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Charcot + marie

Małgorzata Beręsewicz, Łukasz Charzewski, Krystiana A Krzyśko, Andrzej Kochański, Barbara Zabłocka
Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant neuropathy caused by mutations in the mitofusin 2 gene (MFN2). More than 100 MFN2 gene mutations have been reported so far, with majority located within the GTPase domain encoding region. These domain-specific mutations present wide range of symptoms with differences associated with distinct amino acid substitutions in the same position. Due to the lack of conclusive phenotype-genotype correlation the predictive value of genetic results remains still limited...
November 15, 2018: Scientific Reports
Mo Zhao, Nika Maani, James J Dowling
Dynamin 2 (DNM2) belongs to a family of large GTPases that are well known for mediating membrane fission by oligomerizing at the neck of membrane invaginations. Autosomal dominant mutations in the ubiquitously expressed DNM2 cause 2 discrete neuromuscular diseases: autosomal dominant centronuclear myopathy (ADCNM) and dominant intermediate Charcot-Marie-Tooth neuropathy (CMT). CNM and CMT mutations may affect DNM2 in distinct manners: CNM mutations may cause protein hyperactivity with elevated GTPase and fission activities, while CMT mutations could impair DNM2 lipid binding and activity...
November 13, 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
Richa Kulshrestha, Natalie Forrester, Thalia Antoniadi, Tracey Willis, Sethil Kumar Sethuraman, Martin Samuels
Immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) mutations are associated with partial continuum between two extremes of rapidly lethal disorder of spinal muscular atrophy with respiratory distress type 1 (SMARD1), with infantile axonal neuropathy, diaphragmatic weakness and commonly death before 1 year of age, and Charcot-Marie-Tooth disease (CMT) type 2S with slowly progressive weakness and sensory loss but no significant respiratory compromise. We present an atypical case of CMT2S. A 9 month old boy presented with bilateral feet deformities and axonal neuropathy...
October 5, 2018: Neuromuscular Disorders: NMD
Temilola Y Abdul, Andrew E Schneider, Frank Cetta, David J Driscoll
Charcot-Marie-Tooth disease comprises a vast array of defects in myelin integrity that causes progressive peripheral sensorimotor neuropathy. It is the most prevalent inherited peripheral neuropathy, and it can affect the management of coexisting medical conditions. We report the case of a 25-year-old woman who had undergone successful Fontan surgery during childhood, but her Fontan circulation failed as a result of diaphragmatic paresis caused by Charcot-Marie-Tooth disease type 1A. This diagnosis precluded cardiac transplantation...
August 2018: Texas Heart Institute Journal
Juliette Bacquet, Tanya Stojkovic, Amandine Boyer, Nathalie Martini, Frédérique Audic, Brigitte Chabrol, Emmanuelle Salort-Campana, Emilien Delmont, Jean-Pierre Desvignes, Annie Verschueren, Shahram Attarian, Annabelle Chaussenot, Valérie Delague, Nicolas Levy, Nathalie Bonello-Palot
PURPOSE: Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to screen all these genes with high efficiency in order to unravel the genetic basis of the disease. Here, we compare the diagnostic yield of targeted NGS with our previous gene by gene Sanger sequencing strategy. We also describe several novel likely pathogenic variants...
October 28, 2018: BMJ Open
Vivien Reynaud, Claire Morel, Pascal Givron, Pierre Clavelou, Catherine Cornut-Chauvinc, Bruno Pereira, Frederic Taithe, Emmanuel Coudeyre
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary neuropathy. Affected individuals have a distal motor deficit, initially affecting the lower limbs and impairing walking performance. Isokinetic dynamometry can be used to objectively assess muscle strength of patients with neuromuscular disorders. No studies have evaluated the effect of muscle strength deficits of knee extensors and flexors on walking parameters for patients with CMT1A. The purpose of this study was to determine correlations between the isokinetic muscular strength (IMS) of knee flexors (KFs) and knee extensors (KEs) and walk parameters for patients with CMT1A...
October 26, 2018: American Journal of Physical Medicine & Rehabilitation
C Hoebeke, N Bonello-Palot, F Audic, C Boulay, D Tufod, S Attarian, B Chabrol
INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is an inherited peripheral neuropathy with an impact on patients' quality of life and wide genetic heterogeneity. Next-generation sequencing (NGS) has extended the molecular diagnosis. This study aims to describe a cohort of patients with CMT onset in childhood to explore genotype-phenotype correlations. MATERIAL AND METHODS: This is a retrospective and single-center study. Between 1992 and 2016, patients with CMT diagnosed in childhood and a molecular diagnosis were included...
