keyword
MENU ▼
Read by QxMD icon Read
search

Charcot marie tooth disease

keyword
https://www.readbyqxmd.com/read/29139387/-charcot-marie-tooth-disease-principles-of-rehabilitation-physiotherapy-and-occupational-therapy
#1
Patrick Sautreuil, Delphine Delorme, Anne Baron, Michèle Mane, Besma Missaoui, Philippe Thoumie
No abstract text is available yet for this article.
November 2017: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/29136549/the-spectrum-of-charcot-marie-tooth-disease-due-to-myelin-protein-zero-an-electrodiagnostic-nerve-ultrasound-and-histological-study
#2
Gian Maria Fabrizi, Stefano Tamburin, Tiziana Cavallaro, Ilaria Cabrini, Moreno Ferrarini, Federica Taioli, Francesca Magrinelli, Giampietro Zanette
OBJECTIVE: Nerve ultrasound (US) data on myelin protein zero (MPZ)-related Charcot-Marie-Tooth disease (CMT) are lacking. To offer a comprehensive perspective on MPZ-related CMTs, we combined nerve US with clinics, electrodiagnosis and histopathology. METHODS: We recruited 36 patients (12 MPZ mutations), and correlated nerve US to clinical, electrodiagnostic measures, and sural nerve biopsy. RESULTS: According to motor nerve conduction velocity (MNCV) criteria, nine patients were categorized as "demyelinating" CMT1B, 17 as "axonal" CMT2I/J, and 10 as dominant "intermediate" CMTDID...
October 20, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29133339/decreased-ceramide-underlies-mitochondrial-dysfunction-in-charcot-marie-tooth-2f
#3
Nicholas U Schwartz, Ryan W Linzer, Jean-Philip Truman, Mikhail Gurevich, Yusuf A Hannun, Can E Senkal, Lina M Obeid
Charcot-Marie-Tooth (CMT) disease is the most commonly inherited neurologic disorder, but its molecular mechanisms remain unclear. One variant of CMT, 2F, is characterized by mutations in heat shock protein 27 (Hsp27). As bioactive sphingolipids have been implicated in neurodegenerative diseases, we sought to determine if their dysregulation is involved in CMT. Here, we show that Hsp27 knockout mice demonstrated decreases in ceramide in peripheral nerve tissue and that the disease-associated Hsp27 S135F mutant demonstrated decreases in mitochondrial ceramide...
November 13, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29130394/alterations-of-autophagy-in-the-peripheral-neuropathy-charcot-marie-tooth-type-2b
#4
David Colecchia, Mariangela Stasi, Margherita Leonardi, Fiore Manganelli, Maria Nolano, Bianca Maria Veneziani, Lucio Santoro, Eeva-Liisa Eskelinen, Mario Chiariello, Cecilia Bucci
Charcot-Marie-Tooth type 2B (CMT2B) disease is a dominant axonal peripheral neuropathy caused by 5 mutations in the RAB7A gene, a ubiquitously expressed GTPase controlling late endocytic trafficking. In neurons, RAB7A also controls neuronal-specific processes such as NTF (neurotrophin) trafficking and signaling, neurite outgrowth and neuronal migration. Given the involvement of macroautophagy/autophagy in several neurodegenerative diseases and considering that RAB7A is fundamental for autophagosome maturation, we investigated whether CMT2B-causing mutants affect the ability of this gene to regulate autophagy...
November 13, 2017: Autophagy
https://www.readbyqxmd.com/read/29127354/clinical-and-molecular-characterization-of-pmp22-point-mutations-in-taiwanese-patients-with-inherited-neuropathy
#5
Yi-Chu Liao, Pei-Chien Tsai, Thy-Sheng Lin, Cheng-Tsung Hsiao, Nai-Chen Chao, Kon-Ping Lin, Yi-Chung Lee
Point mutations in the peripheral myelin protein 22 (PMP22) gene have been identified to cause demyelinating Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsy (HNPP). To investigate the mutation spectrum of PMP22 in Han-Chinese population residing in Taiwan, 53 patients with molecularly unassigned demyelinating CMT and 52 patients with HNPP-like neuropathy of unknown genetic causes were screened for PMP22 mutations by Sanger sequencing. Three point mutations were identified in four patients with demyelinating CMT, including c...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29125503/patient-preferences-for-treatments-of%C3%A2-neuromuscular-diseases-a-systematic-literature-review
#6
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...
