|
Hereditary Motor and Sensory Neuropathies
|
0.220 |
Biomarker
|
group |
MGD |
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
|
25552649 |
2015 |
|
Hereditary Motor and Sensory Neuropathies
|
0.220 |
GeneticVariation
|
group |
BEFREE |
Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs.
|
25583183 |
2014 |
|
Hereditary Motor and Sensory Neuropathies
|
0.220 |
GeneticVariation
|
group |
BEFREE |
The recognized CMT2 genotypes include: CMT2A (mapped to chromosome 1p35-36); CMT2B (3q13-22); CMT2C (with vocal cord paresis); CMT2D (7p14); CMT2E, related to a mutation in the NF-L gene on chromosome 8p21; proximal CMT2, or HMSN P (3q13.1); CMT2 with MPZ mutations; autosomal recessive CMT2 (1q21.2-q21.3); agenesis of the corpus callosum with sensorimotor neuronopathy (15q13-q15); CMT2 X-linked with deafness and mental retardation (Xq24-q26).
|
11231025 |
2001 |
|
Peripheral Neuropathy
|
0.120 |
Biomarker
|
group |
BEFREE |
Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6).
|
26556829 |
2016 |
|
Peripheral Neuropathy
|
0.120 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
Peripheral Neuropathy
|
0.120 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
Peripheral Neuropathy
|
0.120 |
AlteredExpression
|
group |
BEFREE |
Elevated neurofilament light chain (NFL) mRNA levels in prediabetic peripheral neuropathy.
|
24733614 |
2014 |
|
nervous system disorder
|
0.100 |
AlteredExpression
|
group |
BEFREE |
We conducted a study including 60 sporadic and 19 familial ALS patients, 206 reference patients with other neurological disorders and 40 age- and sex-matched healthy controls to test the hypothesis that cerebrospinal fluid (CSF) levels of neurofilament light (NF-L) protein, a marker of axonal degeneration, might provide diagnostic and prognostic information on the disease.
|
17903209 |
2007 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Taken together, our results reveal that as well as acting as reliable biomarkers of neuronal damage, antibodies to NF-L exacerbate neurological disease, suggesting that antibodies to NF-L generated during disease may also be pathogenic and play a role in the progression of neurodegeneration.
|
28718500 |
2017 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Neurofilament light chain as a biomarker in neurological disorders.
|
30967444 |
2019 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Elevated levels of the cerebrospinal fluid (CSF) neuronal injury markers (neurofilament light chain [NF-L] and total tau protein [t-tau]) and of the astroglial marker glial fibrillary acidic protein (GFAP) are found in etiologically different neurological disorders affecting the peripheral and the central nervous system.
|
31087810 |
2019 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
We examined whether NF-L is elevated differentially following uncomplicated mTBI in older adults with pre-injury neurological disorders.
|
30843469 |
2019 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Here, we review what is known about the structure and function of neurofilaments, discuss analytical aspects and knowledge of age-dependent normal ranges of neurofilaments and provide a comprehensive overview of studies on neurofilament light chain as a marker of axonal injury in different neurological disorders, including multiple sclerosis, neurodegenerative dementia, stroke, traumatic brain injury, amyotrophic lateral sclerosis and Parkinson disease.
|
30171200 |
2018 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Increased CSF Neurofilament light chain (NFL) concentrations have been reported in several neurological disorders, including prion diseases.
|
30309804 |
2019 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Neurofilament light distinguished neurodegenerative or neurological disorder from psychiatric disorder with an area under the curve of 0.94 (95% confidence intervals = [0.89, 0.98]); a cut-off of 1332 pg/mL was associated with 87% sensitivity and 90% specificity.
|
31220922 |
2020 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
The cerebrospinal fluid (CSF) neurodegeneration biomarkers such as neurofilament light chain (NF-L), total tau (t-tau), and the tau pathology marker phosphorylated tau (p-tau) are related to mortality in other neurological disorders (eg, amyotrophic lateral sclerosis, Alzheimer's disease), but have not been investigated in this respect in parkinsonian disorders.
|
31070772 |
2019 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
Neurofilament light chain (NfL) is a unique biomarker related to axonal damage and neural cell death, which is elevated in a number of neurological disorders, and can be detected in cerebrospinal fluid (CSF), as well as blood, serum, or plasma samples.
|
31385229 |
2020 |
|
nervous system disorder
|
0.100 |
Biomarker
|
group |
BEFREE |
To confirm the large body of evidence for NfL, we developed a new ELISA method and here we present the performance characteristics of this new ELISA for CSF NfL in different neurological disorders.
|
29370869 |
2018 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
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 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the NF-L gene (NEFL) cause autosomal dominant neuropathies that are classified either as axonal Charcot-Marie-Tooth (CMT) type 2E (CMT2E) or demyelinating CMT type 1F (CMT1F).
|
17052987 |
2007 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the neurofilament light chain polypeptide (NEFL) gene are present in CMT2E and CMT1F neuropathies.
|
18758688 |
2008 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis.
|
31583784 |
2019 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
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 |
|
Neuropathy
|
0.100 |
Biomarker
|
group |
BEFREE |
Two proteins, neuron-specific enolase (NSE) and neurofilament light chain (NFL), have been examined previously as possible markers of neuronal damage in the pathophysiology of neuropathies.
|
24733614 |
2014 |
|
Neuropathy
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
|
14733962 |
2004 |