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https://www.readbyqxmd.com/read/28709447/cryptic-amyloidogenic-elements-in-mutant-nefh-causing-charcot-marie-tooth-2-trigger-aggresome-formation-and-neuronal-death
#1
Arnaud Jacquier, Cécile Delorme, Edwige Belotti, Raoul Juntas-Morales, Guilhem Solé, Odile Dubourg, Marianne Giroux, Claude-Alain Maurage, Valérie Castellani, Adriana Rebelo, Alexander Abrams, Stephan Züchner, Tanya Stojkovic, Laurent Schaeffer, Philippe Latour
Neurofilament heavy chain (NEFH) gene was recently identified to cause autosomal dominant axonal Charcot-Marie-Tooth disease (CMT2cc). However, the clinical spectrum of this condition and the physio-pathological pathway remain to be delineated. We report 12 patients from two French families with axonal dominantly inherited form of CMT caused by two new mutations in the NEFH gene. A remarkable feature was the early involvement of proximal muscles of the lower limbs associated with pyramidal signs in some patients...
July 14, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28708278/whole-exome-sequencing-is-a-valuable-diagnostic-tool-for-inherited-peripheral-neuropathies-outcomes-from-a-cohort-of-50-families
#2
Taila Hartley, Justin D Wagner, Jodi Warman-Chardon, Martine Tétreault, Lauren Brady, Steven Baker, Mark Tarnopolsky, Pierre R Bourque, Jillian S Parboosingh, Christopher Smith, Brenda McInnes, A Micheil Innes, Francois Bernier, Cynthia J Curry, Grace Yoon, Gabriella A Horvath, Eric Bareke, Jacek Majewski, Dennis E Bulman, David A Dyment, Kym M Boycott
The inherited peripheral neuropathies (IPNs) are characterized by marked clinical and genetic heterogeneity and include relatively frequent presentations such as Charcot-Marie-Tooth disease and hereditary motor neuropathy, as well as more rare conditions where peripheral neuropathy is associated with additional features. There are over 250 genes known to cause IPN-related disorders but it is estimated that in ~50% of affected individuals a molecular diagnosis is not achieved. In this study, we examine the diagnostic utility of whole-exome sequencing (WES) in a cohort of 50 families with one or more affected individuals with a molecularly undiagnosed IPN with or without additional features...
July 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28704293/analysis-of-neural-crest-cells-from-charcot-marie-tooth-disease-patients-demonstrates-disease-relevant-molecular-signature
#3
Fukiko Kitani-Morii, Keiko Imamura, Takayuki Kondo, Ryo Ohara, Takako Enami, Ran Shibukawa, Takuya Yamamoto, Kazuya Sekiguchi, Junya Toguchida, Toshiki Mizuno, Masanori Nakagawa, Haruhisa Inoue
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. The majority of CMT is demyelinating type (demyelinating CMT) caused by Schwann cell involvement. Although a large number of genes responsible for demyelinating CMT have been found, the common molecular target of the pathophysiology caused by these different genes in demyelinating CMT is still unknown. We generated induced pluripotent stem cells (iPSCs) from healthy controls and patients with demyelinating CMT caused by duplication in peripheral myelin protein 22 kDa (PMP22) or point mutations in myelin protein zero (MPZ) or early growth response 2 (EGR2)...
July 12, 2017: Neuroreport
https://www.readbyqxmd.com/read/28702256/physician-knowledge-of-a-rare-foot-condition-influence-of-diabetic-patient-population-on-self-described-knowledge-and-treatment
#4
Brian M Schmidt, James S Wrobel, Crystal M Holmes
BACKGROUND: Charcot neuroarthopathy (CN), a rare foot and ankle condition usually complicating diabetes mellitus, leads to deformity, poor quality of life, and increased mortality and morbidity. The prevalence of this condition in the diabetic patient population is not currently known but has been reportedly misdiagnosed in up to 95% of cases. METHODS: We sought to evaluate general knowledge regarding CN in non-foot specialist clinical faculty at a large academic institution and to understand their practice habits...
