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Charcot-Marie-Tooth review

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https://www.readbyqxmd.com/read/30077638/the-role-of-pseudophosphatases-as-signaling-regulators
#1
REVIEW
Shantá D Hinton
Pseudophosphatases are atypical members of the protein tyrosine phosphatase superfamily. Mutations within their catalytic signature motif render them catalytically inactive. Despite this lack of catalytic function, pseudophosphatases have been implicated in various diseases such as Charcot Marie-Tooth disorder, cancer, metabolic disorder, and obesity. Moreover, they have roles in various signaling networks such as spermatogenesis, apoptosis, stress response, tumorigenesis, and neurite differentiation. This review highlights the roles of pseudophosphatases as essential regulators in signaling cascades, providing insight into the function of these catalytically inactive enzymes...
August 2, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/30064288/urogenital-dysfunction-in-male-patients-with-charcot-marie-tooth-a-systematic-review
#2
Rossella Cannarella, Giovanni Burgio, Enzo S Vicari, Sandro La Vignera, Rosita A Condorelli, Aldo E Calogero
INTRODUCTION: Charcot-Marie-Tooth (CMT) is the most common inherited polyneuropathy. Polyneuropathies are likely to affect the urogenital system. Urogenital dysfunction is rarely investigated and may be underestimated in CMT patients. AIM: The aim of the present study was to perform a systematic review of the literature to collect all the available evidence on the presence of urogenital dysfunction and in patients with CMT. METHODS: Data sources were MEDLINE, Pubmed, Scopus, and Google Scholar...
July 31, 2018: Aging Male: the Official Journal of the International Society for the Study of the Aging Male
https://www.readbyqxmd.com/read/30042657/what-s-the-function-of-connexin-32-in-the-peripheral-nervous-system
#3
REVIEW
Mario Bortolozzi
Connexin 32 (Cx32) is a fundamental protein in the peripheral nervous system (PNS) as its mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), the second most common form of hereditary motor and sensory neuropathy and a demyelinating disease for which there is no effective therapy. Since mutations of the GJB1 gene encoding Cx32 were first reported in 1993, over 450 different mutations associated with CMT1X including missense, frameshift, deletion and non-sense ones have been identified...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/30018047/challenges-in-modelling-the-charcot-marie-tooth-neuropathies-for-therapy-development
#4
Manisha Juneja, Joshua Burns, Mario A Saporta, Vincent Timmerman
Much has been achieved in terms of understanding the complex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT). Since the identification of mutations in the first CMT associated gene, PMP22 , the technological advancement in molecular genetics and gene technology has allowed scientists to generate diverse animal models expressing monogenetic mutations that closely resemble the CMT phenotype. Additionally, one can now culture patient-derived neurons in a dish using cellular reprogramming and differentiation techniques...
July 17, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30013503/the-electrophysiological-features-in-x-linked-charcot-marie-tooth-disease-with-transient-central-nervous-system-deficits
#5
Qingxian Wen, Longqiao Cao, Cun Yang, Yanchen Xie
Background: Electrophysiological examination plays an important role in the diagnosis of X-linked Charcot-Marie-Tooth disease (CMTX1) with transient central nervous system deficits. However, the electrophysiological features are seldom reported. Methods: We reviewed and analyzed published reports to determine the electrophysiological features of CMTX1 patients with transient central nervous system deficits. Results: A total of 21 CMTX1 patients with transient central nervous system deficits were found in 17 published case reports/series...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29877907/heterozygosity-for-cmt-type-4-predicts-a-severe-vincristine-induced-polyneuropathy-phenotype-a-case-report-and-review-of-literature
#6
Andrew Sy, Jerry Cheng, Robert Cooper, Lisa Mueller
Vincristine (VCR) is a common chemotherapeutic agent used in the treatment of multiple types of pediatric tumors. VCR's adverse effects are well documented and commonly involve peripheral neuropathy via axonal degeneration. Neuropathic severity is dose-dependent, with sensory deficits occurring with as little as 4 mg cumulative dose. Severe peripheral neuropathy is generally rare, but its effects become additive when given to patients with undiagnosed hereditary peripheral neuropathy such as Charcot-Marie-Tooth...
June 5, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29780422/cochlear-implantation-in-charcot-marie-tooth-disease-case-report-and-review-of-the-literature
#7
C Lane Anzalone, Sarah Nuhanovic, Amy P Olund, Matthew L Carlson
Introduction: Charcot-Marie-Tooth (CMT) disease is a peripheral hereditary neuropathy associated with motor and sensory impairment and can result in profound sensorineural hearing loss (SNHL). Currently, the role of cochlear implantation in the setting of CMT and other progressive peripheral neurodegenerative disorders is not well established. Methods: Case report and review of the English literature. Results: A 70-year-old male with CMT was referred for evaluation of progressive asymmetric SNHL and reported a 15-year duration of deafness involving the left ear...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/29742248/pain-in-charcot-marie-tooth-disease-an-update
#8
Helen Azevedo, Camila Pupe, Rouse Pereira, Osvaldo J M Nascimento
Charcot-Marie-Tooth (CMT) disease, the most common inherited peripheral neuropathy, has pain as one of its clinical features, yet it remains underdiagnosed and undertreated. This literature review assessed data related to pain from CMT to determine its prevalence, type and importance as a symptom, which, unlike other symptoms, is likely to be treated. The research encompassed 2007 to 2017 and included five articles that addressed pain from CMT. All of the papers concurred that pain is frequently present in CMT patients, yet its classification remains undefined as there has been no consensus in the literature about the mechanisms that cause it...
