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Charcot + marie

Carolina S Nakada, Paula C Meningroni, Ana Claudia Silva Ferreira, Luciana Hata, Amanda C Fuzaro, Wilson Marques Júnior, João Eduardo de Araujo
The purpose of this study was to evaluate the response of the tibialis anterior muscle (TAm) using surface electromyography in patients with Charcot-Marie-Tooth disease (CMT-IA), after ipsilateral proprioceptive neuromuscular patterns (PNF). Thirteen CMT-IA patients (both sexes) were treated twice a week, for 5 weeks, with bilateral PNF pattern, four times per treatment. During the execution of the patterns, we recorded the bilateral activation of the TAm in root mean square (RMS). We used the Student paired t -test for the first and last treatments, P -value set at <0...
June 2018: Journal of Exercise Rehabilitation
Manisha Juneja, Joshua Burns, Mario A Saporta, Vincent Timmerman
Much has been achieved in terms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT). Since the identification of mutations in the first CMT associated gene, PMP22 , the technological advancement in molecular genetics and gene technology has allowed scientists to generate diverse animal models expressing monogenetic mutations that closely resemble the CMT phenotype. Additionally, one can now culture patient-derived neurons in a dish using cellular reprogramming and differentiation techniques...
July 17, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
Nicholas E Johnson, Chad Heatwole, Peter Creigh, Michael P McDermott, Nuran Dilek, Man Hung, Jerry Bounsanga, Wan Tang, Michael E Shy, David N Herrmann
OBJECTIVE: The development of a disease specific patient reported outcome for Charcot Marie Tooth disease is an important step in the preparation for therapeutic trials. This study describes the development of the Charcot Marie Tooth Health Index (CMTHI). METHODS: Inherited Neuropathy Consortium Contact Registry participants were queried on the symptoms that most impacted their lives. The CMTHI was developed based on these responses. Factor analysis, assessment of test-retest reliability, known groups validity, and patient interviews were utilized to refine the instrument...
July 16, 2018: Annals of Neurology
Qingxian Wen, Longqiao Cao, Cun Yang, Yanchen Xie
Background: Electrophysiological examination plays an important role in the diagnosis of X-linked Charcot-Marie-Tooth disease (CMTX1) with transient central nervous system deficits. However, the electrophysiological features are seldom reported. Methods: We reviewed and analyzed published reports to determine the electrophysiological features of CMTX1 patients with transient central nervous system deficits. Results: A total of 21 CMTX1 patients with transient central nervous system deficits were found in 17 published case reports/series...
2018: Frontiers in Neurology
Tonya W An, Max Michalski, Kyle Jansson, Glenn Pfeffer
BACKGROUND: There is limited consensus on the optimal operative technique for correcting heel varus in patients with Charcot-Marie-Tooth (CMT) disease. This comparative study evaluated the ability of 4 lateralizing calcaneal osteotomies, with and without Dwyer wedge resection and coronal rotation of the posterior tuberosity, to correct severe heel varus. METHODS: The computed tomography (CT) scan of a teenage CMT patient with severe hindfoot varus was used to create 3-dimensional (3D)-printed models of the talus, calcaneus, and cuboid...
June 1, 2018: Foot & Ankle International
Rui Wu, Jun Fu, Lingchao Meng, He Lv, Zhaoxia Wang, Yun Yuan
Mutations in the Mitofusin 2 (MFN2) gene have been identified in patients with autosomal dominant axonal motor and sensory neuropathy or Charcot-Marie-Tooth 2A (CMT2A). Here we describe clinical and pathological changes in an adult patient with sporadic hereditary sensory and autonomic neuropathy (HSAN) due to an MFN2 mutation. The patient was a 53-year-old man who had sensory involvement and anhidrosis in all limbs without motor features. The electrophysiological assessment documented severe axonal sensory neuropathy...
July 16, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
Marta Palomo Irigoyen, Miguel Tamayo Caro, Encarnacion Pérez Andrés, Adrián Barreira Manrique, Marta Varela Rey, Ashwin Woodhoo
Schwann cells are the main glial cells of the peripheral nervous system (PNS) and play key roles in peripheral nerve development and function, including providing myelin that is essential for normal movement and sensation in the adult. Schwann cells can be readily destabilized by a wide variety of distinct conditions that range from nerve injury to immune assaults, metabolic disturbances, microbial infections, or genetic defects, leading to the breakdown of myelin (demyelination) and a subsequent switch in phenotypic states...
