Charcot-Marie-Tooth Disease https://greenmedinfo.com/taxonomy/term/888/all en Atrophy: Muscular: Peroneal https://greenmedinfo.com/disease/atrophy-muscular-peroneal <div class="field field-image"> <div class="field-items"> <div class="field-item odd"> <img class="imagefield imagefield-field_image" width="450" height="278" alt="" src="//cdn.greenmedinfo.com/sites/default/files/LegMuscles.jpg?1468629580" /> </div> </div> </div> <div class="field field-copyright"> <div class="field-items"> <div class="field-item odd"> Copyright: &lt;a href=&#039;http://www.123rf.com/profile_hfsimaging&#039;&gt;hfsimaging / 123RF Stock Photo&lt;/a&gt; </div> </div> </div> <fieldset class="fieldgroup group-facebook-like-info"><legend>Facebook Like Info</legend><div class="field field-facebook-total-count"> <div class="field-items"> <div class="field-item odd"> 0 </div> </div> </div> </fieldset> Charcot-Marie-Tooth Disease HMSN I: II Tue, 14 Apr 2009 07:14:23 +0000 greenmedinfo 19104 at https://greenmedinfo.com Creatine may have therapeutic activity in patients with Charcot-Marie-Tooth disease. https://greenmedinfo.com/article/creatine-may-have-therapeutic-activity-patients-charcot-marie-tooth-disease PMID:  Muscle Nerve. 2006 Nov;34(5):586-94. PMID: 16881064 Abstract Title:  Effects of exercise and creatine on myosin heavy chain isoform composition in patients with Charcot-Marie-Tooth disease. Abstract:  It is not known whether myosin heavy chain (MHC) content changes in response to exercise training or creatine supplementation in subjects with Charcot-Marie-Tooth disease (CMT). Based on previous data, we hypothesized that resistance exercise and creatine would increase the percentage of type I MHC composition in the vastus lateralis muscle and that myosin isoform changes would correlate with improved chair rise-time in CMT subjects. To test this hypothesis, 18 CMT subjects were randomly assigned to either a placebo or creatine group. All subjects performed a 12-week, home-based, moderate-intensity resistance training program. Chair rise-time was measured before and after the training program. Muscle biopsies were obtained from the vastus lateralis before and after the 12-week program. Gel electrophoresis showed a significant decrease (approximately 30%) in MHC type I in CMT subjects given creatine supplementation when compared with placebo. There was a nonsignificant increase in both MHC type IIa (approximately 23%) and MHC type IIx (approximately 7%) in CMT subjects given creatine. Reduced MHC type I content and increased MHC type IIa content correlated with faster chair rise-times (i.e., improved muscle performance). The training-induced change in MHC IIa content was inversely correlated with chair rise-time in CMT subjects given creatine. When the two subject groups were combined, there was a linear, negative relationship between the change in MHC type IIa content and chair rise-time after training and a positive relationship between the training-induced change in MHC type I content and chair rise-time. These data suggest that improved function (chair rise-time) was associated with a lower level of MHC type I and increased MHC type IIa composition. Furthermore, the data are consistent with the hypothesis that creatine supplementation alters MHC composition in CMT patients undergoing resistance training and that MHC changes associated with creatine supplementation can improve muscle function. https://greenmedinfo.com/article/creatine-may-have-therapeutic-activity-patients-charcot-marie-tooth-disease#comments Charcot-Marie-Tooth Disease Creatine Human Study Thu, 15 Jul 2010 18:40:29 +0000 greenmedinfo 55682 at https://greenmedinfo.com Curcumin treatment may have a therapeutic role in treating selected forms of inherited peripheral neuropathies. https://greenmedinfo.com/article/curcumin-treatment-may-have-therapeutic-role-treating-selected-forms-inherited PMID:  Am J Hum Genet. 