April 2018: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29694336/a-role-for-the-gdap1-gene-in-the-molecular-pathogenesis-of-charcot%C3%A2-marie%C3%A2-tooth-disease
#9
Weronika Rzepnikowska, Andrzej Kochański
In 2002 a series of mutations in the GDAP1 gene were reported in patients suffering from Charcot‑Marie‑Tooth disease manifesting as early-onset, progressive distal‑muscle wasting and weakness. The molecular etiology of Charcot‑Marie‑Tooth ‑GDAP1 disease has been elucidated but its pathogenesis remains unclear, especially given the seemingly contradictory function of the GDAP1 protein. Expression of GDAP1 is observed almost exclusively in neuronal cells, however, the GDAP1 protein is present in mitochondria, where it plays a role in fission, a ubiquitous process occurring in all cells...
2018: Acta Neurobiologiae Experimentalis
https://www.readbyqxmd.com/read/29626178/unique-clinical-and-neurophysiologic-profile-of-a-cohort-of-children-with-cmtx3
#10
Manoj Kanhangad, Kayla Cornett, Megan H Brewer, Garth A Nicholson, Monique M Ryan, Robert L Smith, Gopinath M Subramanian, Helen K Young, Stephan Züchner, Marina L Kennerson, Joshua Burns, Manoj P Menezes
OBJECTIVE: To describe in detail the clinical profile of Charcot-Marie-Tooth disease subtype 3 (CMTX3) to aid appropriate genetic testing and rehabilitative therapy. METHODS: We reviewed the clinical and neurophysiologic profile and CMT Pediatric Scale (CMTPedS) assessments of 11 children with CMTX3. RESULTS: Compared with the more common forms of CMT, CMT1A and CMTX, CMTX3 was characterized by early onset with early and progressive hand weakness...
May 8, 2018: Neurology
https://www.readbyqxmd.com/read/29573232/structural-variations-causing-inherited-peripheral-neuropathies-a-paradigm-for-understanding-genomic-organization-chromatin-interactions-and-gene-dysregulation
#11
REVIEW
Anthony N Cutrupi, Megan H Brewer, Garth A Nicholson, Marina L Kennerson
Inherited peripheral neuropathies (IPNs) are a clinically and genetically heterogeneous group of diseases affecting the motor and sensory peripheral nerves. IPNs have benefited from gene discovery and genetic diagnosis using next-generation sequencing with over 80 causative genes available for testing. Despite this success, up to 50% of cases remain genetically unsolved. In the absence of protein coding mutations, noncoding DNA or structural variation (SV) mutations are a possible explanation. The most common IPN, Charcot-Marie-Tooth neuropathy type 1A (CMT1A), is caused by a 1...
May 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29521025/functional-outcome-measures-for-infantile-charcot-marie-tooth-disease-a-systematic-review
#12
Melissa R Mandarakas, Kristy J Rose, Oranee Sanmaneechai, Manoj P Menezes, Kathryn M Refshauge, Joshua Burns
A functional outcome measure for infants (aged 0-3 years) with Charcot-Marie-Tooth (CMT) disease is needed for upcoming disease-modifying trials. A systematic review of outcome measures for infants with neuromuscular disorders was completed to determine if validated measures were available for the CMT infant population. We assessed 20,375 papers and identified seven functional outcome measures for infants with neuromuscular disorders. Six were developed and validated for spinal muscular atrophy (SMA). There were no CMT-specific outcome measures identified; however, one (motor function measure) assessed a range of neuromuscular disorders including 13 infants and children with CMT...
June 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29478606/neuropathy
#13
Chiara Pisciotta, Michael E Shy
The genetic neuropathies are a clinically and genetically heterogeneous group of diseases that can broadly be classified into two groups: those in which the neuropathy is the sole or primary part of the disorder (Charcot-Marie-Tooth disease, CMT) and those in which the neuropathy is part of a more generalized neurologic or multisystem disorder (e.g., familial amyloid polyneuropathy, neuropathies associated with mitochondrial diseases, with hereditary ataxias, porphyrias). The former is the most common group, with a prevalence of 1 in 2500 people, and this chapter will concentrate on CMT...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29478438/hereditary-neuropathies
#14
Katja Eggermann, Burkhard Gess, Martin Häusler, Joachim Weis, Andreas Hahn, Ingo Kurth
BACKGROUND: Hereditary peripheral neuropathies constitute a large group of genetic diseases, with an overall prevalence of 1:2500. In recent years, the use of so-called next-generation sequencing (NGS) has led to the identification of many previously unknown involved genes and genetic defects that cause neuropathy. In this article, we review the procedures and utility of genetic evaluation for hereditary neurop - athies, while also considering the implications of the fact that causally directed treatment of these disorders is generally unavailable...
