MAD2L1BP
|
0.100 |
Biomarker
|
disease |
BEFREE |
We identified a novel stop loss variant in NEFH that is likely pathogenic for CMT2, and the results provide further evidence for the role of an aberrant assembly of neurofilament in CMT.
|
29587262 |
2018 |
MAD2L1BP
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively.
|
29336362 |
2018 |
MAD2L1BP
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have completed the targeted NGS of 81 IPN genes in a cohort of 123 unrelated patients affected with diverse forms of IPNs, mostly Charcot-Marie-Tooth disease (CMT): 23% CMT1, 52% CMT2, 9% distal hereditary motor neuropathy, 7% hereditary sensory and autonomic neuropathy and 6.5% intermediate CMT.
|
30373780 |
2018 |
MAD2L1BP
|
0.100 |
Biomarker
|
disease |
BEFREE |
Charcot-Marie-Tooth type 2 (CMT2) neuropathy is characterised by a vast clinical and genetic heterogeneity complicating its diagnosis and therapeutic intervention.
|
29449460 |
2018 |
MAD2L1BP
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the <i>KIF5A</i> N-terminal motor domain are known to cause SPG10; An autosomal dominant hereditary spastic paraplegia (HSP), as well as rare Charcot-Marie-Tooth disease 2 (CMT2) cases.
|
30583522 |
2018 |
MAD2L1BP
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, we identified histone deacetylase 6 (HDAC6), which deacetylates α-tubulin, as a potential therapeutic target in axonal CMT (CMT2).
|
27957719 |
2017 |
MAD2L1BP
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Human CMT2-FiPS4F1 cell line was generated from fibroblasts of a patient with Charcot-Marie-Tooth disease harbouring the following mutations in the GDAP1 gene in heterozygosis: p.Q163X/p.T288NfsX3.
|
28395795 |
2017 |
MAD2L1BP
|
0.100 |
Biomarker
|
disease |
BEFREE |
Many of the genes were shared between dHMN and motor CMT2, indicating identical disease mechanisms; therefore, we suggest changing the classification and including dHMN also as a subcategory of Charcot-Marie-Tooth disease.
|
28251916 |
2017 |
MAD2L1BP
|
0.100 |
Biomarker
|
disease |
BEFREE |
According to median motor nerve conduction velocity (MNCV), CMT is divided into demyelinating (CMT1) with MNCV below 38 m/s, axonal (CMT2) with MNCV above 38 m/s, and intermediate CMT with MNCV between 25 and 45 m/s.
|
28364294 |
2017 |
MAD2L1BP
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In previous studies, MFN2 mutations have been linked to neurological disorders including CMT type 2 (CMT2).
|
26956144 |
2016 |
MAD2L1BP
|
0.100 |
Biomarker
|
disease |
BEFREE |
The overlapping clinical manifestation of CMT2 with distal hereditary motor neuropathy (dHMN) and intermediate CMT causes further diagnostic difficulties.
|
26032230 |
2015 |
MAD2L1BP
|
0.100 |
Biomarker
|
disease |
BEFREE |
We aimed to establish the importance of HINT1 mutations as the cause of hereditary neuropathy and particularly hereditary motor neuropathy/axonal Charcot-Marie-Tooth (HMN/CMT2) among Czech patients.
|
25342199 |
2015 |
MAD2L1BP
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Electroneuromyography revealed an axonal motor and sensory neuropathy in 3 different families, very evocative of type II Charcot-Marie-Tooth (CMT2) disease, although none had mutations in the known CMT2 genes.
|
24804794 |
2014 |
MAD2L1BP
|
0.100 |
Biomarker
|
disease |
BEFREE |
Charcot-Marie-Tooth (CMT) diseases include a group of clinically heterogeneous inherited neuropathies subdivided into demyelinating (CMT1), axonal (CMT2) and intermediate CMT forms.
|
24819634 |
2014 |
MAD2L1BP
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We analyzed a cohort of 197 index cases and reported the type and frequency of mutations for the whole CMT population and for each electrophysiological group (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]) and for familial and isolated CMT cases.
|
25429913 |
2014 |
MAD2L1BP
|
0.100 |
Biomarker
|
disease |
BEFREE |
Growing evidences suggest that GAN is a continuum with the peripheral neuropathy Charcot-Marie-Tooth diseases type 2 (CMT2).
|
24758703 |
2014 |
MAD2L1BP
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Otherwise, while demyelinating autosomal recessive CMT used to be classified as CMT4 (A, B, C …), we propose a simplified classification such as AR CMT1 (A, B, C …), and AR CMT2 for axonal forms.
|
25454638 |
2014 |
MAD2L1BP
|
0.100 |
Biomarker
|
disease |
BEFREE |
Charcot-Marie-Tooth disease (CMT) represents a group of neurodegenerative disorders typically characterised by demyelination (CMT1) or distal axon degeneration (CMT2) of motor and sensory neurons.
|
23840650 |
2013 |
MAD2L1BP
|
0.100 |
Biomarker
|
disease |
BEFREE |
A molecular diagnosis was achieved in 62.6% of patients with CMT attending the inherited neuropathy clinic; in 80.4% of patients with CMT1 (demyelinating CMT) and in 25.2% of those with CMT2 (axonal CMT).
|
22577229 |
2012 |
MAD2L1BP
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A total of 442 probands with CMT type 2 (CMT2) (270) and dHMN (172) were screened for MT-ATP6/8 mutations after exclusion of mutations in known CMT2/dHMN genes.
|
22933740 |
2012 |
MAD2L1BP
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CMT1 (motor conduction velocity (MCV) <38 m/s), CMT2 (MCV >38 m/s) and CMT intermediate (MCV 25-45 m/s) were found in 48.2%, 49.4% and 2.4% of the families.
|
20482598 |
2011 |
MAD2L1BP
|
0.100 |
Biomarker
|
disease |
BEFREE |
Findings obtained in the present study, broadening the spectrum of clinical manifestations of disorders associated with HSP27 mutations, support the hypothesis of a continuum between CMT2 and dHMN forms and suggest a possible common spectrum between these entities and several forms of CMT plus pyramidal features (HMSN V), providing important implications for molecular genetic testing.
|
20660910 |
2010 |
MAD2L1BP
|
0.100 |
Biomarker
|
disease |
BEFREE |
The point prevalence (January 1, 2007) for all CMT subtypes in Iceland was 12.0/10(5), 10.1/10(5) for CMT1 and 2.0/10(5) for CMT2.
|
19893324 |
2010 |
MAD2L1BP
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2).
|
20537790 |
2010 |
MAD2L1BP
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied a large family with 17 patients affected by the axonal form of CMT (CMT2).
|
20045102 |
2010 |