2018: Methods in Molecular Biology
Kjell Arne Arntzen, Helle Høyer, Kristin Ørstavik, Chantal Tallaksen, Christian Vedeler, Rune Østern, Maria Nebuchennykh, Geir Julius Braathen, Toril Fagerheim
Autosomal recessive Charcot-Marie-Tooth disease (CMT) is considered rare and phenotypic descriptions are scarce for the different subgroups. Mutations in the SH3TC2 gene, causing recessive demyelinating CMT type 4C have been found in several Norwegian CMT patients over the last years. We aimed to estimate a minimum prevalence and to study the genotypic and phenotypic variability of CMT4C in Norway. Patients were selected from diagnostic registries in medical genetic centers in Norway for cases of CMT4C. All patients were invited to complete a questionnaire and give medical consent to the use of clinical data from medical hospital records...
June 15, 2018: Neuromuscular Disorders: NMD
Jun-Hui Yuan, Yusuke Sakiyama, Akihiro Hashiguchi, Masahiro Ando, Yuji Okamoto, Akiko Yoshimura, Yujiro Higuchi, Hiroshi Takashima
BACKGROUND: X-linked Charcot-Marie-Tooth disease type 1 (CMTX1), caused by mutations in gap junction protein beta 1 (GJB1), is characterized by various central nervous system symptoms and gender differences of clinical severity. The aim of this study is to identify the frequency and mutation spectrum of CMTX1 patients in Japan, and to demonstrate their phenotypic diversities. METHODS: Using three high-throughput sequencing systems, we performed targeted gene panel sequencing on 1,483 unrelated index patients with suspected CMT disease...
July 11, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
C Zhao, D S Fan
No abstract text is available yet for this article.
July 1, 2018: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
Ji Eun Choi, Jin Myoung Seok, Jungmin Ahn, Yoon Sang Ji, Kyung Myun Lee, Sung Hwa Hong, Byung-Ok Choi, Il Joon Moon
The aim of this study was to investigate hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1 A (CMT1A), a common inherited demyelinating neuropathy. By using pure-tone audiometry, 43 patients with CMT1A and 60 healthy controls with normal sound detection abilities were enrolled. Speech perception in quiet and noisy backgrounds, spectral ripple discrimination (SRD), and temporal modulation detection (TMD) were measured. Although CMT1A patients and healthy controls had similar pure-tone thresholds and speech perception scores in a quiet background, CMT1A patients had significantly (p < 0...
July 9, 2018: Scientific Reports
Marina L Kennerson, Alastair C Corbett, Melina Ellis, Gonzalo Perez-Siles, Garth A Nicholson
No abstract text is available yet for this article.
July 5, 2018: Brain: a Journal of Neurology
Emil Ylikallio, Rosa Woldegebriel, Henna Tyynismaa
No abstract text is available yet for this article.
July 5, 2018: Brain: a Journal of Neurology
Zhiwen Xu, Wing-Sze Lo, David B Beck, Luise A Schuch, Monika Oláhová, Robert Kopajtich, Yeeting E Chong, Charlotte L Alston, Elias Seidl, Liting Zhai, Ching-Fun Lau, Donna Timchak, Charles A LeDuc, Alain C Borczuk, Andrew F Teich, Jane Juusola, Christina Sofeso, Christoph Müller, Germaine Pierre, Tom Hilliard, Peter D Turnpenny, Matias Wagner, Matthias Kappler, Frank Brasch, John Paul Bouffard, Leslie A Nangle, Xiang-Lei Yang, Mingjie Zhang, Robert W Taylor, Holger Prokisch, Matthias Griese, Wendy K Chung, Paul Schimmel
The tRNA synthetases catalyze the first step of protein synthesis and have increasingly been studied for their nuclear and extra-cellular ex-translational activities. Human genetic conditions such as Charcot-Marie-Tooth have been attributed to dominant gain-of-function mutations in some tRNA synthetases. Unlike dominantly inherited gain-of-function mutations, recessive loss-of-function mutations can potentially elucidate ex-translational activities. We present here five individuals from four families with a multi-system disease associated with bi-allelic mutations in FARSB that encodes the beta chain of the alpha2 beta2 phenylalanine-tRNA synthetase (FARS)...
