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Charcot neuropathy

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https://www.readbyqxmd.com/read/28077491/sphingosine-1-phosphate-lyase-deficiency-causes-charcot-marie-tooth-neuropathy
#1
Derek Atkinson, Jelena Nikodinovic Glumac, Bob Asselbergh, Biljana Ermanoska, David Blocquel, Regula Steiner, Alejandro Estrada-Cuzcano, Kristien Peeters, Tinne Ooms, Els De Vriendt, Xiang-Lei Yang, Thorsten Hornemann, Vedrana Milic Rasic, Albena Jordanova
OBJECTIVE: To identify the unknown genetic cause in a nuclear family with an axonal form of peripheral neuropathy and atypical disease course. METHODS: Detailed neurologic, electrophysiologic, and neuropathologic examinations of the patients were performed. Whole exome sequencing of both affected individuals was done. The effect of the identified sequence variations was investigated at cDNA and protein level in patient-derived lymphoblasts. The plasma sphingoid base profile was analyzed...
January 11, 2017: Neurology
https://www.readbyqxmd.com/read/28077174/mutant-hspb1-causes-loss-of-translational-repression-by-binding-to-pcbp1-an-rna-binding-protein-with-a-possible-role-in-neurodegenerative-disease
#2
Thomas Geuens, Vicky De Winter, Nicholas Rajan, Tilmann Achsel, Ligia Mateiu, Leonardo Almeida-Souza, Bob Asselbergh, Delphine Bouhy, Michaela Auer-Grumbach, Claudia Bagni, Vincent Timmerman
The small heat shock protein HSPB1 (Hsp27) is an ubiquitously expressed molecular chaperone able to regulate various cellular functions like actin dynamics, oxidative stress regulation and anti-apoptosis. So far disease causing mutations in HSPB1 have been associated with neurodegenerative diseases such as distal hereditary motor neuropathy, Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis. Most mutations in HSPB1 target its highly conserved α-crystallin domain, while other mutations affect the C- or N-terminal regions or its promotor...
January 11, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28076385/the-effect-of-a-novel-c-820c-t-arg274trp-mutation-in-the-mitofusin-2-gene-on-fibroblast-metabolism-and-clinical-manifestation-in-a-patient
#3
Małgorzata Beręsewicz, Anna Boratyńska-Jasińska, Łukasz Charzewski, Maria Kawalec, Dagmara Kabzińska, Andrzej Kochański, Krystiana A Krzyśko, Barbara Zabłocka
Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant axonal peripheral neuropathy caused by mutations in the mitofusin 2 gene (MFN2). Mitofusin 2 is a GTPase protein present in the outer mitochondrial membrane and responsible for regulation of mitochondrial network architecture via the fusion of mitochondria. As that fusion process is known to be strongly dependent on the GTPase activity of mitofusin 2, it is postulated that the MFN2 mutation within the GTPase domain may lead to impaired GTPase activity, and in turn to mitochondrial dysfunction...
2017: PloS One
https://www.readbyqxmd.com/read/28065847/a-drosophila-model-of-gdap1-function-reveals-the-involvement-of-insulin-signalling-in-the-mitochondria-dependent-neuromuscular-degeneration
#4
Víctor López Del Amo, Martina Palomino-Schätzlein, Marta Seco-Cervera, José Luis García-Giménez, Federico Vicente Pallardó, Antonio Pineda-Lucena, Máximo Ibo Galindo
Charcot-Marie-Tooth disease is a rare peripheral neuropathy for which there is no specific treatment. Some forms of Charcot-Marie-Tooth are due to mutations in the GDAP1 gene. A striking feature of mutations in GDAP1 is that they have a variable clinical manifestation, according to disease onset and progression, histology and mode of inheritance. Studies in cellular and animal models have revealed a role of GDAP1 in mitochondrial morphology and distribution, calcium homeostasis and oxidative stress. To get a better understanding of the disease mechanism we have generated models of over-expression and RNA interference of the Drosophila Gdap1 gene...
January 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28063088/mosaicism-for-a-pathogenic-mfn2-mutation-causes-minimal-clinical-features-of-cmt2a-in-the-parent-of-a-severely-affected-child
#5
Katherine Schon, Olivera Spasic-Boskovic, Kim Brugger, Tracey D Graves, Stephen Abbs, Soo-Mi Park, Gautam Ambegaonkar, Ruth Armstrong
Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall prevalence is 1 in 2500 individuals. Mutations in the MFN2 gene are the commonest cause for the axonal (CMT2) type. We describe a Caucasian 5-year old girl affected by CMT2A since the age of 2 years. She presented with unsteady gait, in-turning of the feet and progressive foot deformities. Nerve conduction studies suggested an axonal neuropathy and molecular testing identified a previously reported pathogenic variant c...
