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Charcot marie tooth ascorbic acid

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https://www.readbyqxmd.com/read/27412484/nerve-conduction-velocity-in-cmt1a-what-else-can-we-tell
#1
F Manganelli, C Pisciotta, M M Reilly, S Tozza, A Schenone, G M Fabrizi, T Cavallaro, G Vita, L Padua, F Gemignani, M Laurà, R A C Hughes, A Solari, D Pareyson, L Santoro
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant since the first years of life, remains fairly stable through the life and does not correlate with disability whereas compound muscular action potential (CMAP) amplitude does. The aim of the present study was to analyze the large amount of electrophysiological data collected in the ascorbic acid trial in Italy and the UK (CMT-TRIAAL/CMT-TRAUK) and to use these data to gain insights into the pathophysiology of NCV in CMT1A...
October 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/26662471/ascorbic-acid-for-the-treatment-of-charcot-marie-tooth-disease
#2
REVIEW
Burkhard Gess, Jonathan Baets, Peter De Jonghe, Mary M Reilly, Davide Pareyson, Peter Young
BACKGROUND: Charcot-Marie-Tooth disease (CMT) comprises a large group of different forms of hereditary motor and sensory neuropathy. The molecular basis of several CMT subtypes has been clarified during the last 20 years. Since slowly progressive muscle weakness and sensory disturbances are the main features of these syndromes, treatments aim to improve motor impairment and sensory disturbances to improve abilities. Pharmacological treatment trials in CMT are rare. This review was derived from a Cochrane review, Treatment for Charcot Marie Tooth disease, which will be updated via this review and a forthcoming title, Treatments other than ascorbic acid for Charcot-Marie-Tooth disease...
December 11, 2015: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/26450076/-ascorbic-acid-and-charcot-marie-tooth-disease
#3
REVIEW
Yu-ichi Noto
Charcot-Marie-Tooth disease type 1A (CMT1A) is a disease for which no drug treatments are available. Passage et al. reported that ascorbic acid reduced the mRNA level of PMP22, improved motor function and increased the numbers of myelinated peripheral nerve axons in a mouse model of CMT1A. Based on these results, five clinical trials were undertaken at different centers worldwide. However, none of them demonstrated significant effectiveness. Although these outcomes were disappointing, these studies have provided many useful insights for conducting the next randomised controlled trial for CMT1A...
October 2015: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/26227902/responsiveness-of-clinical-outcome-measures-in-charcot-marie-tooth-disease
#4
G Piscosquito, M M Reilly, A Schenone, G M Fabrizi, T Cavallaro, L Santoro, F Manganelli, G Vita, A Quattrone, L Padua, F Gemignani, F Visioli, M Laurà, D Calabrese, R A C Hughes, D Radice, A Solari, D Pareyson
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) is a very slowly progressive neuropathy which makes it difficult to detect disease progression over time and to assess intervention efficacy. Experience from completed clinical trials with ascorbic acid and natural history studies confirm difficulties in detecting such changes. Consequently, sensitive-to-change outcome measures (OMs) are urgently needed. METHODS: The relative responsiveness of clinical scales of the Italian-UK ascorbic acid trial (placebo arm) were assessed by using the standardized response mean (SRM), which is the ratio of the paired scores mean change over time to the standard deviation of the score change (0 is worst responsiveness)...
December 2015: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/25842560/charcot-marie-tooth-type-1a-disease-from-patient-to-laboratory
#5
REVIEW
Shazia Perveen, Shazia Mannan, Abrar Hussain, Sumaira Kanwal
Charcot-Marie-Tooth (CMT) disease is a well-known neural or spinal type of muscular atrophy. It is the most familiar disease within a group of conditions called Hereditary Motor and Sensory Neuropathies (HMSN). The disease was discovered by three scientists several years ago. Several genes are involved as the causative agents for the disease. Hundreds of causative mutations have been found and research work for the identification of a novel locus and for the treatment of CMT1A is going on. This review article was planned to gather information on CMT disease and updates on its treatment...
