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Charcot Marie Tooth

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https://www.readbyqxmd.com/read/28934386/expression-of-the-neuropathy-associated-mtmr2-gene-rescues-mtm1-associated-myopathy
#1
Matthieu A Raess, Belinda S Cowling, Dimitri L Bertazzi, Christine Kretz, Bruno Rinaldi, Jean-Marie Xuereb, Pascal Kessler, Norma B Romero, Bernard Payrastre, Sylvie Friant, Jocelyn Laporte
Myotubularins (MTMs) are active or dead phosphoinositides phosphatases defining a large protein family conserved through evolution and implicated in different neuromuscular diseases. Loss-of-function mutations in MTM1 cause the severe congenital myopathy called myotubular myopathy (or X-linked centronuclear myopathy) while mutations in the MTM1-related protein MTMR2 cause a recessive Charcot-Marie-Tooth peripheral neuropathy. Here we aimed to determine the functional specificity and redundancy of MTM1 and MTMR2, and to assess their abilities to compensate for a potential therapeutic strategy...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28934368/a-single-danio-rerio-hars-gene-encodes-both-cytoplasmic-and-mitochondrial-histidyl-trna-synthetases
#2
Ashley L Waldron, Sara Helms Cahan, Christopher S Franklyn, Alicia M Ebert
Histidyl tRNA Synthetase (HARS) is a member of the aminoacyl tRNA synthetase (ARS) family of enzymes. This family of 20 enzymes is responsible for attaching specific amino acids to their cognate tRNA molecules, a critical step in protein synthesis. However, recent work highlighting a growing number of associations between ARS genes and diverse human diseases raises the possibility of new and unexpected functions in this ancient enzyme family. For example, mutations in HARS have been linked to two different neurological disorders, Usher Syndrome Type IIIB and Charcot Marie Tooth peripheral neuropathy...
2017: PloS One
https://www.readbyqxmd.com/read/28933354/mitochondrial-dynamics-in-mitochondrial-diseases
#3
REVIEW
Juan M Suárez-Rivero, Marina Villanueva-Paz, Patricia de la Cruz-Ojeda, Mario de la Mata, David Cotán, Manuel Oropesa-Ávila, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, José A Sánchez-Alcázar
Mitochondria are very versatile organelles in continuous fusion and fission processes in response to various cellular signals. Mitochondrial dynamics, including mitochondrial fission/fusion, movements and turnover, are essential for the mitochondrial network quality control. Alterations in mitochondrial dynamics can cause neuropathies such as Charcot-Marie-Tooth disease in which mitochondrial fusion and transport are impaired, or dominant optic atrophy which is caused by a reduced mitochondrial fusion. On the other hand, mitochondrial dysfunction in primary mitochondrial diseases promotes reactive oxygen species production that impairs its own function and dynamics, causing a continuous vicious cycle that aggravates the pathological phenotype...
December 23, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28914656/charcot-marie-tooth-disease-type-1a-influence-of-body-mass-index-on-nerve-conduction-studies-and-on-the-charcot-marie-tooth-examination-score
#4
Nivedita U Jerath, Michael E Shy
PURPOSE: Charcot-Marie-Tooth Disease type 1A (CMT1A) is caused by a duplication of the peripheral myelin protein gene 22 at chromosome 17p11.2-12. There is limited data regarding whether body mass index (BMI) affects electrophysiological or clinical data in those with CMT1A. METHODS: Electrophysiological data, the Charcot-Marie-Tooth examination score (CMTES) and BMI from 101 patients with known CMT1A were obtained and analyzed. RESULTS: When controlling for age, a higher BMI does not affect ulnar motor nerve conduction studies in those with CMT1A, but rather components of the CMTES (loss of pinprick and motor strength in the lower extremities)...