2017: Clinical Diabetes and Endocrinology
https://www.readbyqxmd.com/read/28695207/peripheral-myelin-protein-22-alters-membrane-architecture
#5
Kathleen F Mittendorf, Justin T Marinko, Cheri M Hampton, Zunlong Ke, Arina Hadziselimovic, Jonathan P Schlebach, Cheryl L Law, Jun Li, Elizabeth R Wright, Charles R Sanders, Melanie D Ohi
Peripheral myelin protein 22 (PMP22) is highly expressed in myelinating Schwann cells of the peripheral nervous system. PMP22 genetic alterations cause the most common forms of Charcot-Marie-Tooth disease (CMTD), which is characterized by severe dysmyelination in the peripheral nerves. However, the functions of PMP22 in Schwann cell membranes remain unclear. We demonstrate that reconstitution of purified PMP22 into lipid vesicles results in the formation of compressed and cylindrically wrapped protein-lipid vesicles that share common organizational traits with compact myelin of peripheral nerves in vivo...
July 2017: Science Advances
https://www.readbyqxmd.com/read/28682731/end-stage-renal-disease-negatively-affects-physical-quality-of-life-in-patients-with-diabetic-foot-complications
#6
Katherine M Raspovic, Junho Ahn, Javier La Fontaine, Larry A Lavery, Dane K Wukich
The aim of this study was to evaluate the impact of end-stage renal disease (ESRD) on health-related quality of life (QOL) in patients with diabetic foot disease. We compared a group of 30 diabetic patients with ESRD requiring dialysis to a group of 60 diabetic patients without ESRD. Both groups consisted of patients with active diabetic foot disease (ulcer, Charcot, infection) and were matched with regard to age and gender. Self-reported QOL was assessed using the Short Form-36 (SF-36) physical and mental component summary (PCS and MCS) scores and the region-specific Foot and Ankle Ability Measure (FAAM)...
June 2017: International Journal of Lower Extremity Wounds
https://www.readbyqxmd.com/read/28678038/new-developments-in-charcot-marie-tooth-neuropathy-and-related-diseases
#7
Davide Pareyson, Paola Saveri, Chiara Pisciotta
PURPOSE OF REVIEW: Charcot-Marie-Tooth disease (CMT) and related neuropathies represent a heterogeneous group of hereditary disorders. The present review will discuss the most recent advances in the field. RECENT FINDINGS: Knowledge of CMT epidemiology and frequency of the main associated genes is increasing, with an overall prevalence estimated at 10-28/100 000. In the last years, the huge number of newly uncovered genes, thanks to next-generation sequencing techniques, is challenging the current classification of CMT...
July 3, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28677541/generation-of-induced-pluripotent-stem-cell-ipsc-line-from-a-36-year-old-charcot-marie-tooth-disease-patient-with-gjb1-mutation-cmtx
#8
Daryeon Son, Phil Jun Kang, Wonjin Yun, Seungkwon You
Charcot-Marie-Tooth disease (CMTX) is inherited neurological disorder caused by gap junction beta 1 gene (GJB1) mutation. We generated induced pluripotent stem cell (iPSC) line from 36-year-old CMTX disease patient by electroporation of skin fibroblasts with episomal vectors encoding OCT4, SOX2, KLF4, L-MYC, LIN28 and shRNA-p53. Established iPSCs expressed various pluripotency markers, had differentiation potential of three germ layers in vitro, had normal karyotype and retained GJB1 mutation. This CMT patient-derived iPSC line could be useful in vitro tool for CMTX research as disease modeling and drug development...
May 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28675565/compound-heterozygosity-for-loss-of-function-gars-variants-results-in-a-multisystem-developmental-syndrome-that-includes-severe-growth-retardation
#9
Stephanie N Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, Gretchen Golas, Thomas C Markello, David R Adams, Camilo Toro, Andrea L Gropman, Ya-Ming Hou, May Christine V Malicdan, William A Gahl, Cynthia J Tifft, Anthony Antonellis
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes that ligate amino acids onto tRNA molecules. Genes encoding ARSs have been implicated in myriad dominant and recessive disease phenotypes. Glycyl-tRNA synthetase (GARS) is a bifunctional ARS that charges tRNA(Gly) in the cytoplasm and mitochondria. GARS variants have been associated with dominant Charcot-Marie-Tooth disease but have not been convincingly implicated in recessive phenotypes. Here, we describe a patient from the NIH Undiagnosed Diseases Program with a multisystem, developmental phenotype...