February 2015: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/25519471/interventions-for-fatigue-in-peripheral-neuropathy
#6
REVIEW
Claire M White, Pieter A van Doorn, Marcel P J Garssen, Rachel C Stockley
BACKGROUND: Persistent feelings of fatigue (or subjective fatigue), which may be experienced in the absence of physiological factors, affect many people with peripheral neuropathy. A variety of interventions for subjective fatigue are available, but little is known about their efficacy or the likelihood of any adverse effects for people with peripheral neuropathy. OBJECTIVES: To assess the effects of drugs and physical, psychological or behavioural interventions for fatigue in adults or children with peripheral neuropathy...
2014: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/25110935/recent-advances-in-charcot-marie-tooth-disease
#7
REVIEW
Jonathan Baets, Peter De Jonghe, Vincent Timmerman
PURPOSE OF REVIEW: This article focuses on recent advances in Charcot-Marie-Tooth disease, in particular additions to the genetic spectrum, novel paradigms in molecular techniques and an update on therapeutic strategies. RECENT FINDINGS: Several new Charcot-Marie-Tooth disease-causing genes have been recently identified, further enlarging the genetic diversity and phenotypic variability, including: SBF1, DHTKD1, TFG, MARS, HARS, HINT1, TRIM1, AIFM1, PDK3 and GNB4...
October 2014: Current Opinion in Neurology
https://www.readbyqxmd.com/read/25108281/hereditary-motor-and-sensory-neuropathies-understanding-molecular-pathogenesis-could-lead-to-future-treatment-strategies
#8
REVIEW
Nivedita U Jerath, Michael E Shy
Inherited peripheral neuropathies, like many other degenerative disorders, have been challenging to treat. At this point, there is little specific therapy for the inherited neuropathies other than genetic counseling as well as symptomatic treatment and rehabilitation. In the past, ascorbic acid, progesterone antagonists, and subcutaneous neurotrophin-3 (NT3) injections have demonstrated improvement in animal models of CMT 1A, the most common inherited neuropathy, but have failed to translate any effect in humans...
April 2015: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/24812204/pmp22-messenger-rna-levels-in-skin-biopsies-testing-the-effectiveness-of-a-charcot-marie-tooth-1a-biomarker
#9
Lucilla Nobbio, Davide Visigalli, Davide Radice, Elisabetta Fiorina, Alessandra Solari, Giuseppe Lauria, Mary M Reilly, Lucio Santoro, Angelo Schenone, Davide Pareyson
Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with increased gene dosage for PMP22. Therapeutic approaches are currently aiming at correcting PMP22 over-expression. It is unknown whether PMP22 can be used as a biological marker of disease progression and therapy efficacy. We performed quantitative real-time polymerase chain reaction on skin biopsies of 45 patients with CMT1A, obtained at study entry and after 24-months of treatment either with ascorbic acid or placebo. Data of a subgroup of patients were also compared with matched healthy subjects...
June 2014: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/23931817/dominant-charcot-marie-tooth-syndrome-and-cognate-disorders
#10
REVIEW
Davide Pareyson, Chiara Marchesi, Ettore Salsano
Charcot-Marie-Tooth neuropathy (CMT) is a group of genetically heterogeneous disorders sharing a similar phenotype, characterized by wasting and weakness mainly involving the distal muscles of lower and upper limbs, variably associated with distal sensory loss and skeletal deformities. This chapter deals with dominantly transmitted CMT and related disorders, namely hereditary neuropathy with liability to pressure palsies (HNPP) and hereditary neuralgic amyotrophy (HNA). During the last 20 years, several genes have been uncovered associated with CMT and our understanding of the underlying molecular mechanisms has greatly improved...
2013: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/23797977/whither-hope-for-pharmacological-treatment-of-charcot-marie-tooth-disease-type-1a
#11
EDITORIAL
Pragna I Patel, David Pleasure
No abstract text is available yet for this article.
