Baclofen-Naltrexone-Sorbitol for Charcot-Marie-Tooth DiseaseBaclofen-Naltrexone-Sorbitol for Charcot-Marie-Tooth Disease

Combining three familiar drugs that treat other conditions may help patients with Charcot-Marie-Tooth type 1A disease (CMT1A), a new proof-of-concept study suggests. Reuters Health Information
Source: Medscape Medical News Headlines - Category: Consumer Health News Tags: Neurology & Neurosurgery News Source Type: news

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Charcot‑Marie‑Tooth type 1A drug therapies: role of adenylyl cyclase activity and G‑protein coupled receptors in disease pathomechanism. Acta Neurobiol Exp (Wars). 2018;78(3):198-209 Authors: Kiepura AJ, Kochański A Abstract 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 v...
Source: Acta Neurobiologiae Experimentalis - Category: Neurology Authors: Tags: Acta Neurobiol Exp (Wars) Source Type: research
Charcot-Marie-Tooth (CMT) disease, a common inherited peripheral neuropathy, typically characterized with progressive motor and sensory polyneuropathy. It is clinically variable in its age of onset and level of severity. There are in excess of 75 genes attributed to CMT, amongst them is the Immunoglobulin-helicase- μ-binding protein 2 (IGHMBP2) gene. Pathogenic variants in IGHMBP2 is responsible for continuum between two extremes of phenotypes with fatal disorder of spinal muscular atrophy with respiratory distress type 1 (SMARD1) [1], where most infants die before 1 year of age [2] at one end and axonal prog ressive mo...
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: Case report Source Type: research
Transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant, systemic disease. First symptoms usually occur from the second to over sixth decade of life with ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research
In this study, we show that the receptor tyrosine kinase IGF1R is a new direct binding partner of KIF1Bβ, and its binding and transport is specifically impaired by the Y1087C mutation of KIF1Bβ, which we detected in hereditary neuropathic patients. The axonal outgrowth and IGF-I signaling of Kif1b–/– neurons were significantly impaired, consistent with decreased surface IGF1R expression. The complementary capacity of KIF1Bβ-Y1087C of these phenotypes was significantly impaired, but the binding capacity to synaptic vesicle precursors was not affected. These data have supported the relevance of KIF...
Source: Journal of Cell Biology - Category: Cytology Authors: Tags: Disease, Trafficking, Neuroscience Articles Source Type: research
Authors: Salpietro V, Manole A, Efthymiou S, Houlden H Abstract 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 a...
Source: Current Genomics - Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research
Authors: You Y, Wang X, Li S, Zhao X, Zhang X Abstract Charcot-Marie-Tooth (CMT) is a group of inherited peripheral neuropathies. To date, mutations in>80 genes are reportedly associated with CMT. Protein mitofusin 2 encoded by MFN2 serves an essential role in mitochondrial fusion and regulation of apoptosis, which has previously been reported to be highly associated with an axonal form of neuropathy (CMT2A). In the present study, a large Chinese family with severe CMT was reported and a genetic analysis of the disease was performed. A detailed physical examination for CMT was performed in 13 family members and ...
Source: Experimental and Therapeutic Medicine - Category: General Medicine Tags: Exp Ther Med Source Type: research
U Anandh, R Nikalji, A ParickIndian Journal of Nephrology 2018 28(5):397-400 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 rena...
Source: Indian Journal of Nephrology - Category: Urology & Nephrology Authors: Source Type: research
We report on a family with three siblings, male and female, affected by congenital bilateral limitation of vocal cord abduction, with the additional finding of clubfeet in two. The paternal family history suggests an autosomal dominant inheritance. The siblings and father also have mild craniofacial features, which may be an expression of variability or may be unrelated. The association between congenital vocal cord paralysis and clubfeet has been reported with additional major features or in the context of Charcot-Marie-Tooth disease. However, the two in isolation have only been reported in one other family previously. Ge...
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
CMS diagnosis often remains difficult, due to: 1) age at onset: (a) in neonates, congenital myopathy (CM) is suspected first; (b) if age at onset is> 2 years, seronegative autoimmune MG is hypothesized; 2) clinical expression differing from a common myasthenic syndrome, with atypical features such as (a) atrophy, scoliosis, contractures, prominent permanent muscle weakness overshadowing motor fluctuations, and myogenic pattern shown by electrophysiology (eg: DOK7), (b) unresponsiveness to/negative effect of AChE inhibitors (e.g.: COLQ); (c) atypical phenotypes initially orientating towards other neuromuscular diseases: ...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Charcot-Marie-Tooth (CMT) is the most frequent illness of peripheral nerve in pediatrics. The greater availability of genetic studies allows the characterization of the genotype and its correlation with the phenotype. To describe the genetic findings in a series of patients with CMT in Argentina. Patients under 18 years old, all with clinical and electromyographic findings compatible with CMT. Depending on the case, a study was completed for PMP22, panel CMT90 (PMP, MPZ, mitofusin, GJB1) or expanded panel.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
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