January 6, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28051077/fig4-variants-in-central-european-patients-with-amyotrophic-lateral-sclerosis-a-whole-exome-and-targeted-sequencing-study
#6
Alma Osmanovic, Isolde Rangnau, Anne Kosfeld, Susanne Abdulla, Claas Janssen, Bernd Auber, Peter Raab, Matthias Preller, Susanne Petri, Ruthild G Weber
We aimed to identify the genetic cause of the devastating neurodegenerative disease amyotrophic lateral sclerosis (ALS) in a German family with two affected individuals, and to assess the prevalence of variants in the identified risk gene, FIG4, in a central European ALS cohort. Whole-exome sequencing (WES) and an overlapping data analysis strategy were performed in an ALS family with autosomal dominant inheritance and incomplete penetrance. Additionally, 200 central European ALS patients were analyzed using whole-exome or targeted sequencing...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28031292/protein-kinase-ck2-modulates-hsj1-function-through-phosphorylation-of-the-uim2-domain
#7
Daniele Ottaviani, Oriano Marin, Giorgio Arrigoni, Cinzia Franchin, Jordi Vilardell, Michele Sandre, Wenwen Li, David A Parfitt, Lorenzo A Pinna, Michael E Cheetham, Maria Ruzzene
HSJ1 (DNAJB2), a member of the DNAJ family of molecular chaperones, is a key player in neuronal proteostasis maintenance. It binds ubiquitylated proteins through its Ubiquitin Interacting Motifs (UIMs) and facilitates their delivery to the proteasome for degradation. Mutations in the DNAJB2 gene lead to inherited neuropathies such as Charcot-Marie-Tooth type-2, distal hereditary motor neuropathies, spinal muscular atrophy with parkinsonism and the later stages can resemble amyotrophic lateral sclerosis. HSJ1 overexpression can reduce aggregation of neurodegeneration-associated proteins in vitro and in vivo; however, the regulation of HSJ1 function is little understood...
December 28, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28031030/outcome-after-protected-full-weightbearing-treatment-in-an-orthopedic-device-in-diabetic-neuropathic-arthropathy-charcot-arthropathy-a-comparison-of-unilaterally-and-bilaterally-affected-patients
#8
Niklas Renner, Stephan Hermann Wirth, Georg Osterhoff, Thomas Böni, Martin Berli
BACKGROUND: Charcot neuropathic arthropathy (CN) is a chronic, progressive, destructive, non-infectious process that most frequently affects the bone architecture of the foot in patients with sensory neuropathy. We evaluated the outcome of protected weightbearing treatment of CN in unilaterally and bilaterally affected patients and secondarily compared outcomes in protected versus unprotected weightbearing treatment. METHODS: Patient records and radiographs from 2002 to 2012 were retrospectively analyzed...
December 29, 2016: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28007994/axonal-neuropathy-with-neuromyotonia-there-is-a-hint
#9
Kristien Peeters, Teodora Chamova, Ivailo Tournev, Albena Jordanova
Recessive mutations in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1) were recently shown to cause a motor-predominant Charcot-Marie-Tooth neuropathy. About 80% of the patients exhibit neuromyotonia, a striking clinical and electrophysiological hallmark that can help to distinguish this disease and to guide diagnostic screening. HINT1 neuropathy has worldwide distribution and is particularly prevalent in populations inhabiting central and south-eastern Europe. With 12 different mutations identified in more than 60 families, it ranks among the most common subtypes of axonal Charcot-Marie-Tooth neuropathy...
December 21, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28005197/sbf1-mutations-associated-with-autosomal-recessive-axonal-neuropathy-with-cranial-nerve-involvement
#10
Andreea Manole, Alejandro Horga, Josep Gamez, Nuria Raguer, Maria Salvado, Beatriz San Millán, Carmen Navarro, Alan Pittmann, Mary M Reilly, Henry Houlden
Biallelic mutations in the SBF1 gene have been identified in one family with demyelinating Charcot-Marie-Tooth disease (CMT4B3) and two families with axonal neuropathy and additional neurological and skeletal features. Here we describe novel sequence variants in SBF1 (c.1168C>G and c.2209_2210del) as the potential causative mutations in two siblings with severe axonal neuropathy, hearing loss, facial weakness and bulbar features. Pathogenicity of these variants is supported by co-segregation and in silico analyses and evolutionary conservation...
