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Charcot neuropathy

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https://www.readbyqxmd.com/read/28531329/alternative-stable-conformation-capable-of-protein-misinteraction-links-trna-synthetase-to-peripheral-neuropathy
#1
David Blocquel, Sheng Li, Na Wei, Herwin Daub, Mathew Sajish, Maria-Luise Erfurth, Grace Kooi, Jiadong Zhou, Ge Bai, Paul Schimmel, Albena Jordanova, Xiang-Lei Yang
While having multiple aminoacyl-tRNA synthetases implicated in Charcot-Marie-Tooth (CMT) disease suggests a common mechanism, a defect in enzymatic activity is not shared among the CMT-causing mutants. Protein misfolding is a common hypothesis underlying the development of many neurological diseases. Its process usually involves an initial reduction in protein stability and then the subsequent oligomerization and aggregation. Here, we study the structural effect of three CMT-causing mutations in tyrosyl-tRNA synthetase (TyrRS or YARS)...
May 22, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28509084/whole-exome-sequencing-identifies-a-novel-homozygous-frameshift-mutation-in-the-mtmr2-gene-as-a-causative-mutation-in-a-patient-with-charcot-marie-tooth-disease-type-4b1
#2
Tameemi Abdalla-Moady, Amir Peleg, Orit Sadeh, Khader Badarneh, Fuad Fares
Charcot-Marie-Tooth (CMT) disease refers to a heterogeneous group of axonal and demyelinating polyneuropathies, characterized by chronic motor and sensory dysfunction. CMT is the most common genetic cause of neuropathy. The present study aimed to identify the gene mutation responsible for CMT in Ashkenazi Jew (AJ) patient. Genomic DNA was extracted from whole blood leukocytes of affected family and normal subject. Whole-exome sequencing was performed using the Illumina HiSeq2500. The DNA region containing the identified mutation was amplified by PCR and sequenced using dye-terminator chemistry and the forward primer...
May 16, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28507975/charcot-fracture-in-the-calcaneus-after-total-knee-arthroplasty-a-case-report
#3
Hirokazu Takai, Katsuhiko Kiyota, Nobutake Nakane, Tomoki Takahashi
INTRODUCTION: Only a few reports have described calcaneus fractures after total knee arthroplasty (TKA). Therefore, in this report, we describe a case of calcaneal avulsion fracture that occurred 5 weeks after a TKA in a relatively young male patient with syphilis. CASE REPORT: A 63-year-old man with syphilis had Charcot joint of the right knee. The patient developed severe varus deformity and contracture and experienced severe pain in the knee. TKA was performed to alleviate the pain and improve the patient's gait...
November 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28500667/magnetic-resonance-neurography-and-diffusion-tensor-imaging-of-the-peripheral-nerves-in-patients-with-cmt-type-1a
#4
Michael Vaeggemose, Signe Vaeth, Mirko Pham, Steffen Ringgaard, Uffe B Jensen, Hatice Tankisi, Niels Ejskjaer, Sabine Heiland, Henning Andersen
INTRODUCTION: Investigation of peripheral neuropathies by magnetic resonance neurography (MRN) may provide increased diagnostic accuracy when performed in combination with diffusion tensor imaging (DTI). The aim of this study was to evaluate DTI in the detection of neuropathic abnormalities in Charcot-Marie-Tooth-type-1A (CMT1A). METHODS: MR imaging of the sciatic and tibial nerves, including MRN and DTI, was prospectively performed in 15 CMT1A patients and 30 healthy-controls (HC)...
May 13, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28495047/similar-clinical-pathological-and-genetic-features-in-chinese-patients-with-autosomal-recessive-and-dominant-charcot-marie-tooth-disease-type-2k
#5
Jun Fu, Shixu Dai, Yuanyuan Lu, Rui Wu, Zhaoxia Wang, Yun Yuan, He Lv
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause rare subtypes of Charcot-Marie-Tooth disease (CMT2K and CMT4A). CMT2K is an axonal neuropathy while CMT4A is a demyelinating type. In a series of 169 Chinese CMT patients (79 CMT1, 52 CMT2 and 38 unclassified), four unrelated patients (2.37%) were identified with GDAP1 mutations, including two with autosomal recessive CMT2K (AR-CMT2K) and two dominant CMT2K (AD-CMT2K). All patients had disease onset before 5 years of age, and presented with muscle weakness, atrophy, and mild sensory disturbance in distal limbs...