November 8, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29124833/a-nonstop-variant-in-reep1-causes-peripheral-neuropathy-by-unmasking-a-3-utr-encoded-aggregation-inducing-motif
#7
Andrea S Bock, Sven Günther, Julia Mohr, Lisa V Goldberg, Amir Jahic, Cornelia Klisch, Christian A Hübner, Saskia Biskup, Christian Beetz
Single nucleotide variants that abolish the stop codon ('nonstop' alterations) are a unique type of substitution in genomic DNA. Whether they confer instability of the mutant mRNA or result in expression of a C-terminally extended protein depends on the absence or presence of a downstream in-frame stop codon, respectively. Of the predicted protein extensions, only few have been functionally characterized. In a family with autosomal dominant Charcot-Marie-Tooth disease type 2, i.e. an axonopathy affecting sensory neurons as well as lower motor neurons, we identified a heterozygous nonstop variant in REEP1...
November 9, 2017: Human Mutation
https://www.readbyqxmd.com/read/29111421/substitution-impact-of-highly-conserved-arginine-residue-at-position-75-in-gjb1-gene-in-association-with-x-linked-charcot-marie-tooth-disease-a-computational-study
#8
Ashish Kumar Agrahari, Amit Kumar, Siva R, Hatem Zayed, George Priya Doss C
X-linked Charcot-Marie-Tooth type 1 X (CMTX1) disease is a subtype of Charcot-Marie-Tooth (CMT), which is mainly caused by mutations in the GJB1 gene. It is also known as connexin 32 (Cx32) that leads to Schwann cell abnormalities and peripheral neuropathy. CMTX1 is considered as the second most common form of CMT disease. The aim of this study is to computationally predict the potential impact of different single amino acid substitutions at position 75 of Cx32, from arginine (R) to proline (P), glutamine (Q) and tryptophan (W)...
October 28, 2017: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/29101144/charcot-marie-tooth-disease-in-denmark-a-nationwide-register-based-study-of-mortality-prevalence-and-incidence
#9
Signe Vaeth, Michael Vaeth, Henning Andersen, Rikke Christensen, Uffe Birk Jensen
OBJECTIVES: Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system, yet no studies have compared the mortality in patients with CMT with that of the general population, and prevalence estimates vary considerably. We performed a nationwide register-based study to investigate the prevalence, incidence and mortality of CMT in Denmark. DESIGN: We used the Danish National Patient Registry to select all records with primary diagnostic codes for CMT between 1977 and 2012 given at a neurological, neurophysiological, paediatric or clinical genetic clinic...
November 3, 2017: BMJ Open
https://www.readbyqxmd.com/read/29096547/body-composition-and-its-association-with-physical-performance-quality-of-life-and-clinical-indictors-in-charcot-marie-tooth-disease-a-pilot-study
#10
Daniel Hackett, Daniel Roberts-Clarke, Nidhi Jain, Yorgi Mavros, Guy C Wilson, Mark Halaki, Joshua Burns, Garth Nicholson, Maria Fiatarone Singh, Che Fornusek
AIM: To investigate whether the amount and distribution of lean body mass and fat mass is associated with disease severity in adults with Charcot-Marie Tooth. METHODS: Ten participants (age 46 ± 13 y, height 1.7 ± 0.1 m, and body mass 77 ± 17 kg) with Charcot-Marie Tooth disease were involved in this study. Participants were evaluated for quality of life, falls efficacy, balance, mobility, muscle strength, and power. Body composition was measured using dual energy x-ray absorptiometry...
