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Charcot marie tooth disease

Antonietta Franco, Richard N Kitsis, Julie A Fleischer, Evripidis Gavathiotis, Opher S Kornfeld, Guohua Gong, Nikolaos Biris, Ann Benz, Nir Qvit, Sara K Donnelly, Yun Chen, Steven Mennerick, Louis Hodgson, Daria Mochly-Rosen, Gerald W Dorn
Mitochondria are dynamic organelles, remodeling and exchanging contents during cyclic fusion and fission. Genetic mutations of mitofusin (Mfn) 2 interrupt mitochondrial fusion and cause the untreatable neurodegenerative condition, Charcot Marie Tooth disease type 2A (CMT2A). It has not been possible to directly modulate mitochondrial fusion, in part because the structural basis of mitofusin function is incompletely understood. Here we show that mitofusins adopt either a fusion-constrained or fusion-permissive molecular conformation directed by specific intramolecular binding interactions, and demonstrate that mitofusin-dependent mitochondrial fusion can be regulated by targeting these conformational transitions...
October 24, 2016: Nature
Xiaohui Duan, Weihong Gu, Ying Hao, Renbin Wang, Hong Wen, Shaojie Sun, Jinsong Jiao, Dongsheng Fan
Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves. Mutations in MPZ have been associated with different Charcot-Marie-Tooth disease (CMT) phenotypes (CMT1B, CMT2I/J, CMTDI), Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. Here, we report phenotypic variability in a four-generation Chinese family with the MPZ mutation Asp121Asn. Genetic testing was performed on nine family members and 200 controls. Clinical, electrophysiological and skeletal muscle MRI assessments were available for review in six family members...
2016: Frontiers in Aging Neuroscience
Bryan P Schneider, Dongbing Lai, Fei Shen, Guanglong Jiang, Milan Radovich, Lang Li, Laura Gardner, Kathy D Miller, Anne O'Neill, Joseph A Sparano, Gloria Xue, Tatiana Foroud, George W Sledge
PURPOSE: Taxane-induced peripheral neuropathy (TIPN) is one of the most important survivorship issues for cancer patients. African Americans (AA) have previously been shown to have an increased risk for this toxicity. Germline predictive biomarkers were evaluated to help identify a priori which patients might be at extraordinarily high risk for this toxicity. EXPERIMENTAL DESIGN: Whole exome sequencing was performed using germline DNA from 213 AA patients who received a standard dose and schedule of paclitaxel in the adjuvant, randomized phase III breast cancer trial, E5103...
October 9, 2016: Oncotarget
Yuksel Batir, Thaddeus A Bargiello, Terry L Dowd
In this article we present (1)H and (13)C chemical shift assignments, secondary structural propensity data and normalized temperature coefficient data for N-terminal peptides of Connexin 26 (Cx26), Cx26G12R and Cx32G12R mutants seen in syndromic deafness and Charcot Marie Tooth Disease respectively, published in "Structural Studies of N-Terminal Mutants of Connexin 26 and Connexin 32 Using 1H NMR Spectroscopy" (Y. Batir, T.A. Bargiello, T.L. Dowd, 2016) [1]. The mutation G12R affects the structure of both Cx26 and Cx32 peptides differently...
December 2016: Data in Brief
Makito Hirano, Nobuyuki Oka, Akihiro Hashiguchi, Shuichi Ueno, Hikaru Sakamoto, Hiroshi Takashima, Yujiro Higuchi, Susumu Kusunoki, Yusaku Nakamura
Charcot-Marie-Tooth (CMT) disease is a complex of peripheral nervous system disorders. CMT type 2U (CMT2U) is an autosomal dominant disease caused by mutations in the MARS gene encoding methionyl-tRNA synthetase; this disease has thus been newly called AD-CMTax-MARS. A few families with mutations in the MARS gene have been reported, without detailed histopathological findings. We describe a 70-year-old woman who had bilateral dysesthesia of the soles since the age of 66 years. Sural nerve biopsy showed a decrease in the density of large myelinated nerve fibers...
October 7, 2016: Journal of the Peripheral Nervous System: JPNS
Philippe Codron, Arnaud Chevrollier, Mariame Selma Kane, Andoni Echaniz-Laguna, Philippe Latour, Pascal Reynier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Guy Lenaers, Julien Cassereau
Charcot-Marie-Tooth type 2A disease (CMT2A) is an inherited peripheral neuropathy mainly caused by mutations in the MFN2 gene coding for the mitochondrial fusion protein Mitofusin 2. Although the disease is mainly inherited in a dominant fashion, few cases of early-onset autosomal recessive CMT2A (AR-CMT2A) have been reported in recent years. In this study, we characterized the structure of mitochondrial network in cultured primary fibroblasts obtained from AR-CMT2A family members. The patient-derived cells showed an increase of the mitochondrial fusion with large connected networks and an increase of the mitochondrial volume...