April 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28489810/a-case-report-of-hereditary-neuropathy-with-liability-to-pressure-palsies-accompanied-by-type-2-diabetes-mellitus-and-psoriasis
#6
Jing Li, Bing Niu, Xiaoling Wang, Huaiqiang Hu, Bingzhen Cao
RATIONALE: Hereditary neuropathy with liability to pressure palsy (HNPP) is an episodic, multifocal neuropathy, with a typical clinical presentation of recurrent transient pressure palsies, which is induced by a PMP22 deletion. Another neuropathy caused by a PMP22 duplication is Charcot-Marie-Tooth disease type 1A (CMT1A). PMP22 is a gene coding a protein called peripheral myelin protein 22 (PMP22), which plays an essential role in the formation and maintenance of compact myelin. Coexistence of type 2 diabetes mellitus (T2DM) and CMT1A has been reported in many work, however HNPP patients with T2DM are rare, and comorbidity of HNPP and psoriasis has not been reported previously...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28476389/diabetic-driving-studies-part-3-a-comparison-of-mean-brake-response-time-between-neuropathic-diabetic-drivers-with-and-without-foot-pathology
#7
Laura E Sansosti, Kerianne E Spiess, Andrew J Meyr
We have previously demonstrated an abnormally delayed mean brake response time and an increased frequency of abnormally delayed brake responses in a group of neuropathic diabetic drivers compared with a control group of drivers with neither diabetes nor lower extremity neuropathy. The objective of the present case-control study was to compare the mean brake response time between neuropathic diabetic drivers with and without specific diabetic foot pathology. The braking performances of the participants were evaluated using a computerized driving simulator with specific measurement of the mean brake response time and the frequency of abnormally delayed brake responses...
May 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28469666/anatomical-distributional-defects-in-mutant-genes-associated-with-dominant-intermediate-charcot-marie-tooth-disease-type-c-in-an-adenovirus-mediated-mouse-model
#8
SeoJin Lee, Sandesh Panthi, Hyun Woo Jo, Jaeyoung Cho, Min-Sik Kim, Na Young Jeong, In Ok Song, Junyang Jung, Youngbuhm Huh
Dominant intermediate Charcot-Marie-Tooth disease type C (DI-CMTC) is a dominantly inherited neuropathy that has been classified primarily based on motor conduction velocity tests but is now known to involve axonal and demyelination features. DI-CMTC is linked to tyrosyl-tRNA synthetase (YARS)-associated neuropathies, which are caused by E196K and G41R missense mutations and a single de novo deletion (153-156delVKQV). It is well-established that these YARS mutations induce neuronal dysfunction, morphological symptoms involving axonal degeneration, and impaired motor performance...
March 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28469099/clinical-and-genetic-features-of-chinese-x-linked-charcot-marie-tooth-type-1-disease
#9
Yuan-Yuan Lu, He Lyu, Su-Qin Jin, Yue-Huan Zuo, Jing Liu, Zhao-Xia Wang, Wei Zhang, Yun Yuan
BACKGROUND: X-linked Charcot-Marie-Tooth type 1 (CMT1X) disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein (GJB1) gene (also known as connexin 32). This study presented the clinical and genetic features of a series of Chinese patients with GJB1 gene mutations. METHODS: A total of 22 patients from unrelated families, who were referred to Department of Neurology, Peking University First Hospital from January 2005 to January 2016, were identified with GJB1 mutations...
May 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28466468/loss-of-dynamin-2-gtpase-function-results-in-microcytic-anaemia
#10
Fiona C Brown, Michael Collett, Cedric S Tremblay, Gerhard Rank, Pietro De Camilli, Carmen J Booth, Marc Bitoun, Phillip J Robinson, Benjamin T Kile, Stephen M Jane, David J Curtis
In a dominant mouse ethylnitrosurea mutagenesis screen for genes regulating erythropoiesis, we identified a pedigree with a novel microcytic hypochromia caused by a V235G missense mutation in Dynamin 2 (Dnm2). Mutations in Dnm2, a GTPase, are highly disease-specific and have been implicated in four forms of human diseases: centronuclear myopathy, Charcot-Marie Tooth neuropathy and, more recently, T-cell leukaemia and Hereditary Spastic Paraplegia, but red cell abnormalities have not been reported to date. The V235G mutation lies within a crucial GTP nucleotide-binding pocket of Dnm2, and resulted in defective GTPase activity and incompatibility with life in the homozygous state...