November 2, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29095325/charcot-marie-tooth-disease-1x-simulating-paraparetic-guillain-barre-syndrome
#11
Dimitrios Parissis, Panagiotis Ioannidis, Georgios Papadopoulos, Dimitrios Karacostas
X-linked Charcot-Marie-Tooth disease (CMT 1X) is the second most common form of inherited demyelinating neuropathy. It is established that patients suffering from CMT 1X can have episodes of hemiparesis, paraparesis, quadriparesis, ataxia, aphasia, and dysarthria, which can be fully reversible, and 'trigger' factors for these episodes are usually febrile illness, high altitudes, hyperventilation, and physical activity. We describe a 22-year-old patient with a history of viral infection and sleep deprivation who presented to our department because of acute difficulty in walking and neurophysiological findings suggesting Guillain-Barre syndrome...
November 2017: Neurologist
https://www.readbyqxmd.com/read/29078790/hereditary-neuropathy-with-liability-to-pressure-palsy-hnpp-report-of-a-family-with-a-new-point-mutation-in-pmp22-gene
#12
Carlo Fusco, Carlotta Spagnoli, Grazia Gabriella Salerno, Elena Pavlidis, Daniele Frattini, Francesco Pisani
BACKGROUND: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% of patients carry a 1.5 Mb deletion of chromosome 17p11.2 involving the peripheral myelin protein 22 gene (PMP22), the same duplicated in Charcot-Marie-Tooth 1A patients. In a small proportion of patients the disease is caused by PMP22 point mutations. CASE PRESENTATION: We report on a familial case harbouring a new point mutation in the PMP22 gene...
October 27, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29077882/cx32-hemichannel-opening-by-cytosolic-ca2-is-inhibited-by-the-r220x-mutation-that-causes-charcot-marie-tooth-disease
#13
Andrea Carrer, Alessandro Leparulo, Giulia Crispino, Catalin Dacian Ciubotaru, Oriano Marin, Francesco Zonta, Mario Bortolozzi
Mutations of the GJB1 gene encoding connexin 32 (Cx32) cause the X-linked form of Charcot-Marie-Tooth disease (CMTX1), a demyelinating peripheral neuropathy for which there is no cure. A growing body of evidence indicates that ATP release through Cx32 hemichannels in Schwann cells could be critical for nerve myelination, but it is unknown if CMTX1 mutations alter the cytosolic Ca2+-dependent gating mechanism that controls Cx32 hemichannel opening and ATP release. The current study uncovered that loss of the C-terminus in Cx32 (R220X mutation), which causes a severe CMTX1 phenotype, inhibits hemichannel opening during a canonical IP3-mediated increase in cytosolic Ca2+ in HeLa cells...
October 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29074294/221st-enmc-international-workshop-foot-surgery-in-charcot-marie-tooth-disease-june-10th-12th-2016-naarden-the-netherlands
#14
Mary M Reilly, Davide Pareyson, Joshua Burns, Matilde Laurá, Michael E Shy, Dishan Singh
No abstract text is available yet for this article.
September 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29063243/characterization-of-charcot-marie-tooth-optic-neuropathy
#15
Benjamin Botsford, Laurel N Vuong, Thomas R Hedges Iii, Carlos E Mendoza-Santiesteban
Varying degrees of optic neuropathy can be seen in patients with Charcot-Marie-Tooth (CMT) disease. To define and characterize the extent of optic neuropathy in patients with CMT2A and CMT1A, two patients from both sub-classifications were evaluated. All patients underwent complete neuro-ophthalmic examinations, and optical coherence (OCT) measurements of the retinal nerve fiber layer (RNFL) and ganglion cell layer complex (GCC) were obtained, along with pattern visual evoked potential (VEP) and pattern electroretinogram (ERG) recordings...