August 2013: JAMA Neurology
https://www.readbyqxmd.com/read/23797954/high-dosage-ascorbic-acid-treatment-in-charcot-marie-tooth-disease-type-1a-results-of-a-randomized-double-masked-controlled-trial
#12
RANDOMIZED CONTROLLED TRIAL
Richard A Lewis, Michael P McDermott, David N Herrmann, Ahmet Hoke, Lora L Clawson, Carly Siskind, Shawna M E Feely, Lindsey J Miller, Richard J Barohn, Patricia Smith, Elizabeth Luebbe, Xingyao Wu, Michael E Shy
IMPORTANCE: No current medications improve neuropathy in subjects with Charcot-Marie-Tooth disease type 1A (CMT1A). Ascorbic acid (AA) treatment improved the neuropathy of a transgenic mouse model of CMT1A and is a potential therapy. A lower dosage (1.5 g/d) did not cause improvement in humans. It is unknown whether a higher dosage would prove more effective. OBJECTIVE: To determine whether 4-g/d AA improves the neuropathy of subjects with CMT1A. DESIGN: A futility design to determine whether AA was unable to reduce worsening on the CMT Neuropathy Score (CMTNS) by at least 50% over a 2-year period relative to a natural history control group...
August 2013: JAMA Neurology
https://www.readbyqxmd.com/read/23642070/ascorbic-acid-and-sodium-dependent-vitamin-c-transporters-in-the-peripheral-nervous-system-from-basic-science-to-clinical-trials
#13
REVIEW
Burkhard Gess, Dominik Röhr, Peter Young
SIGNIFICANCE: Ascorbic acid and sodium-dependent vitamin C transporters (SVCT) have been shown to have important functions in the peripheral nervous system (PNS). Ascorbic acid is known to promote myelination in vitro in Schwann cell/dorsal root ganglion co-cultures by the formation of a collagen- and laminin-containing extracellular matrix. RECENT ADVANCES: Recently, the function of ascorbic acid and SVCT2 in the PNS has been shown in vivo as well. Several studies on ascorbic acid treatment of Charcot-Marie-Tooth neuropathy 1A (CMT1A) have been completed and showed no clinical benefit...
December 10, 2013: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/23525455/vitamin-c-and-charcot-marie-tooth-1a-pharmacokinetic-considerations
#14
F Visioli, M M Reilly, M Rimoldi, A Solari, D Pareyson
Charcot-Marie-Tooth 1A disease (CMT1A) is a disease for which no drug treatments are available. In 2004, it was reported that ascorbic acid reduced the severity of neuropathy in transgenic mice overexpressing PMP22, an animal model of human CMT1A, compared with untreated mice. Based on those results, clinical trials were undertaken at different centers worldwide and four of them have been completed, but none of them resulted in significant improvements. Based on the pharmacokinetics of ascorbic acid, we propose that the randomized clinical trial carried out thus far confirmed the tight control of ascorbic acid's absorption and proved its tolerability at one and two years...
January 2013: PharmaNutrition
https://www.readbyqxmd.com/read/22277462/-therapeutic-strategies-for-charcot-marie-tooth-disease
#15
Masanori Nakagawa
Recently, causative gene discovery and genetic diagnosis system for Charcot-Marie-Tooth disease (CMT) have been rapidly developed. These genetic information and research progress, however, have not been informed to medical staff and CMT patients. CMT-Japan, which is an association of Japanese CMT patients, has been organized in 2008. Many of CMTJ members have not been diagnosed genetically. Most of medical staff and CMT patients may imagine that there is no hope for the CMT feature. Research on CMT therapy, however, has been progressing such as clinical trial of ascorbic acid, and experimental trial of curcumin and antiprogesterone...