May 3, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28448704/-retrograde-intramedullary-nail-fixation-for-charcot-neuroarthropathy
#11
E López-Gavito, N A Gómez-Fuentes, P Parra-Téllez, M Lezama-Peniche, J Vázquez-Escamilla, S R León-Hernández
Charcot arthropathy is defined as an articular degenerative, chronic, progressive disease that affects one or more peripheral joints, develops as a result of a failure in the normal sensory perception (pain and proprioception) in the innervation of joints located in the foot and ankle, is characterized by destructive bone lesions without the presence of infection. Neuropathy is directly associated with diabetes mellitus type 1 and 2. Surgery is indicated when there is severe involvement of soft tissue, foot joints are unstable, at the presence of chronic or recurrent ulcers or when the foot and ankle can not fit to a normal shoe, and had limitation to perform activities of daily living...
September 2016: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/28448691/clinical-characterization-and-genetic-analysis-of-korean-patients-with-x-linked-charcot-marie-tooth-disease-type-1
#12
Young Bin Hong, Jin-Mo Park, Jin Seok Yu, Da Hye Yoo, Da Eun Nam, Hyung Jun Park, Ji-Su Lee, Sun Hee Hwang, Ki Wha Chung, Byung-Ok Choi
Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families. Genetic analysis revealed a total of 43 mutations including 6 novel mutations. Ten mutations were found from two or more unrelated families. p.V95M was most frequently observed...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28438772/severe-vincristine-induced-polyneuropathy-in-a-teenager-with-anaplastic-medulloblastoma-and-undiagnosed-charcot-marie-tooth-disease
#13
Yasmin Aghajan, Janet M Yoon, John Ross Crawford
Severe neuropathy is a known adverse effect of vincristine in patients with Charcot-Marie-Tooth disease (CMT). We present the case of a 16-year-old girl with anaplastic medulloblastoma treated with gross total resection and high-dose craniospinal radiation with adjuvant vincristine chemotherapy who developed acute-onset severe quadriplegia and vocal cord paralysis. Vincristine and radiation therapy were discontinued. Although her neuropathy slowly improved over several weeks, she developed metastatic extraneural medulloblastoma and died 5 months after diagnosis...
April 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28382305/pmp22-exon-4-deletion-causes-er-retention-of-pmp22-and-a-gain-of-function-allele-in-cmt1e
#14
David S Wang, Xingyao Wu, Yunhong Bai, Craig Zaidman, Tiffany Grider, John Kamholz, James R Lupski, Anne M Connolly, Michael E Shy
OBJECTIVE: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain-of-function mutation associated with peripheral neuropathy in a family with Charcot-Marie-Tooth disease type 1E. METHODS: Two siblings previously reported to have genomic rearrangements predicted to involve exon 4 of PMP22 were evaluated clinically and by electrophysiology. Skin biopsies from the proband were studied by RT-PCR to determine the effects of the exon 4 rearrangements on exon 4 mRNA expression in myelinating Schwann cells...
April 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28379183/rapid-identification-of-pathogenic-variants-in-two-cases-of-charcot-marie-tooth-disease-by-gene-panel-sequencing
#15
Chi-Chun Ho, Shuk-Mui Tai, Edmond Chi-Nam Lee, Timothy Shin-Heng Mak, Timothy Kam-Tim Liu, Victor Wai-Lun Tang, Wing-Tat Poon
Charcot-Marie-Tooth disease (CMT) is a common inherited peripheral neuropathy affecting up to 1 in 1214 of the general population with more than 60 nuclear genes implicated in its pathogenesis. Traditional molecular diagnostic pathways based on relative prevalence and clinical phenotyping are limited by long turnaround time, population-specific prevalence of causative variants and inability to assess multiple co-existing variants. In this study, a CMT gene panel comprising 27 genes was used to uncover the pathogenic mutations in two index patients...