2005 Nov;77(5):841-50. Epub 2005 Sep 30. PMID: 16252242 Abstract Title:  Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Abstract:  Mutations in MPZ, the gene encoding myelin protein zero (MPZ), the major protein constituent of peripheral myelin, can cause the adult-onset, inherited neuropathy Charcot-Marie-Tooth disease, as well as the more severe, childhood-onset Dejerine-Sottas neuropathy and congenital hypomyelinating neuropathy. Most MPZ-truncating mutations associated with severe forms of peripheral neuropathy result in premature termination codons within the terminal or penultimate exons that are not subject to nonsense-mediated decay and are stably translated into mutant proteins with potential dominant-negative activity. However, some truncating mutations at the 3&#039; end of MPZ escape the nonsense-mediated decay pathway and cause a mild peripheral neuropathy phenotype. We examined the functional properties of MPZ-truncating proteins that escaped nonsense-mediated decay, and we found that frameshift mutations associated with severe disease cause an intracellular accumulation of mutant proteins, primarily within the endoplasmic reticulum (ER), which induces apoptosis. Curcumin, a chemical compound derived from the curry spice tumeric, releases the ER-retained MPZ mutants into the cytoplasm accompanied by a lower number of apoptotic cells. Our findings suggest that curcumin treatment is sufficient to relieve the toxic effect of mutant aggregation-induced apoptosis and may potentially have a therapeutic role in treating selected forms of inherited peripheral neuropathies. https://greenmedinfo.com/article/curcumin-treatment-may-have-therapeutic-role-treating-selected-forms-inherited#comments Charcot-Marie-Tooth Disease Curcumin Dejerine-Sottas Disease Peripheral Neuropathies Apoptotic Animal Study Thu, 15 Jul 2010 18:41:55 +0000 greenmedinfo 55683 at https://greenmedinfo.com Hereditary Motor and Sensory-Neuropathy Type II https://greenmedinfo.com/disease/hereditary-motor-and-sensory-neuropathy-type-ii <div class="field field-image"> <div class="field-items"> <div class="field-item odd"> <img class="imagefield imagefield-field_image" width="450" height="450" alt="" src="//cdn.greenmedinfo.com/sites/default/files/NervousSystem_75.jpg?1477265489" /> </div> </div> </div> <div class="field field-copyright"> <div class="field-items"> <div class="field-item odd"> Copyright: &lt;a href=&#039;http://www.123rf.com/profile_pixologic&#039;&gt;pixologic / 123RF Stock Photo&lt;/a&gt; </div> </div> </div> <fieldset class="fieldgroup group-facebook-like-info"><legend>Facebook Like Info</legend><div class="field field-facebook-total-count"> <div class="field-items"> <div class="field-item odd"> 0 </div> </div> </div> </fieldset> Charcot-Marie-Tooth Disease HMSN I: II Tue, 14 Apr 2009 07:19:15 +0000 greenmedinfo 20341 at https://greenmedinfo.com Hereditary Motor: and Sensory Neuropathy Type I https://greenmedinfo.com/disease/hereditary-motor-and-sensory-neuropathy-type-i <div class="field field-image"> <div class="field-items"> <div class="field-item odd"> <img class="imagefield imagefield-field_image" width="450" height="450" alt="" src="//cdn.greenmedinfo.com/sites/default/files/NervousSystem_76.jpg?1477265562" /> </div> </div> </div> <div class="field field-copyright"> <div class="field-items"> <div class="field-item odd"> Copyright: &lt;a href=&#039;http://www.123rf.com/profile_pixologic&#039;&gt;pixologic / 123RF Stock Photo&lt;/a&gt; </div> </div> </div> <fieldset class="fieldgroup group-facebook-like-info"><legend>Facebook Like Info</legend><div class="field field-facebook-total-count"> <div class="field-items"> <div class="field-item odd"> 0 </div> </div> </div> </fieldset> Charcot-Marie-Tooth Disease HMSN I: II Tue, 14 Apr 2009 07:19:15 +0000 greenmedinfo 20342 at https://greenmedinfo.com HMSN Type I https://greenmedinfo.com/disease/hmsn-type-i <div class="field field-image"> <div class="field-items"> <div class="field-item odd"> <img class="imagefield imagefield-field_image" width="450" height="450" alt="" src="//cdn.greenmedinfo.com/sites/default/files/NervousSystem_85.jpg?1477518167" /> </div> </div> </div> <div