September 11, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28902413/frequent-genes-in-rare-diseases-panel-based-next-generation-sequencing-to-disclose-causal-mutations-in-hereditary-neuropathies
#5
Maike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, Corina Heller, Julia Mohr, Christine Bauer, Erik Riesch, Andrea Becker, Florian Battke, Konstanze Hörtnagel, Thorsten Hornemann, Saranya Suriyanarayanan, Markus Blankenburg, Jörg B Schulz, Kristl G Claeys, Burkhard Gess, Istvan Katona, Andreas Ferbert, Debora Vittore, Alexander Grimm, Stefan Wolking, Ludger Schöls, Holger Lerche, G Christoph Korenke, Dirk Fischer, Bertold Schrank, Urania Kotzaeridou, Gerhard Kurlemann, Bianca Dräger, Anja Schirmacher, Peter Young, Beate Schlotter-Weigel, Saskia Biskup
Hereditary neuropathies comprise a wide variety of chronic diseases associated to more than 80 genes identified to date. We herein examined 612 index patients with either a Charcot-Marie-Tooth phenotype, hereditary sensory neuropathy, familial amyloid neuropathy, or small fiber neuropathy using a customized multigene panel based on the next generation sequencing (NGS) technique. In 121 cases (19.8%), we identified at least one putative pathogenic mutation. Out of these, 54.4% showed an autosomal dominant, 33...
September 13, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28889642/treating-pediatric-neuromuscular-disorders-the-future-is-now
#6
REVIEW
James J Dowling, Hernan D Gonorazky, Ronald D Cohn, Craig Campbell
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review. This includes disorders of the anterior horn cell (e.g., spinal muscular atrophy), peripheral nerve (e.g., Charcot-Marie-Tooth disease), the neuromuscular junction (e.g., congenital myasthenic syndrome), and the muscle (myopathies and muscular dystrophies)...
September 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28860329/biomarkers-predict-outcome-in-charcot-marie-tooth-disease-1a
#7
Robert Fledrich, Manoj Mannil, Andreas Leha, Caroline Ehbrecht, Alessandra Solari, Ana L Pelayo-Negro, José Berciano, Beate Schlotter-Weigel, Tuuli J Schnizer, Thomas Prukop, Natalia Garcia-Angarita, Dirk Czesnik, Jana Haberlová, Radim Mazanec, Walter Paulus, Tim Beissbarth, Maggie C Walter, Cmt- Triaal, Jean-Yves Hogrel, Odile Dubourg, Angelo Schenone, Jonathan Baets, Peter De Jonghe, Michael E Shy, Rita Horvath, Davide Pareyson, Pavel Seeman, Peter Young, Michael W Sereda
BACKGROUND: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited neuropathy, a debilitating disease without known cure. Among patients with CMT1A, disease manifestation, progression and severity are strikingly variable, which poses major challenges for the development of new therapies. Hence, there is a strong need for sensitive outcome measures such as disease and progression biomarkers, which would add powerful tools to monitor therapeutic effects in CMT1A. METHODS: We established a pan-European and American consortium comprising nine clinical centres including 311 patients with CMT1A in total...
August 31, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28859335/a-new-mutation-in-fig4-causes-a-severe-form-of-cmt4j-involving-trpv4-in-the-pathogenic-cascade
#8
Benoit J Gentil, Erin O'Ferrall, Colin Chalk, Luis F Santana, Heather D Durham, Rami Massie
Mutations in FIG4, coding for a phosphoinositol(3,5) bisphosphate 5' phosphatase and involved in vesicular trafficking and fusion, have been shown causing a recessive form of Charcot-Marie-Tooth (CMT). We have identified a novel intronic mutation in the FIG4 in a wheel-chair bound patient presenting with a severe form of CMT4J and provide a longitudinal study. Investigations indicated a demyelinating sensorimotor polyneuropathy with diffuse active denervation and severe axonal loss. Genetic testing revealed that the patient is heterozygous for 2 FIG4 mutations, p...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28855494/charcot-marie-tooth-disease-type-2-caused-by-homozygous-mme-gene-mutation-superimposed-by-chronic-inflammatory-demyelinating-polyneuropathy
#9
Miwako Fujisawa, Yasuteru Sano, Masatoshi Omoto, Jyun-Ichi Ogasawara, Michiaki Koga, Hiroshi Takashima, Takashi Kanda
We report a 59-year-old Japanese male who developed gradually worsening weakness and numbness of distal four extremities since age 50. His parents were first cousins, and blood and cerebral spinal examinations were unremarkable. Homozygous mutation of MME gene was detected and thus he was diagnosed as autosomal-recessive Charcot-Marie-Tooth disease 2T (AR-CMT2T); however, electrophysiological examinations revealed scattered demyelinative changes including elongated terminal latency in several peripheral nerve trunks...