April 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28374912/a-computational-approach-to-identify-a-potential-alternative-drug-with-its-positive-impact-towards-pmp22
#16
Ashish Kumar Agrahari, George Priya Doss C
Mutations in the peripheral myelin protein 22 (PMP22) leads to Charcot Marie Tooth type 1A (CMT1A, a subtype of CMT1) disease which is the most common inherited neuropathy of peripheral nervous system. In the present study, we used series of in silico prediction methods to screen and identify the most deleterious non-synonymous SNPs (nsSNPs) in PMP22 gene. Out of 48 nsSNPs, five nsSNPs (L16P, L19P, T23R, W28R & L147R) associated with PMP22 were predicted to be highly deleterious and destabilizing the protein...
April 4, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28364294/intermediate-charcot-marie-tooth-disease-an-electrophysiological-reappraisal-and-systematic-review
#17
REVIEW
José Berciano, Antonio García, Elena Gallardo, Kristien Peeters, Ana L Pelayo-Negro, Silvia Álvarez-Paradelo, José Gazulla, Miriam Martínez-Tames, Jon Infante, Albena Jordanova
Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy with great variety of phenotypes, inheritance patterns, and causative genes. 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. In each category, transmission may be autosomal dominant, autosomal recessive, or X-linked. The nosology of intermediate CMT is controversial because of concerns about electrophysiological delimitation...
March 31, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28356555/prevalence-of-polymorphisms-in-opg-rankl-and-rank-as-potential-markers-for-charcot-arthropathy-development
#18
Bożena Bruhn-Olszewska, Anna Korzon-Burakowska, Grzegorz Węgrzyn, Joanna Jakóbkiewicz-Banecka
Charcot arthropathy is one of the most serious complications of diabetic foot syndrome that leads to amputation of the affected limb. Since there is no cure for Charcot arthropathy, early diagnosis and implementation preventive care are the best available treatment. However, diagnosis is hindered by obscure clinical picture of the disease and lack of molecular markers for its early detection. Results of recent research suggest that OPG-RANKL-RANK axis regulating bone metabolism can be associated with Charcot arthropathy and that SNPs in OPG gene are associated with the disease...
March 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28355569/severity-of-demyelinating-and-axonal-neuropathy-mouse-models-is-modified-by-genes-affecting-structure-and-function-of-peripheral-nodes
#19
Kathryn H Morelli, Kevin L Seburn, David G Schroeder, Emily L Spaulding, Loiuse A Dionne, Gregory A Cox, Robert W Burgess
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited polyneuropathies. Mutations in 80 genetic loci can cause forms of CMT, resulting in demyelination and axonal dysfunction. The clinical presentation, including sensory deficits, distal muscle weakness, and atrophy, can vary greatly in severity and progression. Here, we used mouse models of CMT to demonstrate genetic interactions that result in a more severe neuropathy phenotype. The cell adhesion molecule Nrcam and the Na(+) channel Scn8a (NaV1...
March 28, 2017: Cell Reports
https://www.readbyqxmd.com/read/28351971/trk-receptor-signaling-and-sensory-neuron-fate-are-perturbed-in-human-neuropathy-caused-by-gars-mutations
#20
James N Sleigh, John M Dawes, Steven J West, Na Wei, Emily L Spaulding, Adriana Gómez-Martín, Qian Zhang, Robert W Burgess, M Zameel Cader, Kevin Talbot, Xiang-Lei Yang, David L Bennett, Giampietro Schiavo
Charcot-Marie-Tooth disease type 2D (CMT2D) is a peripheral nerve disorder caused by dominant, toxic, gain-of-function mutations in the widely expressed, housekeeping gene, GARS The mechanisms underlying selective nerve pathology in CMT2D remain unresolved, as does the cause of the mild-to-moderate sensory involvement that distinguishes CMT2D from the allelic disorder distal spinal muscular atrophy type V. To elucidate the mechanism responsible for the underlying afferent nerve pathology, we examined the sensory nervous system of CMT2D mice...
April 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
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