July 5, 2018: American Journal of Human Genetics
Yuanyuan Lu, Rui Wu, Lingchao Meng, He Lv, Jing Liu, Yuehuan Zuo, Wei Zhang, Yun Yuan, Zhaoxia Wang
Mitochondrial trifunctional protein deficiency (MTPD) is a rare disorder caused by mutations in the HADHA and HADHB genes. Here, we report on two Han Chinese patients with HADHB mutation-associated infantile axonal Charcot-Marie-Tooth disease (IACMT). Both patients were unrelated. Case 1 was a 19-year-old man, and case 2 was a 5-year-old boy. Both had delayed motor development and slowly-progressing distal muscle weakness with areflexia and foot deformities. The electrophysiology findings were compatible with axonal polyneuropathy in both patients...
June 29, 2018: Clinical Neuropathology
Julia Cassim, Frank Kolkman, Marcel Helmer
Designs for Flies is an award-winning design-led interdisciplinary project between KYOTO Design Lab (D-Lab), the Department of Applied Biology at the Kyoto Institute of Technology (KIT) and Charcot-Marie-Tooth (CMT), Japan. Within the framework of speculative design yet using an inclusive methodology, Frank Kolkman, a young Dutch designer, took Professor Masamitsu Yamaguchi's climbing assay experiment with Drosophila in his genetic mapping for CMT as the point of departure. Kolkman sought to address two questions raised during his initial research: "Could alternative strategies be used to generate interest from pharmaceutical companies for obscure, complicated or 'unmarketable' diseases in drug research?" and "Could transgenic Drosophila be used for the wildcard testing of drug compounds directly by patients at home in the search for a possible cure?" The chapter will describe its genesis, design process and the challenges and potential of interdisciplinary projects of this nature along with the impact of the resulting concept, which incorporated service, system, product and interaction design...
2018: Advances in Experimental Medicine and Biology
Masamitsu Yamaguchi, Hiroshi Takashima
Charcot-Marie-Tooth disease (CMT) was initially described in 1886. It is characterized by defects in the peripheral nervous system, including sensory and motor neurons. Although more than 80 CMT-causing genes have been identified to date, an effective therapy has not yet been developed for this disease. Since Drosophila does not have axons surrounded by myelin sheaths or Schwann cells, the establishment of a demyelinating CMT model is not appropriate. In this chapter, after overviewing CMT, examples of Drosophila CMT models with axonal neuropathy and other animal CMT models are described...
2018: Advances in Experimental Medicine and Biology
Saara Laulumaa, Tuomo Nieminen, Arne Raasakka, Oda C Krokengen, Anushik Safaryan, Erik I Hallin, Guillaume Brysbaert, Marc F Lensink, Salla Ruskamo, Ilpo Vattulainen, Petri Kursula
BACKGROUND: Myelin is a multilayered proteolipid sheath wrapped around selected axons in the nervous system. Its constituent proteins play major roles in forming of the highly regular membrane structure. P2 is a myelin-specific protein of the fatty acid binding protein (FABP) superfamily, which is able to stack lipid bilayers together, and it is a target for mutations in the human inherited neuropathy Charcot-Marie-Tooth disease. A conserved residue that has been proposed to participate in membrane and fatty acid binding and conformational changes in FABPs is Phe57...
June 25, 2018: BMC Structural Biology
Eunjoo Lancaster, Jian Li, Taleen Hanania, Ronald Liem, Mark A Scheideler, Steven S Scherer
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. Behavioral, electrophysiological, and pathological analyses were done on separate cohorts of NeflN98S/+ mutant mice and their wild type Nefl+/+ littermates between 8 and 48 weeks of age. The motor performance of NeflN98S/+ mice, as evidenced by altered balance and gait measures, was impaired at every age examined (from 6 to 25 weeks of age)...
June 22, 2018: Experimental Neurology
Santiago Sanz-Quinto, Raúl López-Grueso, Gabriel Brizuela, Andrew A Flatt, Manuel Moya-Ramón
Sanz-Quinto, S, López-Grueso, R, Brizuela, G, Flatt, AA, and Moya-Ramón, M. Influence of training models at 3,900-m altitude on the physiological response and performance of a professional wheelchair athlete: A case study. J Strength Cond Res XX(X): 000-000, 2018-This case study compared the effects of two training camps using flexible planning (FP) vs. inflexible planning (IP) at 3,860-m altitude on physiological and performance responses of an elite marathon wheelchair athlete with Charcot-Marie-Tooth disease (CMT)...
June 20, 2018: Journal of Strength and Conditioning Research
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