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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/28695207/peripheral-myelin-protein-22-alters-membrane-architecture
#4
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/28678038/new-developments-in-charcot-marie-tooth-neuropathy-and-related-diseases
#5
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
#6
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
#7
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
#8
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
#9
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/28660751/clinical-and-genetic-diversities-of-charcot-marie-tooth-disease-with-mfn2-mutations-in-a-large-case-study
#10
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/28654681/abnormal-neurofilament-inclusions-and-segregations-in-dorsal-root-ganglia-of-a-charcot-marie-tooth-type-2e-mouse-model
#11
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
#12
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/28633435/mcm3ap-in-recessive-charcot-marie-tooth-neuropathy-and-mild-intellectual-disability
#13
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
#14
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
https://www.readbyqxmd.com/read/28632967/prevalence-and-orthopedic-management-of-foot-and-ankle-deformities-in-charcot-marie-tooth-disease
#15
Matilde Laurá, Dishan Singh, Gita Ramdharry, Jasper Morrow, Mariola Skorupinska, Davide Pareyson, Joshua Burns, Richard A Lewis, Steven S Scherer, David N Herrmann, Nicholas Cullen, Christopher Bradish, Luca Gaiani, Nicolò Martinelli, Paul Gibbons, Glenn Pfeffer, Phinit Phisitkul, Keith Wapner, James Sanders, Sam Flemister, Michael E Shy, Mary M Reilly
INTRODUCTION: Foot deformities are frequent complications in Charcot-Marie-Tooth disease (CMT) patients, often requiring orthopedic surgery. However, there are no prospective, randomized studies on surgical management, and there is variation in the approaches among centers both within and between countries. METHODS: In this study we assessed the frequency of foot deformities and surgery among patients recruited into the Inherited Neuropathies Consortium (INC). We also designed a survey addressed to orthopedic surgeons at INC centers to determine whether surgical approaches to orthopedic complications in CMT are variable...
June 20, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28630759/the-adult-cavus-foot
#16
Carlos Maynou, Christophe Szymanski, Alexis Thiounn
Cavovarus deformity can be classified by the severity of malalignment ranging from a subtle and flexible to a severe and fixed cavovarus deformity of the foot.In the mild cavovarus foot, careful clinical assessment is required to identify the deformity.Weight-bearing radiographs are necessary to indicate the apex of the deformity and quantify the correction required.Surgery is performed when conservative measures fail and various surgical procedures have been described, including a combination of soft-tissue releases, tendon transfers and osteotomies, all with the aim of achieving a plantigrade and balanced foot...
May 2017: EFORT open reviews
https://www.readbyqxmd.com/read/28617998/schwann-cell-specific-deletion-of-the-endosomal-pi-3-kinase-vps34-leads-to-delayed-radial-sorting-of-axons-arrested-myelination-and-abnormal-erbb2-erbb3-tyrosine-kinase-signaling
#17
Anne M Logan, Anna E Mammel, Danielle C Robinson, Andrea L Chin, Alec F Condon, Fred L Robinson
The PI 3-kinase Vps34 (Pik3c3) synthesizes phosphatidylinositol 3-phosphate (PI3P), a lipid critical for both endosomal membrane traffic and macroautophagy. Human genetics have implicated PI3P dysregulation, and endosomal trafficking in general, as a recurring cause of demyelinating Charcot-Marie-Tooth (CMT) peripheral neuropathy. Here, we investigated the role of Vps34, and PI3P, in mouse Schwann cells by selectively deleting Vps34 in this cell type. Vps34-Schwann cell knockout (Vps34(SCKO) ) mice show severe hypomyelination in peripheral nerves...
September 2017: Glia
https://www.readbyqxmd.com/read/28601552/deletion-of-p2-promoter-of-gjb1-gene-a-cause-of-charcot-marie-tooth-disease
#18
R Kulshrestha, S Burton-Jones, T Antoniadi, M Rogers, Z Jaunmuktane, S Brandner, N Kiely, R Manuel, T Willis
X-linked Charcot-Marie-Tooth disease (CMT) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene. This gene has nerve specific P2 promoter that work synergistically with SOX10 and EGR2 genes to initiate transcription. Mutation in this region is known to cause Schwann cell dysfunction. A single large family of X linked peripheral neuropathy was identified in our practice. Next generation sequencing for targeted panel assay identified an upstream exon-splicing deletion identified extending from nucleotide c...
May 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28595831/-charcot-marie-tooth-disease-associated-with-hip-dysplasia-in-an-adolescent
#19
T Langlais, J-C Leonard, C Ursu, C Morin
Charcot-Marie-Tooth disease (CMT) is classified into hereditary motor and sensory neuropathy and can induce severe neuro-orthopaedics deformities, disabling at an early age. Hip dysplasia is present in 6% of CMT patients affecting preferentially CMT1 patients and can appear from the age of 8 years. The pathophysiological is paradoxical because we are confronted with proximal osteoarthritis deformations but genetics research brings use new trail. The main functional complaint is a hip joint pain during walking...
June 5, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28595321/mitochondrial-deficits-and-abnormal-mitochondrial-retrograde-axonal-transport-play-a-role-in-the-pathogenesis-of-mutant-hsp27-induced-charcot-marie-tooth-disease
#20
Bernadett Kalmar, Amy Innes, Klaus Wanisch, Alicia Koyen Kolaszynska, Amelie Pandraud, Gavin Kelly, Andrey Y Abramov, Mary M Reilly, Giampietro Schiavo, Linda Greensmith
Mutations in the small heat shock protein Hsp27, encoded by the HSPB1 gene, have been shown to cause Charcot Marie Tooth Disease type 2 (CMT-2) or distal hereditary motor neuropathy (dHMN). Protein aggregation and axonal transport deficits have been implicated in the disease. In this study, we conducted analysis of bidirectional movements of mitochondria in primary motor neuron axons expressing wild type and mutant Hsp27. We found significantly slower retrograde transport of mitochondria in Ser135Phe, Pro39Leu and Arg140Gly mutant Hsp27 expressing motor neurons than in wild type Hsp27 neurons, although anterograde movement velocities remained normal...
June 8, 2017: Human Molecular Genetics
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