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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
Rebecca Shaw, Cristina Dias, Jeffrey Ludemann, Rosemarie Rupps, Vance Tsai, Anna Lehman
We report on a family with three siblings, male and female, affected by congenital bilateral limitation of vocal cord abduction, with the additional finding of clubfeet in two. The paternal family history suggests an autosomal dominant inheritance. The siblings and father also have mild craniofacial features, which may be an expression of variability or may be unrelated. The association between congenital vocal cord paralysis and clubfeet has been reported with additional major features or in the context of Charcot-Marie-Tooth disease...
June 14, 2018: Clinical Dysmorphology
(no author information available yet)
No abstract text is available yet for this article.
June 2018: Journal of the Peripheral Nervous System: JPNS
Michio Inoue, Aritoshi Iida, Shinichiro Hayashi, Madoka Mori-Yoshimura, Atsushi Nagaoka, Shunsuke Yoshimura, Hirokazu Shiraishi, Akira Tsujino, Yuji Takahashi, Ikuya Nonaka, Yukiko K Hayashi, Satoru Noguchi, Ichizo Nishino
VCP mutations were first associated with inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) but was later associated with amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease. Now, a new name, "multisystem proteinopathy (MSP)", is proposed for this condition. VCP encodes valosin-containing protein, which is involved in protein degradation in the ubiquitin proteasome system. We report here two MSP patients with two novel heterozygous missense variants in VCP : c...
2018: Human Genome Variation
Najla El Fissi, Manuel Rojo, Aїcha Aouane, Esra Karatas, Gabriela Poliacikova, Claudine David, Julien Royet, Thomas Rival
Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by dominant alleles of the mitochondrial pro-fusion factor Mitofusin 2 (MFN2). To address the consequences of these mutations on mitofusin activity and neuronal function, we generate Drosophila models expressing in neurons the two most frequent substitutions (R94Q and R364W, the latter never studied before) and two others localizing to similar domains (T105M and L76P). All alleles trigger locomotor deficits associated with mitochondrial depletion at neuromuscular junctions, decreased oxidative metabolism and increased mtDNA mutations, but they differently alter mitochondrial morphology and organization...
June 13, 2018: EMBO Reports
Laura Mori, Valeria Prada, Alessio Signori, Davide Pareyson, Giuseppe Piscosquito, Luca Padua, Costanza Pazzaglia, Gian M Fabrizi, Alessandro Picelli, Angelo Schenone
BACKGROUND: The outcome measures (OMs) in clinical trials for Charcot Marie Tooth disease (CMT) still represent an issue. A recent study highlighted that three additional clinical OMs, the 10 meters walk test (10MWT), 9 hole-peg test, and foot dorsal flexion dynamometry, further improve discrimination between severely and mildly affected patients. Another study recently assess the validity and reliability of the 6 Minutes Walking test (6MWT). AIM: To identify the most useful scales in the clinical evaluation of CMT1A patients...
June 11, 2018: European Journal of Physical and Rehabilitation Medicine
Jin He, Lingling Guo, Guorong Xu, Liuqing Xu, Shan Lin, Wanjin Chen, Ning Wang
Demyelinating Charcot-Marie-Tooth disease is the most common subtype of CMT. It is caused mainly by 17p11.2 heterozygous duplication, but also by mutations in more than 20 genes which affect development and function of Schwann cells. To investigate the profile of genes mutated and clinical features in demyelinating CMT of Chinese descent, we collected a cohort of 44 demyelinating CMT patients and screened them using multiplex ligation-dependent probe amplification (MLPA) and targeted next-generation sequencing technology...
June 12, 2018: Journal of the Peripheral Nervous System: JPNS
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