July 4, 2017: Human Mutation
https://www.readbyqxmd.com/read/28673555/brain-involvement-in-charcot-marie-tooth-disease-due-to-ganglioside-induced-differentiation-associated-protein-1-mutation
#10
Fouad Al-Ghamdi, Irina Anselm, Edward Yang, Partha S Ghosh
Charcot-Marie-Tooth (CMT) due to ganglioside-induced differentiation associated-protein 1 (GDAP1) gene mutation can be inherited as an autosomal recessive (severe phenotype) or dominant (milder phenotype) disorder. GDAP1 protein, located in the outer mitochondrial membrane, is involved in the mitochondrial fission. Brain imaging abnormalities have not been reported in this condition. We described an 8-year-old boy who had an early onset autosomal recessive neuropathy. Whole exome sequencing revealed compound heterozygous mutations in the GDAP1 gene: c...
June 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28669366/effects-of-self-selected-exercise-on-strength-in-charcot-marie-tooth-disease-subtypes
#11
Djurdja Djordjevic, Sabrina Fell, Steven Baker
BACKGROUND: Preliminary studies have supported the utility of exercise as a treatment for Charcot-Marie-Tooth disease (CMT) patients. Despite being the most common inherited neuropathy, there remains a paucity of guidelines for CMT management. METHODS: A retrospective chart review was performed on 297 CMT patients. Self-reported exercise and strength results from standardized dynamometer testing were obtained from adult patients' first visits. Values were converted and analyzed based on previously reported age- and sex-matched normative values...
July 3, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28668579/a-candidate-imaging-marker-for-early-detection-of-charcot-neuroarthropathy
#12
Paul K Commean, Kirk E Smith, Charles F Hildebolt, Kathryn L Bohnert, David R Sinacore, Fred W Prior
Inflammation-mediated foot osteopenia may play a pivotal role in the etiogenesis, pathogenesis, and therapeutic outcomes in individuals with diabetes mellitus (DM), peripheral neuropathy (PN), and Charcot neuroarthropathy (CN). Our objective was to establish a volumetric quantitative computed tomography-derived foot bone measurement as a candidate prognostic imaging marker to identify individuals with DMPN who were at risk of developing CN. We studied 3 groups: 16 young controls (27 ± 5 years), 20 with DMPN (57 ± 11 years), and 20 with DMPN and CN (55 ± 9 years)...
June 28, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28660751/clinical-and-genetic-diversities-of-charcot-marie-tooth-disease-with-mfn2-mutations-in-a-large-case-study
#13
Masahiro Ando, Akihiro Hashiguchi, Yuji Okamoto, Akiko Yoshimura, Yu Hiramatsu, Junhui Yuan, Yujiro Higuchi, Jun Mitsui, Hiroyuki Ishiura, Ayako Umemura, Koichi Maruyama, Takeshi Matsushige, Shinichi Morishita, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima
Charcot-Marie-Tooth disease (CMT) constitutes a heterogeneous group affecting motor and sensory neurons in the peripheral nervous system. MFN2 mutations are the most common cause of axonal CMT. We describe the clinical and mutational spectra of CMT patients harboring MFN2 mutations in Japan. We analyzed 1334 unrelated patients with clinically suspected CMT referred by neurological and neuropediatric departments throughout Japan. We conducted mutation screening using a DNA microarray, targeted resequencing, and whole-exome sequencing...
June 29, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28658411/charcot-s-irony-and-sarcasm
#14
Hélio A G Teive, Francisco M B Germiniani, Renato P Munhoz
Jean-Martin Charcot is considered the father of modern neurology and was the first neurologist to hold a professorship of international stature devoted to the study of the diseases of the nervous system. His biographers paint an image of an austere presence, reserved manner, shyness, economy of gestures and an impenetrable, impassive face. However, a wry and sarcastic side of Charcot can be demonstrated in several situations, and these examples help to clarify the intricacies of his personality and work style...
June 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28654681/abnormal-neurofilament-inclusions-and-segregations-in-dorsal-root-ganglia-of-a-charcot-marie-tooth-type-2e-mouse-model
#15
Jian Zhao, Kristy Brown, Ronald K H Liem
Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy is the most prevalent inherited peripheral neuropathy and is associated with over 90 causative genes. Mutations in neurofilament light polypeptide gene, NEFL cause CMT2E, an axonal form of CMT that results in abnormal structures and/or functions of peripheral axons in spinal cord motor neurons and dorsal root ganglion neurons. We have previously generated and characterized a knock-in mouse model of CMT2E with the N98S mutation in Nefl that presented with multiple inclusions in spinal cord neurons...