class="field field-copyright"> <div class="field-items"> <div class="field-item odd"> Copyright: &lt;a href=&#039;http://www.123rf.com/profile_pixologic&#039;&gt;pixologic / 123RF Stock Photo&lt;/a&gt; </div> </div> </div> <fieldset class="fieldgroup group-facebook-like-info"><legend>Facebook Like Info</legend><div class="field field-facebook-total-count"> <div class="field-items"> <div class="field-item odd"> 0 </div> </div> </div> </fieldset> Charcot-Marie-Tooth Disease HMSN I: II Tue, 14 Apr 2009 07:19:29 +0000 greenmedinfo 20397 at https://greenmedinfo.com HMSN Type II https://greenmedinfo.com/disease/hmsn-type-ii <div class="field field-image"> <div class="field-items"> <div class="field-item odd"> <img class="imagefield imagefield-field_image" width="450" height="450" alt="" src="//cdn.greenmedinfo.com/sites/default/files/NervousSystem_86.jpg?1477518249" /> </div> </div> </div> <div class="field field-copyright"> <div class="field-items"> <div class="field-item odd"> Copyright: &lt;a href=&#039;http://www.123rf.com/profile_pixologic&#039;&gt;pixologic / 123RF Stock Photo&lt;/a&gt; </div> </div> </div> <fieldset class="fieldgroup group-facebook-like-info"><legend>Facebook Like Info</legend><div class="field field-facebook-total-count"> <div class="field-items"> <div class="field-item odd"> 0 </div> </div> </div> </fieldset> Charcot-Marie-Tooth Disease HMSN I: II Tue, 14 Apr 2009 07:19:29 +0000 greenmedinfo 20398 at https://greenmedinfo.com Intermittent fasting alleviates the neuropathic phenotype in a mouse model of Charcot-Marie-Tooth disease. https://greenmedinfo.com/article/intermittent-fasting-alleviates-neuropathic-phenotype-mouse-model-charcot-mari PMID:  Ann Dermatol Venereol. 2006 May;133(5 Pt 1):425-8. PMID: 19320048 Abstract Title:  Intermittent fasting alleviates the neuropathic phenotype in a mouse model of Charcot-Marie-Tooth disease. Abstract:  Charcot-Marie-Tooth type 1A (CMT1A) neuropathies linked to the misexpression of peripheral myelin protein 22 (PMP22) are progressive demyelinating disorders of the peripheral nervous system. In this study we asked whether dietary restriction by intermittent fasting (IF) could alleviate the neuropathic phenotype in the Trembler J (TrJ) mouse model of CMT1A. Our results show that neuropathic mice kept on a five month long IF regimen had improved locomotor performance compared to ad libitum (AL) fed littermates. The functional benefits of this dietary intervention are associated with an increased expression of myelin proteins combined with a thicker myelin sheath, less redundant basal lamina, and a reduction in aberrant Schwann cell proliferation. These morphological improvements are accompanied by a decrease in PMP22 protein aggregates, and enhanced expression of cytosolic chaperones and constituents of the autophagy-lysosomal pathway. These results indicate that dietary restriction is beneficial for peripheral nerve function in TrJ neuropathic mice, as it promotes the maintenance of locomotor performance. https://greenmedinfo.com/article/intermittent-fasting-alleviates-neuropathic-phenotype-mouse-model-charcot-mari#comments Charcot-Marie-Tooth Disease Antiproliferative Fasting/Caloric Restriction Animal Study Thu, 15 Jul 2010 18:33:33 +0000 greenmedinfo 55679 at https://greenmedinfo.com Muscular Atrophy: Peroneal https://greenmedinfo.com/disease/muscular-atrophy-peroneal <div class="field field-image"> <div class="field-items"> <div class="field-item odd"> <img class="imagefield imagefield-field_image" width="270" height="450" alt="" src="//cdn.greenmedinfo.com/sites/default/files/LegMuscles_0.jpg?1482434311" /> </div> </div> </div> <div class="field field-copyright"> <div class="field-items"> <div class="field-item odd"> Copyright: &lt;a href=&#039;http://www.123rf.com/profile_Eraxion&#039;&gt;Eraxion / 123RF Stock Photo&lt;/a&gt; </div> </div> </div> <fieldset class="fieldgroup group-facebook-like-info"><legend>Facebook Like Info</legend><div class="field field-facebook-total-count"> <div class="field-items"> <div class="field-item odd"> 0 </div> </div> </div> </fieldset> Charcot-Marie-Tooth Disease HMSN I: II Tue, 14 Apr 2009 07:22:27 +0000 greenmedinfo 21079 at https://greenmedinfo.com Oral curcumin may have therapeutic activity in treating inherited peripheral neuropathies. https://greenmedinfo.com/article/oral-curcumin-may-have-therapeutic-activity-treating-inherited-peripheral-neur PMID:  Am J Hum Genet. 