August 31, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28847448/a-novel-mutation-in-fgd4-causes-charcot-marie-tooth-disease-type-4h-with-cranial-nerve-involvement
#10
Daisuke Kondo, Koji Shinoda, Ken-Ichiro Yamashita, Ryo Yamasaki, Akihiro Hashiguchi, Hiroshi Takashima, Jun-Ichi Kira
Charcot-Marie-Tooth disease type 4H (CMT4H) is a rare variant of autosomal recessive hereditary neuropathy. It is caused by FGD4 mutations and characterized by early infantile onset, slowly progressive distal muscle weakness, scoliosis, and myelin outfoldings visible in nerve biopsy samples. Here, we report a 65-year-old male born to consanguineous parents, who carries a novel homozygous FGD4 c.724C>T nonsense mutation. He developed lower limb weakness in his teens, which progressed slowly and was accompanied by diplopia, bilateral hearing loss, and erectile dysfunction from his twenties...
July 26, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28844614/responsiveness-of-gait-analysis-parameters-in-a-cohort-of-71-cmt-subjects
#11
Tiziana Lencioni, Giuseppe Piscosquito, Marco Rabuffetti, Gabriele Bovi, Enrica Di Sipio, Manuela Diverio, Isabella Moroni, Luca Padua, Emanuela Pagliano, Angelo Schenone, Davide Pareyson, Maurizio Ferrarin
Detection of worsening in the slowly progressive Charcot-Marie-Tooth disease (CMT) is difficult. As previous clinical scales showed low responsiveness, novel outcome measures are under study, including innovative approaches such as quantitative muscle MRI and instrumented movement analysis. Since gait analysis proved able to reliably quantify CMT locomotor deficits, we aimed to explore whether it can be a sensitive-to-change outcome measure in CMT studies. Clinical and biomechanical evaluations were performed in 71 CMT subjects at baseline and after a mean (±sd) of 28...
July 14, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28841859/a-gja9-frameshift-variant-is-associated-with-polyneuropathy-in-leonberger-dogs
#12
Doreen Becker, Katie M Minor, Anna Letko, Kari J Ekenstedt, Vidhya Jagannathan, Tosso Leeb, G Diane Shelton, James R Mickelson, Cord Drögemüller
BACKGROUND: Many inherited polyneuropathies (PN) observed in dogs have clinical similarities to the genetically heterogeneous group of Charcot-Marie-Tooth (CMT) peripheral neuropathies in humans. The canine disorders collectively show a variable expression of progressive clinical signs and ages of onset, and different breed prevalences. Previously in the Leonberger breed, a variant highly associated with a juvenile-onset PN was identified in the canine orthologue of a CMT-associated gene...
August 25, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28837237/pseudodominant-inheritance-pattern-in-a-family-with-cmt2-caused-by-gdap1-mutations
#13
Barbara W van Paassen, Marieke Bronk, Camiel Verhamme, Fred van Ruissen, Frank Baas, Karin Y van Spaendonck-Zwarts, Marianne de Visser
We report a family in which an autosomal dominantly inherited Charcot-Marie-Tooth (CMT) disease type 2 was suspected. The affected family members (proband, sister, father and paternal aunt) showed intrafamilial clinical variability. The proband needed walking aids since adolescence because of generalized muscle weakness. The sister showed the same symptoms although to a lesser extent. The father and paternal aunt had foot deformity and atrophy of lower legs. A homozygous GDAP1 mutation was found in the proband and in the sister...