November 2011: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/22114285/sodium-dependent-vitamin-c-transporter-2-deficiency-causes-hypomyelination-and-extracellular-matrix-defects-in-the-peripheral-nervous-system
#16
COMPARATIVE STUDY
Burkhard Gess, Dominik Röhr, Robert Fledrich, Michael W Sereda, Ilka Kleffner, Anne Humberg, Johanna Nowitzki, Jan-Kolja Strecker, Hartmut Halfter, Peter Young
Ascorbic acid (vitamin C) is necessary for myelination of Schwann cell/neuron cocultures and has shown beneficial effects in the treatment of a Charcot-Marie-Tooth neuropathy 1A (CMT1A) mouse model. Although clinical studies revealed that ascorbic acid treatment had no impact on CMT1A, it is assumed to have an important function in peripheral nerve myelination and possibly in remyelination. However, the transport pathway of ascorbic acid into peripheral nerves and the mechanism of ascorbic acid function in peripheral nerves in vivo remained unclear...
November 23, 2011: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/21393064/ascorbic-acid-for-treatment-in-cmt1a-what-s-next
#17
COMMENT
Marianne de Visser, Camiel Verhamme
No abstract text is available yet for this article.
April 2011: Lancet Neurology
https://www.readbyqxmd.com/read/21393063/ascorbic-acid-in-charcot-marie-tooth-disease-type-1a-cmt-triaal-and-cmt-trauk-a-double-blind-randomised-trial
#18
RANDOMIZED CONTROLLED TRIAL
Davide Pareyson, Mary M Reilly, Angelo Schenone, Gian Maria Fabrizi, Tiziana Cavallaro, Lucio Santoro, Giuseppe Vita, Aldo Quattrone, Luca Padua, Franco Gemignani, Francesco Visioli, Matilde Laurà, Davide Radice, Daniela Calabrese, Richard A C Hughes, Alessandra Solari
BACKGROUND: Ascorbic acid reduced the severity of neuropathy in transgenic mice overexpressing peripheral myelin protein 22 (PMP22), a model of Charcot-Marie-Tooth disease type 1A (CMT1A) associated with the PMP22 duplication. However, in three 1-year trials, ascorbic acid had no benefit in human beings. We did a multicentre 2-year trial to test the efficacy and tolerability of ascorbic acid in patients with CMT1A. METHODS: Adult patients (aged 18-70 years) with symptomatic CMT1A were enrolled from nine centres in Italy and the UK, and were randomly assigned (1:1 ratio) to receive 1·5 g/day oral ascorbic acid or matching placebo for 24 months...
April 2011: Lancet Neurology
https://www.readbyqxmd.com/read/21286948/inherited-neuropathies
#19
Angelo Schenone, Lucilla Nobbio, Margherita Monti Bragadin, Giulia Ursino, Marina Grandis
Inherited peripheral neuropathies are among the most common hereditary diseases of the nervous system. Charcot-Marie-Tooth (CMT) disease, also known from previous classifications as hereditary motor and sensory neuropathy (HMSN), is certainly the most common inherited neuropathy. In the past several years, various treatments for CMT have been proposed, although specific therapies are not yet available. In clinical practice, rehabilitative strategies remain the most helpful therapeutic approach to these patients...
April 2011: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/20733147/determinants-of-reduced-health-related-quality-of-life-in-pediatric-inherited-neuropathies
#20
J Burns, S Ramchandren, M M Ryan, M Shy, R A Ouvrier
OBJECTIVE: We have shown that health-related quality of life (QOL) in children with inherited neuropathies (Charcot-Marie-Tooth disease [CMT]) is significantly reduced compared to population norms, thus establishing its utility as an outcome measure in therapeutic trials. However, the Australian ascorbic acid trial in children with CMT type 1A (CMT1A) identified no change in QOL scores despite a trend toward improvement in nerve conduction velocities in the treated group. The objective of this study was to identify clinical, electrophysiologic, and functional correlates of QOL in children with CMT1A, to guide future investigations of strategies to improve QOL and reduce disability in these patients...
August 24, 2010: Neurology
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