2007 Sep;81(3):438-53. Epub 2007 Aug 3. PMID: 17701891 Abstract Title:  Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Abstract:  Mutations in myelin genes cause inherited peripheral neuropathies that range in severity from adult-onset Charcot-Marie-Tooth disease type 1 to childhood-onset Dejerine-Sottas neuropathy and congenital hypomyelinating neuropathy. Many myelin gene mutants that cause severe disease, such as those in the myelin protein zero gene (MPZ) and the peripheral myelin protein 22 gene (PMP22), appear to make aberrant proteins that accumulate primarily within the endoplasmic reticulum (ER), resulting in Schwann cell death by apoptosis and, subsequently, peripheral neuropathy. We previously showed that curcumin supplementation could abrogate ER retention and aggregation-induced apoptosis associated with neuropathy-causing MPZ mutants. We now show reduced apoptosis after curcumin treatment of cells in tissue culture that express PMP22 mutants. Furthermore, we demonstrate that oral administration of curcumin partially mitigates the severe neuropathy phenotype of the Trembler-J mouse model in a dose-dependent manner. Administration of curcumin significantly decreases the percentage of apoptotic Schwann cells and results in increased number and size of myelinated axons in sciatic nerves, leading to improved motor performance. Our findings indicate that curcumin treatment is sufficient to relieve the toxic effect of mutant aggregation-induced apoptosis and improves the neuropathologic phenotype in an animal model of human neuropathy, suggesting a potential therapeutic role in selected forms of inherited peripheral neuropathies. https://greenmedinfo.com/article/oral-curcumin-may-have-therapeutic-activity-treating-inherited-peripheral-neur#comments Charcot-Marie-Tooth Disease Curcumin Dejerine-Sottas Disease Demyelinating Diseases Peripheral Neuropathies Apoptotic Animal Study Thu, 15 Jul 2010 18:36:18 +0000 greenmedinfo 55680 at https://greenmedinfo.com Peroneal Muscular Atrophy https://greenmedinfo.com/disease/peroneal-muscular-atrophy <div class="field field-image"> <div class="field-items"> <div class="field-item odd"> <img class="imagefield imagefield-field_image" width="450" height="354" alt="" src="//cdn.greenmedinfo.com/sites/default/files/MuscularSystem_53.jpg?1484787667" /> </div> </div> </div> <div class="field field-copyright"> <div class="field-items"> <div class="field-item odd"> Copyright: &lt;a href=&#039;http://www.123rf.com/profile_elenabsl&#039;&gt;elenabsl / 123RF Stock Photo&lt;/a&gt; </div> </div> </div> <fieldset class="fieldgroup group-facebook-like-info"><legend>Facebook Like Info</legend><div class="field field-facebook-total-count"> <div class="field-items"> <div class="field-item odd"> 0 </div> </div> </div> </fieldset> Charcot-Marie-Tooth Disease HMSN I: II Tue, 14 Apr 2009 07:24:16 +0000 greenmedinfo 21516 at https://greenmedinfo.com Roussy-Levy Syndrome https://greenmedinfo.com/disease/roussy-levy-syndrome <div class="field field-image"> <div class="field-items"> <div class="field-item odd"> <img class="imagefield imagefield-field_image" width="450" height="354" alt="" src="//cdn.greenmedinfo.com/sites/default/files/MuscularSystem_67.jpg?1486158317" /> </div> </div> </div> <div class="field field-copyright"> <div class="field-items"> <div class="field-item odd"> Copyright: &lt;a href=&#039;http://www.123rf.com/profile_elenabsl&#039;&gt;elenabsl / 123RF Stock Photo&lt;/a&gt; </div> </div> </div> <fieldset class="fieldgroup group-facebook-like-info"><legend>Facebook Like Info</legend><div class="field field-facebook-total-count"> <div class="field-items"> <div class="field-item