October 5, 2016: Journal of the Peripheral Nervous System: JPNS
Erieta Nikolikj Dimitrova, Ivana Božinovikj, Simona Ristovska, Aleksandra Hadzieva Pejcikj, Aleksandra Kolevska, Mirjeta Hasani
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a hereditary disease with signs of chronic non-progressive motor-sensory neuropathy which is characterised by symmetric muscle atrophy and weakness of the distal portion of lower extremities. AIM: The aim is to present two cases with peroneal muscular atrophy, applied rehabilitation procedures and rehabilitation outcome. MATERIAL AND METHODS: Patient DR, aged 51, and patient KH, aged 78. Both patients had weakness and pronounced atrophy of the distal portion of lower extremities, numbness down the legs, contractures in the ankles and walking difficulties...
September 15, 2016: Open Access Macedonian Journal of Medical Sciences
Daniel Roberts-Clarke, Che Fornusek, Nidhi Saigal, Mark Halaki, Joshua Burns, Garth Nicholson, Maria Fiatarone Singh, Daniel Hackett
Charcot-Marie-Tooth (CMT) is a rare inherited peripheral neuropathy in which quality of life (QoL) is reduced compared to the general population. This paper investigates the relationship between QoL and physical performance in people with CMT with the aim of identifying avenues for future research into rehabilitation strategies. Cross-sectional data was obtained from 10 participants (5 men, 5 women, age 46 ± 13 y, height 1.7 ± 0.1 m, body mass 77 ± 17 kg) with CMT (CMT1A n = 5; CMT-X n = 3; unknown genetic origin n = 3)...
October 4, 2016: Journal of the Peripheral Nervous System: JPNS
Rubens Paulo A Salomão, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Fernanda Maggi, José Luiz Pedroso, Orlando G P Barsottini
Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot-Marie-Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich's ataxia (FRDA). We demonstrate that late-onset Friedreich's ataxia (LOFA) may be a CMT mimicker. This case reinforces that other genetic conditions may clinically resemble CMT. The clinical similarities between CMT and FRDA include a symmetrical neuropathy (axonal in FRDA), steppage gait, and eventually scoliosis...
September 29, 2016: Cerebellum
Kristien Peeters, Paulius Palaima, Ana L Pelayo-Negro, Antonio García, Elena Gallardo, Rosario García-Barredo, Ligia Mateiu, Jonathan Baets, Björn Menten, Els De Vriendt, Peter De Jonghe, Vincent Timmerman, Jon Infante, José Berciano, Albena Jordanova
OBJECTIVE: To identify the unknown genetic cause in a large pedigree previously classified with a distinct form of axonal Charcot-Marie-Tooth disease type 2G (CMT2G) and to explore its transcriptional consequences. METHODS: Clinical reevaluation of the pedigree was performed, followed by linkage analysis with the redefined disease statuses, and whole genome and exome sequencing. The impact of the mutation was investigated by immunoblotting and transcriptome sequencing...
September 30, 2016: Annals of Neurology
Gita M Ramdharry, Alexander J Pollard, Robert Grant, Elizabeth L Dewar, Matilde Laurá, Sarah A Moore, Kate Hallsworth, Thomas Ploetz, Michael I Trenell, Mary M Reilly
PURPOSE: Charcot Marie Tooth disease (CMT) describes a group of hereditary neuropathies that present with distal weakness, wasting and sensory loss. Small studies indicate that people with CMT have reduced daily activity levels. This raises concerns as physical inactivity increases the risk of a range of co- morbidities, an important consideration in the long-term management of this disease. This study aimed to compare physical activity, patterns of sedentary behavior and overall energy expenditure of people with CMT and healthy matched controls...
August 16, 2016: Disability and Rehabilitation
Cherriere Claire, Melissa Martel, Sylvie Fortin, Marie-Joanie Raymond, Louis Nicolas Veilleux, Sylvie D'Arcy, Martin Lemay
OBJECTIVE: Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy and belongs to neuromuscular diseases. CMT affects motor function of children, but its clinical expressions are heterogeneous and it could also influence cognitive and psychosocial dimensions of patients. Physical activity is recommended for adults with CMT, but any study has been conducted with children. It is important to propose to children with CMT an adapted physical activity that enables a global approach of the patient...
September 2016: Annals of Physical and Rehabilitation Medicine
Thierry Weissland, Pierre-Marie Leprêtre, Steven Bruere, Gwendal Troadec, Michel Terrefond
OBJECTIVE: Evaluations of physical fitness and efficiency to wheelchair propulsion are common in rehabilitation center. The multistage field test (MFT) was developed for wheelchair users and predicts the peak value of oxygen consumption [Formula: see text] , independently of their impairment [1]. In an earlier study, we did not find significant difference between VO2peak estimated by the Vanderthommen's formula and measured VO2peak [2] of trained wheelchair basketball players. MATERIAL/PATIENTS AND METHODS: Comparatively to wheelchair basketball, the athlete's cardio-respiratory and muscular limitations are greater higher in wheelchair rugby...