October 16, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
A V Deryugina, E A Antipenko
AIM: To study an impact of cytoflavin on the functional state of erythrocytes in patients with Charcot - Marie - Toota disease (CMTD). MATERIAL AND METHODS: Thirty patients with CMTD were examined. The main group (n=17) received cytoflavin along with basic therapy (intravenously dropwise 10 ml per 200 ml of 5% glucose solution for 10 days). The comparison group (n=13) received only basic therapy. Functional parameters of erythrocytes, including electrophoretic mobility of erythrocytes (EFME), concentration of malonic dialdehyde (MDA), content of ATP and 2...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Giancarlo Coghe, Massimiliano Pau, Elena Mamusa, Cinzia Pisano, Federica Corona, Giuseppina Pilloni, Micaela Porta, Giovanni Marrosu, Alessandro Vannelli, Jessica Frau, Lorena Lorefice, Giuseppe Fenu, Maria Giovanna Marrosu, Eleonora Cocco
BACKGROUND: Gait analysis is a reliable tool to characterise ambulation in Charcot-Marie-Tooth, the obtained are complex data makes its use scarce in clinical practice. The use of synthetic measures may enable the clinician to easily interpret gait kinematics in Charcot-Marie-Tooth. AIMS: To test the usefulness of Gait Profile Score as a method to quantify and monitor kinematic gait alterations in Charcot-Marie-Tooth. METHODS: A group of patients with Charcot-Marie-Tooth and a control group underwent Gait Analysis...
October 18, 2018: Disability and Rehabilitation
Nell Freeman-Romilly, Leena Mewasingh, Annette Coomer, Caroline Foster
An 18-year-old black African man with well-controlled perinatally acquired HIV-1 was diagnosed in late adolescence with the unrelated diagnoses of Charcot-Marie-Tooth type 1A (CMT1A), epilepsy due to polymicrogyria and subsequently developed severe depression. The CMT1A diagnosis occurred after transfer of care from a local paediatric HIV service to a tertiary paediatric referral centre and was precipitated by recognition of a history and neurological signs not typically associated with perinatal HIV. The case resulted in the establishment of a quarterly combined paediatric HIV and paediatric neurology multidisciplinary team clinic to assess children and adolescents living with HIV with neurological symptoms...
October 16, 2018: BMJ Case Reports
Sumaira Kanwal, Shazia Perveen, Hafiz Muhammad Arshad
OBJECTIVE: To find the causative mutation by linkage analysisof Charcot-Marie-Tooth disease while focussing on AMACR gene. METHODS: The case-control study was conducted from November 2016 to March 2017 in Kongju National University Korea.A family of 15 members with composite symptoms of peripheral neuropathy were enrolled. In addition, 50 healthy controls, which had no clinical features and family history of neuromuscular disorders, were also recruited. The family was selected for sequencing analysis by using capillary sequencing...
July 2018: JPMA. the Journal of the Pakistan Medical Association
Prada Valeria, S Schizzi, I Poggi, L Mori, C Gemelli, M Hamedani, S Accogli, G Maggi, M Grandis, G L Mancardi, A Schenone
Objective: Charcot-Marie-Tooth neuropathy affects mainly and early the lower limbs, but hands deformities are a relevant problem, which involves the quality of life of the patients. Unfortunately, there are few studies about the evaluation of the upper limbs and very rare works about the rehabilitation. A treatment study at the moment is missing and it is important to search rehabilitation exercises to improve the dexterity and the quality of life of the patients. Methods: We recruited 9 patients with clinical and genetic diagnosis of CMT and we proposed a rehabilitation protocol which includes muscle recruitment, stretching and proprioceptive exercises for the hand with the duration of 4 weeks (two sessions for week)...
July 30, 2018: Journal of Neurology & Neurophysiology
Cyntia Rogean de Jesus Alves de Baptista, Adriana Nascimento-Elias, Tenysson Will Lemos, Beatriz Garcia, Paula Domingues Calori, Ana Claudia Mattiello-Sverzut
Charcot Marie Tooth disease (CMT) has negative functional impact on postural control of children; however, it has not been widely studied. Stabilometry can provide insights about postural control and guide preventive interventions in immature perceptual and musculoskeletal systems as those seen in children with CMT. This cross-sectional study aimed to identify and interpret stabilometric variables that reflect the postural control of children with CMT. 53 subjects (age 6-17) were assigned to one of the two groups: CMT (15 males and 14 females with CMT) or Control (13 males and 11 females healthy)...
