal IF network in neurons elicited by these NFL mutations may contribute to the development of Charcot-Marie-Tooth neuropathy.
|
12432080 |
2002 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
LHGDN |
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
|
18758688 |
2008 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the neurofilament light chain (NEFL) gene mostly cause autosomal dominant axonal Charcot-Marie- Tooth neuropathy (CMT2E).
|
24887401 |
2014 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
|
12566280 |
2003 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
iPSC lines from patients with two distinct forms of axonal CMT (CMT2A and CMT2E) were differentiated into spinal cord motor neurons and used to study axonal structure and function and electrophysiological properties in vitro.
|
25448007 |
2015 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
In the context of inherited neuropathy, giant axons are typically associated with autosomal recessive giant axonal neuropathy caused by gigaxonin mutations but have also been reported in association with NEFL- and SH3TC2-associated Charcot-Marie-Tooth disease.
|
22734908 |
2012 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
In summary, we developed a human tridimensional in vitro system that models length-dependent axonopathies, recapitulates key pathophysiologic features of CMT2E, and should facilitate the identification of new therapeutic compounds for CMT.
|
31715019 |
2019 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
In MPZ-associated CMT, increased CSAs were found in the median nerve at wrist and in the great auricular nerve, whereas it was not increased in patients with NEFL-associated CMT.
|
25091364 |
2015 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Hearing impairment is often linked to CMT due to pathogenic variants of NEFL, especially p.(Glu90Lys) and p.(Asn98Ser), and in our case p.(Glu90Gly).
|
30734407 |
2019 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
For example, neurofilament light protein (NEFL) mutants causing Charcot-Marie-Tooth disease induce misassembly of neurofilaments.
|
23618875 |
2013 |
|
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
Early sensory pathology in CMT2E could provide a unifying hypothesis for the convergence of pathology observed in CMT.
|
27643807 |
2017 |