September 2016: Annals of Physical and Rehabilitation Medicine
Matthieu A Raess, Sylvie Friant, Belinda S Cowling, Jocelyn Laporte
Myotubularins define a large family of proteins conserved through evolution. Several members are mutated in different neuromuscular diseases including centronuclear myopathies and Charcot-Marie-Tooth (CMT) neuropathies, or are linked to a predisposition to obesity and cancer. While some members have phosphatase activity against the 3-phosphate of phosphoinositides, regulating the phosphorylation status of PtdIns3P and PtdIns(3,5)P2 implicated in membrane trafficking and autophagy, and producing PtdIns5P, others lack key residues in the catalytic site and are classified as dead-phosphatases...
September 15, 2016: Advances in Biological Regulation
Aleksi Tarkkonen, Eero Rissanen, Terhi Tuokkola, Laura Airas
We present a case where a 30-year-old man with a history of combined MS and Charcot-Marie-Tooth (CMT I) disease was additionally diagnosed and treated for grade II glioma (astrocytoma). Tumefactive MS and gliomas are sometimes difficult to distinguish from one another based on conventional magnetic resonance imaging (MRI). In our case, positron emission tomography (PET) scans with(11)C-methionine ((11)C-MET) and (11)C-PK11195 radioligands were performed to aid in differential diagnostics. The diagnosis was confirmed finally by brain biopsy...
September 2016: Multiple Sclerosis and related Disorders
S Gagliardi, I Ricca, A Ferrarini, M Valente, G S Grieco, G Piccolo, E Alfonsi, M Delledonne, C Cereda
IMPORTANCE: In the eighties a clinical and familiar condition in which two different diseases Charcot-Marie-Tooth Disease type 2 (CMT2), and Palmoplantar Keratoderma (PPK) seemed to define an interesting complex phenotype (OMIM 148360) has been described. The regular association of this phenotype and the autosomal dominant trait has suggested that this clinical condition was expression of the same mutant gene. Exome analysis has been performed in an Italian family which members were affected by CMT2, PPK and CMT/PPK...
September 17, 2016: British Journal of Dermatology
Małgorzata J M Nowaczyk, Lijia Huang, Mark Tarnopolsky, Jeremy Schwartzentruber, Jacek Majewski, Dennis E Bulman, Taila Hartley, Kym M Boycott
Aminoacyl-tRNA synthetases (ARSs) are a group of ubiquitously expressed enzymes that are best known for their function in the first step of protein translation but have been increasingly associated with secondary functions including transcription and translation control and extracellular signaling. Mutations in numerous ARSs have been linked to a growing number of both autosomal dominant and autosomal recessive human diseases. The tyrosyl-tRNA synthetase (YARS) links the amino acid tyrosine to its cognate tRNA...
September 15, 2016: American Journal of Medical Genetics. Part A
Yoshitaka Kikukawa, Hiroyuki Hata, Mitsuharu Ueda, Taro Yamashita, Singo Nasu, Kazuhiko Ide, Shikiko Ueno, Yukio Ando, Hiroaki Mitsuya, Yutaka Okuno
A 70-year-old woman with Charcot-Marie-Tooth disease (CMT) suffered from nephrotic syndrome and a renal biopsy revealed non-AA amyloid depositions that contained immunoglobulin light chain λ. Her serum λ free LC was elevated to 80.8 mg/L and she was diagnosed with primary amyloid light-chain (AL) amyloidosis. She was subsequently treated with lenalidomide, cyclophosphamide, and dexamethasone (RCD). After 14 cycles of RCD, she achieved complete remission. Her serum albumin levels gradually normalized to 3...
2016: Internal Medicine
Tristan P C van Doormaal, Fred van Ruissen, Kai J Miller, Jessica E Hoogendijk
Two siblings with Charcot-Marie-Tooth (CMT) 1B due to a c.517G>C (p.Gly173Arg) mutation in the MPZ gene both developed an acute cauda syndrome with unbearable back pain radiating to both legs, progressive muscle weakness of the legs, and saddle hypesthesia with fecal and urinary incontinence. MRI showed in both patients a lumbar spinal canal totally filled with hypertrophic caudal nerve roots. We performed acute decompression. Postoperatively, in both patients, the back pain resolved immediately, there was a significant improvement of both the paresis of the legs and the hypesthesia, and there was a full return of continence...
August 22, 2016: Neuromuscular Disorders: NMD
Martiniano Bello, Mixtli J Torres, Alfonso Méndez-Tenorio, José Correa-Basurto
Peripheral myelin protein 22 (PMP22) resides in the plasma membrane and is required for myelin formation in the peripheral nervous system. Excess PMP22 mutants accumulate in the endoplasmic reticulum (ER) resulting in the inherited neuropathies of Charcot-Marie-Tooth disease. However, there was no evidence of the structure of PMP22 or how mutations affect its folding. Therefore, in this study, we combined bioinformatics and homology modeling approaches to obtain three-dimensional native and mutated PMP22 models and its anchoring to a POPC membrane, submitted to ...
October 5, 2016: Journal of Biomolecular Structure & Dynamics
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