2018: PloS One
Artur Jan Kiepura, Andrzej Kochański
Charcot‑Marie‑Tooth type 1A (CMT1A) is a dysmyelinating disease of the peripheral nervous system that results in a slow progressive weakening and wasting of the distal muscles of the upper and lower limbs. Despite extensive research and clinical trials there is still no treatment for CMT1A that results in complete neurological improvement. Recent studies investigating various pharmacological modulators of adenylyl cyclase activity, including ascorbic acid and ligands of G protein‑coupled receptors (GPCRs), provide hope for future treatments of this type of hereditary motor and sensory neuropathy...
2018: Acta Neurobiologiae Experimentalis
Anna Ambrosini, Daniela Calabrese, Francesco Maria Avato, Felice Catania, Guido Cavaletti, Maria Carmela Pera, Antonio Toscano, Giuseppe Vita, Lucia Monaco, Davide Pareyson
BACKGROUND: The worldwide landscape of patient registries in the neuromuscular disease (NMD) field has significantly changed in the last 10 years, with the international TREAT-NMD network acting as strong driver. At the same time, the European Medicines Agency and the large federations of rare disease patient organizations (POs), such as EURORDIS, contributed to a great cultural change, by promoting a paradigm shift from product-registries to patient-centred registries. In Italy, several NMD POs and Fondazione Telethon undertook the development of a TREAT-NMD linked patient registry in 2009, with the referring clinical network providing input and support to this initiative through the years...
October 4, 2018: Orphanet Journal of Rare Diseases
U Anandh, R Nikalji, A Parick
A 40-year-old female presented to the neurologist with gradually progressive weakness of distal and proximal muscles of both lower limbs and cramps for 2 years. She gave a history of similar illness in her paternal grandmother and her father. Her examination revealed bilateral foot drop and mild proximal muscle weakness. She was diagnosed to have peripheral neuropathy and subsequently treated conservatively. Over the next year, she noticed progressive swelling of both lower limb and frothy urine. A nephrology consultation was obtained, and a renal biopsy was done, which showed membranous nephropathy...
September 2018: Indian Journal of Nephrology
Sarah R Alaei, Charles K Abrams, J Chloë Bulinski, Elliot L Hertzberg, Mona M Freidin
BACKGROUND: The gap junction protein, Connexin32 (Cx32), is expressed in various tissues including liver, exocrine pancreas, gastrointestinal epithelium, and the glia of the central and peripheral nervous system. Gap junction-mediated cell-cell communication and channel-independent processes of Cx32 contribute to the regulation of physiological and cellular activities such as glial differentiation, survival, and proliferation; maintenance of the hepatic epithelium; and axonal myelination...
September 29, 2018: BMC Cell Biology
Kayla Md Cornett, Elizabeth Wojciechowski, Amy D Sman, Terri Walker, Manoj P Menezes, Paula Bray, Mark Halaki, Joshua Burns
INTRODUCTION: Biomarkers of disease severity in Charcot-Marie-Tooth disease (CMT) are required to evaluate early responses to treatment. The study aimed to evaluate the relationship between muscle volume and intramuscular fat accumulation by magnetic resonance imaging (MRI) and weakness, disability and impaired gait in affected children and adolescents. METHODS: 55 participants underwent MRI of the anterior compartment of the lower leg. Muscle and fat volumes were calculated...
September 28, 2018: Muscle & Nerve
Yuriko Tatsumi, Naoto Matsumoto, Noriko Iibe, Natsumi Watanabe, Tomohiro Torii, Kazunori Sango, Keiichi Homma, Yuki Miyamoto, Hiroyuki Sakagami, Junji Yamauchi
Charcot-Marie-Tooth (CMT) disease is composed of a heterogeneous group of hereditary peripheral neuropathies. The peripheral nervous system primarily comprises two types of cells: neuronal cells and myelinating glial Schwann cells. CMT2 N is an autosomal dominant disease and its responsible gene encodes alanyl-tRNA synthetase (AARS), which is a family of cytoplasmic aminoacyl-tRNA synthetases. CMT2 N is associated with the mutation, including a missense mutation, which is known to decrease the enzymatic activity of AARS, but whether and how its mutation affects AARS localization and neuronal process formation remains to be understood...
September 24, 2018: Neuroscience Research
Vincenzo Salpietro, Andreea Manole, Stephanie Efthymiou, Henry Houlden
The rapid development in the last 10-15 years of microarray technologies, such as oligonucleotide array Comparative Genomic Hybridization (CGH) and Single Nucleotide Polymorphisms (SNP) genotyping array, has improved the identification of fine chromosomal structural variants, ranging in length from kilobases (kb) to megabases (Mb), as an important cause of genetic differences among healthy individuals and also as disease-susceptibility and/or disease-causing factors. Structural genomic variations due to unbalanced chromosomal rearrangements are known as Copy-Number Variants (CNVs) and these include variably sized deletions, duplications, triplications and translocations...
September 2018: Current Genomics
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