October 23, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29053907/motor-performance-deterioration-accelerates-after-50-years-of-age-in-charcot-marie-tooth-type-1a-patients
#16
Stefano Tozza, Dario Bruzzese, Chiara Pisciotta, Rosa Iodice, Marcello Esposito, Raffaele Dubbioso, Lucia Ruggiero, Antonietta Topa, Emanuele Spina, Lucio Santoro, Fiore Manganelli
OBJECTIVE: The aim of our study was to describe, by a case-control and cross-sectional design, the correlation between clinical impairment and age in CMT1A patients. METHODS: We enrolled seventy CMT1A patients and seventy sex- and age-matched healthy controls. Motor performance was assessed through 10-Meter Walk Test, 6-Minute Walk Test and 9-Hole Peg Test (9HPT) of dominant and non-dominant side, and muscle strength was measured by using the Medical Research Council Score...
October 20, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29048431/hspb1-facilitates-erk-mediated-phosphorylation-and-degradation-of-bim-to-attenuate-endoplasmic-reticulum-stress-induced-apoptosis
#17
Donna Kennedy, Katarzyna Mnich, Deepu Oommen, Reka Chakravarthy, Leonardo Almeida-Souza, Michiel Krols, Svetlana Saveljeva, Karen Doyle, Sanjeev Gupta, Vincent Timmerman, Sophie Janssens, Adrienne M Gorman, Afshin Samali
BIM, a pro-apoptotic BH3-only protein, is a key regulator of the intrinsic (or mitochondrial) apoptosis pathway. Here, we show that BIM induction by endoplasmic reticulum (ER) stress is suppressed in rat PC12 cells overexpressing heat shock protein B1 (HSPB1 or HSP27) and that this is due to enhanced proteasomal degradation of BIM. HSPB1 and BIM form a complex that immunoprecipitates with p-ERK1/2. We found that HSPB1-mediated proteasomal degradation of BIM is dependent on MEK-ERK signaling. Other studies have shown that several missense mutations in HSPB1 cause the peripheral neuropathy, Charcot-Marie-Tooth (CMT) disease, which is associated with nerve degeneration...
August 31, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29047041/a-profound-computational-study-to-prioritize-the-disease-causing-mutations-in-prps1-gene
#18
Ashish Kumar Agrahari, P Sneha, C George Priya Doss, R Siva, Hatem Zayed
Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited congenital neurological disorders, affecting approximately 1 in 2500 in the US. About 80 genes were found to be in association with CMT. The phosphoribosyl pyrophosphate synthetase 1 (PRPS1) is an essential enzyme in the primary stage of de novo and salvage nucleotide synthesis. The mutations in the PRPS1 gene leads to X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5), PRS super activity, Arts syndrome, X-linked deafness-1, breast cancer, and colorectal cancer...
October 18, 2017: Metabolic Brain Disease
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
#19
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/29036910/melatonin-treatment-reduces-oxidative-damage-and-normalizes-plasma-pro-inflammatory-cytokines-in-patients-suffering-from-charcot-marie-tooth-neuropathy-a-pilot-study-in-three-children
#20
Mariam Chahbouni, María Del Señor López, Antonio Molina-Carballo, Tomás de Haro, Antonio Muñoz-Hoyos, Marisol Fernández-Ortiz, Ana Guerra-Librero, Darío Acuña-Castroviejo
Charcot-Marie-Tooth neuropathy (CMT) is a motor and sensory neuropathy comprising a heterogeneous group of inherited diseases. The CMT1A phenotype is predominant in the 70% of CMT patients, with nerve conduction velocity reduction and hypertrophic demyelination. These patients have elevated oxidative stress and chronic inflammation. Currently, there is no effective cure for CMT; herein, we investigated whether melatonin treatment may reduce the inflammatory and oxidative damage in CMT1A patients. Three patients, aged 8-10 years, were treated with melatonin (60 mg at 21:00 h plus 10 mg at 09:00 h), and plasma levels of lipid peroxidation (LPO), nitrites (NOx), IL-1β, IL-2, IL-6, TNF-α, INF-γ, oxidized to reduced glutathione (GSSG/GSH) ratio, and the activities of superoxide dismutase (SOD), glutathione-S transferase (GST), glutathione peroxidase (GPx), and reductase (GRd), were determined in erythrocytes at 3 and 6 months of treatment...
October 14, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
keyword
keyword
72098
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"