February 9, 2018: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/29417158/operative-treatment-algorithm-for-foot-deformities-in-charcot-marie-tooth-disease
#15
REVIEW
J W K Louwerens
The present article presents a short summary concerning the pathomechanisms and clinical presentation of foot deformities in Charcot-Marie-Tooth syndrome. Furthermore, a classification system is introduced and based on a recently performed review of the literature an operative treatment algorithm is provided. The operative technique of the following surgical procedures is described in more detail: 1. dorsiflexion osteotomy at the base of the 1st metatarsus, 2. dorsiflexion osteotomy at the base of a lesser metatarsal bone, 3...
April 2018: Operative Orthopädie und Traumatologie
https://www.readbyqxmd.com/read/29243538/antineoplastic-agents-exacerbating-charcot-marie-tooth-disease-red-flags-to-avoid-permanent-disability
#16
M J Ibañez-Juliá, G Berzero, G Reyes-Botero, T Maisonobe, T Lenglet, M Slim, S Louis, A Balaguer, M Sanson, E Le Guern, P Latour, D Ricard, T Stojkovic, D Psimaras
BACKGROUND: Charcot Marie Tooth (CMT) disease is the most common form of hereditary neuropathy. Due to the high prevalence of mild and undiagnosed forms, patients with CMT disease may be exposed to severe neurotoxicity following the administration of neurotoxic chemotherapies. The aim of this report is to alert oncologists to the potential to precipitate severe irreversible peripheral neuropathies when administering neurotoxic compounds to undiagnosed CMT patients. MATERIAL AND METHODS: A retrospective research in the OncoNeuroTox database was performed (2010-2016), searching for patients with the diagnosis of chemotherapy-induced peripheral neuropathy (CIPN) and CMT disease...
March 2018: Acta Oncologica
https://www.readbyqxmd.com/read/29125503/patient-preferences-for-treatments-of-neuromuscular-diseases-a-systematic-literature-review
#17
Erik Landfeldt, Josefin Edström, Peter Lindgren, Hanns Lochmüller
BACKGROUND: Treatment decisions of neuromuscular diseases involve weighing clinical benefits and risks, as well as impact on patient social life, work status, other activities of daily living, and health-related quality of life. OBJECTIVE: To conduct a systemic literature review of patient preferences for treatments of neuromuscular diseases. METHODS: We searched Embase, Web of Science, and PubMed for full-text articles reporting results from studies of patient preferences for treatments of neuromuscular diseases...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29046784/the-role-of-gene-variants-in-the-pathogenesis-of-neurodegenerative-disorders-as-revealed-by-next-generation-sequencing-studies-a-review
#18
REVIEW
Shirley Yin-Yu Pang, Kay-Cheong Teo, Jacob Shujui Hsu, Richard Shek-Kwan Chang, Miaoxin Li, Pak-Chung Sham, Shu-Leong Ho
The clinical diagnosis of neurodegenerative disorders based on phenotype is difficult in heterogeneous conditions with overlapping symptoms. It does not take into account the disease etiology or the highly variable clinical course even amongst patients diagnosed with the same disorder. The advent of next generation sequencing (NGS) has allowed for a system-wide, unbiased approach to identify all gene variants in the genome simultaneously. With the plethora of new genes being identified, genetic rather than phenotype-based classification of Mendelian diseases such as spinocerebellar ataxia (SCA), hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth disease (CMT) has become widely accepted...
2017: Translational Neurodegeneration
https://www.readbyqxmd.com/read/29029362/altered-tdp-43-dependent-splicing-in-hspb8-related-distal-hereditary-motor-neuropathy-and-myofibrillar-myopathy
#19
A Cortese, M Laurà, C Casali, I Nishino, Y K Hayashi, S Magri, F Taroni, C Stuani, P Saveri, M Moggio, M Ripolone, A Prelle, C Pisciotta, A Sagnelli, A Pichiecchio, M M Reilly, E Buratti, D Pareyson
BACKGROUND AND PURPOSE: Mutations in the small heat-shock protein 22 gene (HSPB8) have been associated with Charcot-Marie-Tooth disease type 2L, distal hereditary motor neuropathy (dHMN) type IIa and, more recently, distal myopathy/myofibrillar myopathy (MFM) with protein aggregates and TDP-43 inclusions. The aim was to report a novel family with HSPB8K141E -related dHMN/MFM and to investigate, in a patient muscle biopsy, whether the presence of protein aggregates was paralleled by altered TDP-43 function...
January 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28889642/treating-pediatric-neuromuscular-disorders-the-future-is-now
#20
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)...
April 2018: American Journal of Medical Genetics. Part A
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