odd"> 0 </div> </div> </div> </fieldset> Charcot-Marie-Tooth Disease HMSN I: II Tue, 14 Apr 2009 07:25:48 +0000 greenmedinfo 21896 at https://greenmedinfo.com Vitamin C may have a therapeutic role in the treatment of Charcot-Marie Tooth disease - Article 2. https://greenmedinfo.com/article/vitamin-c-may-have-therapeutic-role-treatment-charcot-marie-tooth-disease-arti PMID:  Nat Med. 2004 Apr;10(4):396-401. Epub 2004 Mar 21. PMID: 15034573 Abstract Title:  Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Abstract:  Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy, affecting 1 in 2,500 people. The only treatment currently available is rehabilitation or corrective surgery. The most frequent form of the disease, CMT-1A, involves abnormal myelination of the peripheral nerves. Here we used a mouse model of CMT-1A to test the ability of ascorbic acid, a known promoter of myelination, to correct the CMT-1A phenotype. Ascorbic acid treatment resulted in substantial amelioration of the CMT-1A phenotype, and reduced the expression of PMP22 to a level below what is necessary to induce the disease phenotype. As ascorbic acid has already been approved by the FDA for other clinical indications, it offers an immediate therapeutic possibility for patients with the disease. https://greenmedinfo.com/article/vitamin-c-may-have-therapeutic-role-treatment-charcot-marie-tooth-disease-arti#comments Charcot-Marie-Tooth Disease Vitamin C Animal Study Thu, 15 Jul 2010 18:48:34 +0000 greenmedinfo 55685 at https://greenmedinfo.com Vitamin C may have a therapeutic role in the treatment of Charcot-Marie Tooth disease. https://greenmedinfo.com/article/vitamin-c-may-have-therapeutic-role-treatment-charcot-marie-tooth-disease PMID:  PLoS One. 2009;4(2):e4409. Epub 2009 Feb 6. PMID: 19197388 Abstract Title:  Antiproliferative effect of ascorbic acid is associated with the inhibition of genes necessary to cell cycle progression. Abstract:  BACKGROUND: Ascorbic acid (AA), or Vitamin C, is most well known as a nutritional supplement with antioxidant properties. Recently, we demonstrated that high concentrations of AA act on PMP22 gene expression and partially correct the Charcot-Marie-Tooth disease phenotype in a mouse model. This is due to the capacity of AA, but not other antioxidants, to down-modulate cAMP intracellular concentration by a competitive inhibition of the adenylate cyclase enzymatic activity. Because of the critical role of cAMP in intracellular signalling, we decided to explore the possibility that ascorbic acid could modulate the expression of other genes. METHODS AND FINDINGS: Using human pangenomic microarrays, we found that AA inhibited the expression of two categories of genes necessary for cell cycle progression, tRNA synthetases and translation initiation factor subunits. In in vitro assays, we demonstrated that AA induced the S-phase arrest of proliferative normal and tumor cells. Highest concentrations of AA leaded to necrotic cell death. However, quiescent cells were not susceptible to AA toxicity, suggesting the blockage of protein synthesis was mainly detrimental in metabolically-active cells. Using animal models, we found that high concentrations of AA inhibited tumor progression in nude mice grafted with HT29 cells (derived from human colon carcinoma). Consistently, expression of tRNA synthetases and ieF2 appeared to be specifically decreased in tumors upon AA treatment. CONCLUSIONS: AA has an antiproliferative activity, at elevated concentration that could be obtained using IV injection. This activity has been observed in vitro as well in vivo and likely results from the inhibition of expression of genes involved in protein synthesis. Implications for a clinical use in anticancer therapies will be discussed. https://greenmedinfo.com/article/vitamin-c-may-have-therapeutic-role-treatment-charcot-marie-tooth-disease#comments Charcot-Marie-Tooth Disease Vitamin C Antiproliferative Cell cycle arrest Animal Study Thu, 15 Jul 2010 18:47:05 +0000 greenmedinfo 55684 at https://greenmedinfo.com