August 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28835897/clinical-and-pathological-variation-of-charcot-marie-tooth-1a-in-a-large-chinese-cohort
#14
Rui Wu, He Lv, Wei Zhang, Zhaoxia Wang, Yuehuan Zuo, Jing Liu, Yun Yuan
Charcot-Marie-Tooth 1A (CMT1A) caused by peripheral myelin protein 22 (PMP22) gene duplication is the most common form of hereditary polyneuropathy. Twenty-four genetically confirmed CMT1A patients with sural nerve biopsies were enrolled in this study. The clinical picture included a great variability of phenotype with mean onset age of 22.2 ± 14.5 years (1-55 years). Pathologically, we observed a severe reduction in myelinated fiber density showing three types of changes: pure onion bulb formation in 3 cases (12...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28835631/neuropilin-1-sequestration-by-neuropathogenic-mutant-glycyl-trna-synthetase-is-permissive-to-vascular-homeostasis
#15
James N Sleigh, Adriana Gómez-Martín, Na Wei, Ge Bai, Xiang-Lei Yang, Giampietro Schiavo
The mechanism by which dominantly inherited mutations in the housekeeping gene GARS, which encodes glycyl-tRNA synthetase (GlyRS), mediate selective peripheral nerve toxicity resulting in Charcot-Marie-Tooth disease type 2D (CMT2D) is still largely unresolved. The transmembrane receptor protein neuropilin 1 (Nrp1) was recently identified as an aberrant extracellular binding partner of mutant GlyRS. Formation of the Nrp1/mutant GlyRS complex antagonises Nrp1 interaction with one of its main natural ligands, vascular endothelial growth factor-A (VEGF-A), contributing to neurodegeneration...
August 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28828227/a-novel-p-t139m-mutation-in-hspb1-highlighting-the-phenotypic-spectrum-in-a-family
#16
Jakkrit Amornvit, Mehmet E Yalvac, Lei Chen, Zarife Sahenk
INTRODUCTION: Mutations in the HSPB1 gene encoding the small heat shock protein B1 are associated with an autosomal dominant, axonal form of Charcot-Marie-Tooth disease 2F (CMT2F) and distal hereditary motor neuropathy. Recently, distal myopathy had been described in a patient carrying HSPB1 mutation adding to the complexity of phenotypes resulting from HSPB1 mutations. METHODS: Five patients in a family with concerns of hereditary neuropathy were included. Detailed clinical examinations, including assessments of motor and sensory function, and electrophysiological data were obtained...
August 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28825578/-diagnosis-of-charcot-marie-tooth-disease-in-a-patient-with-type-1-diabetes
#17
Patricia Vega, Enrique T Farini, Matías Carpio, Natalia Carnelutto, Verónica Chiaradia, Ana A Pisarevsky
No abstract text is available yet for this article.
2017: Medicina
https://www.readbyqxmd.com/read/28814348/traduction-fran%C3%A3-aise-de-l-%C3%A3-chelle-charcot-marie-tooth-disease-pediatric-scale
#18
Cynthia Gagnon, Rami Massie, Marjolaine Tremblay, Sylvie Darcy, Mélissa Martel, Joshua Burns
Résumé Cet article présente le processus de traduction en français du Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS), le seul outil de mesure validé évaluant la sévérité de la maladie chez les enfants atteints de CMT. Le processus de traduction utilisé s'inspire des lignes directrices de la Food and Drug Administration (FDA). La version préliminaire francophone du CMTPedS a été testée auprès de 14 enfants atteints. Les résultats de l'application démontrent que la passation a été bien tolérée par les enfants et s'est avérée conviviale pour les cliniciens...
August 17, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28812050/caveats-in-the-established-understanding-of-cmt1a
#19
Jun Li
Charcot-Marie-Tooth disease type-1A (CMT1A) is one of the most common types of inherited peripheral nerve diseases. It is caused by the trisomy of chromosome 17p12 (c17p12), a large DNA segment of 1.4 Mb containing PMP22 plus eight other genes. The size of c17p12 is formidable for any cloning technique to manipulate, and thus precludes production of models in vitro and in vivo that can precisely recapitulate the genetic alterations in humans with CMT1A. This limitation and other factors have led to several assumptions, which have yet been carefully scrutinized, serving as key principles in our understanding of the disease...
August 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28810241/molecular-epidemiology-of-charcot-marie-tooth-disease-in-northern-ostrobothnia-finland-a-population-based-study
#20
Maria Marttila, Laura Kytövuori, Seppo Helisalmi, Mika Kallio, Marjo Laitinen, Mikko Hiltunen, Mikko Kärppä, Kari Majamaa
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder with a population prevalence of 9.7-82.3/100,000. In this study, we have estimated the prevalence of CMT and its subtypes in Finland and examined the frequency of molecular etiologies. METHODS: A population-based survey included adult patients with peripheral neuropathy from the province of Northern Ostrobothnia, Finland. Secondary causes of peripheral polyneuropathy were excluded and patients with clinical and neurophysiological features pertinent with CMT were included...
August 16, 2017: Neuroepidemiology
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