2017: PloS One
https://www.readbyqxmd.com/read/28642160/a-novel-missense-variant-gln220arg-of-gnb4-encoding-guanine-nucleotide-binding-protein-subunit-beta-4-in-a-japanese-family-with-autosomal-dominant-motor-and-sensory-neuropathy
#16
Shiroh Miura, Takuya Morikawa, Ryuta Fujioka, Kazuhito Noda, Kengo Kosaka, Takayuki Taniwaki, Hiroki Shibata
Dominant intermediate Charcot-Marie-Tooth disease F (CMTDIF) is an autosomal dominant hereditary form of Charcot-Marie-Tooth disease (CMT) caused by variations in the guanine nucleotide-binding protein, subunit beta-4 gene (GNB4). We examined two Japanese familial cases with CMT. Case 1 was a 49-year-old male whose chief complaint was slowly progressive gait disturbance and limb dysesthesia that appeared at the age of 47. On neurological examination, he showed hyporeflexia or areflexia, distal limb muscle weakness, and distal sensory impairment with lower dominancy...
June 19, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28633781/beaming-in-charcot-arthropathy-intramedullary-fixation-for%C3%A2-complicated-reconstructions-a-cadaveric-study
#17
Corey M Fidler, Benjamin C Watson, Christopher W Reb, Christopher F Hyer
In the modern treatment of Charcot neuroarthropathy, beam screw fixation is an alternative to plate and screw fixation. Exposure is minimized for implantation, and this technique supports the longitudinal columns of the foot as a rigid load-sharing construct. A published data review identified a paucity of data regarding metatarsal intramedullary canal morphology relevant to beam screw fixation. The purpose of the present study was to describe metatarsal diaphyseal morphology qualitatively and quantitatively in an effort to provide data that can be used by surgeons when selecting axially based intramedullary fixation...
July 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28633771/relationship-of-cuboid-height-to-plantar-ulceration-and-other-radiographic-parameters-in-midfoot-charcot-neuroarthropathy
#18
Andrew J Meyr, Joshua A Sebag
The objective of the present investigation was to examine the effect of cuboid height on the presence of plantar midfoot ulceration and the relationship of cuboid height to other commonly performed radiographic parameters during evaluation of midfoot Charcot neuroarthropathy. A retrospective analysis was performed of 68 feet in 60 subjects who met the inclusion criteria. We did not observe statistically significant differences in the presence of a plantar midfoot ulceration when considering a cuboid height threshold of 0...
July 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28633435/mcm3ap-in-recessive-charcot-marie-tooth-neuropathy-and-mild-intellectual-disability
#19
Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M Ryan, Zornitza Stark, Maie Walsh, Sarah L Sawyer, Katrina M Bell, Alicia Oshlack, Paul J Lockhart, Mariia Shcherbii, Alejandro Estrada-Cuzcano, Derek Atkinson, Taila Hartley, Martine Tetreault, Inge Cuppen, W Ludo van der Pol, Ayse Candayan, Esra Battaloglu, Yesim Parman, Koen L I van Gassen, Marie-José H van den Boogaard, Kym M Boycott, Liisa Kauppi, Albena Jordanova, Tuula Lönnqvist, Henna Tyynismaa
Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal center associated nuclear protein (GANP), in nine affected individuals from five unrelated families. The variants were associated with severe childhood onset primarily axonal (four families) or demyelinating (one family) Charcot-Marie-Tooth neuropathy. Mild to moderate intellectual disability was present in seven of nine affected individuals. The affected individuals were either compound heterozygous or homozygous for different MCM3AP variants, which were predicted to cause depletion of GANP or affect conserved amino acids with likely importance for its function...
June 19, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28632987/the-usher-syndrome-type-iiib-histidyl-trna-synthetase-mutation-confers-temperature-sensitivity
#20
Jamie A Abbott, Ethan Guth, Cindy Kim, Cathy Regan, Victoria M Siu, C Anthony Rupar, Borries Demeler, Christopher S Francklyn, Susan M Robey-Bond
Histidyl-tRNA synthetase (HARS) is a highly conserved translation factor that plays an essential role in protein synthesis. HARS has been implicated in the human syndromes Charcot-Marie-Tooth (CMT) Type 2W and Type IIIB Usher (USH3B). The USH3B mutation, which encodes a Y454S substitution in HARS, is inherited in an autosomal recessive fashion and associated with childhood deafness, blindness, and episodic hallucinations during acute illness. The biochemical basis of the pathophysiologies linked to USH3B is currently unknown...
July 7, 2017: Biochemistry
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