December 22, 2016: Neurogenetics
https://www.readbyqxmd.com/read/27982524/a-novel-ndrg1-mutation-in-a-non-romani-patient-with-cmt4d-hmsn-lom
#11
Giuseppe Piscosquito, Stefania Magri, Paola Saveri, Micaela Milani, Claudia Ciano, Laura Farina, Franco Taroni, Davide Pareyson
Charcot-Marie-Tooth disease type 4D (CMT4D), also known as Hereditary Motor Sensory Neuropathy Lom Type (HMSNL), is an autosomal recessive, early-onset, severe demyelinating neuropathy with hearing loss, caused by NDRG1 mutations. CMT4D is rare with only three known mutations, one of which (p.Arg148Ter) is found in patients of Romani ancestry and accounts for the vast majority of cases. We report a 38-year-old Italian female with motor development delay, progressive neuropathy and sensorineural deafness. MRI showed slight atrophy of cerebellum, medulla oblongata and upper cervical spinal cord...
December 16, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27957719/development-of-improved-hdac6-inhibitors-as-pharmacological-therapy-for-axonal-charcot-marie-tooth-disease
#12
Veronick Benoy, Pieter Vanden Berghe, Matthew Jarpe, Philip Van Damme, Wim Robberecht, Ludo Van Den Bosch
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy, with an estimated prevalence of 1 in 2500. The degeneration of motor and sensory nerve axons leads to motor and sensory symptoms that progress over time and have an important impact on the daily life of these patients. Currently, there is no curative treatment available. Recently, we identified histone deacetylase 6 (HDAC6), which deacetylates α-tubulin, as a potential therapeutic target in axonal CMT (CMT2). Pharmacological inhibition of the deacetylating function of HDAC6 reversed the motor and sensory deficits in a mouse model for mutant "small heat shock protein B1" (HSPB1)-induced CMT2 at the behavioral and electrophysiological level...
December 12, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/27940147/quantitative-muscle-ultrasound-as-a-biomarker-in-charcot-marie-tooth-neuropathy
#13
N Shahrizaila, Y Noto, N G Simon, W Huynh, K Shibuya, J M Matamala, T Dharmadasa, E Devenney, M L Kennerson, G A Nicholson, M C Kiernan
OBJECTIVE: The utility of quantitative muscle ultrasound as a marker of disease severity in Charcot-Marie-Tooth (CMT) disease subtypes was investigated. METHODS: Muscle ultrasound was prospectively performed on 252 individual muscles from 21 CMT patients (9 CMT1A, 8 CMTX1, 4 CMT2A) and compared to 120 muscles from 10 age and gender-matched controls. Muscle ultrasound recorded echogenicity and thickness in representative muscles including first dorsal interosseus (FDI) and tibialis anterior (TA)...
January 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/27927941/a-population-based-epidemiologic-study-of-adult-neuromuscular-disease-in-the-republic-of-ireland
#14
Stela Lefter, Orla Hardiman, Aisling M Ryan
OBJECTIVE: To estimate the prevalence rates (PRs) of acquired and inherited neuromuscular diseases (NMD) in the adult Irish population, reflecting the burden of these conditions in a single country. METHODS: This population-based study was performed in the Republic of Ireland (RoI), with a PR estimated for December 2013. Multiple case ascertainment sources were utilized. Demographic and clinical information and relevant diagnostic results were registered. RESULTS: A total of 2,641 adults were identified, giving a PR of 62...
December 7, 2016: Neurology
https://www.readbyqxmd.com/read/27927196/the-topology-structure-and-pe-interaction-of-litaf-underpin-a-charcot-marie-tooth-disease-type-1c
#15
Anita K Ho, Jane L Wagstaff, Paul T Manna, Lena Wartosch, Seema Qamar, Elspeth F Garman, Stefan M V Freund, Rhys C Roberts
BACKGROUND: Mutations in Lipopolysaccharide-induced tumour necrosis factor-α factor (LITAF) cause the autosomal dominant inherited peripheral neuropathy, Charcot-Marie-Tooth disease type 1C (CMT1C). LITAF encodes a 17 kDa protein containing an N-terminal proline-rich region followed by an evolutionarily-conserved C-terminal 'LITAF domain', which contains all reported CMT1C-associated pathogenic mutations. RESULTS: Here, we report the first structural characterisation of LITAF using biochemical, cell biological, biophysical and NMR spectroscopic approaches...
December 7, 2016: BMC Biology
https://www.readbyqxmd.com/read/27908631/confirmation-of-the-gnb4-gene-as-causal-for-charcot-marie-tooth-disease-by-a-novel-de-novo-mutation-in-a-czech-patient
#16
Laššuthová Petra, Šafka Brožková Dana, Neupauerová Jana, Krůtová Marcela, Mazanec Radim, Seeman Pavel
The association of GNB4 with Charcot-Marie-Tooth (CMT) has recently been described in a publication by Soong et al. (Soong, et al., 2013). Here we present a patient with CMT in whom whole exome sequencing identified the mutation p.Lys57Glu in the GNB4 gene (NM_021629.3:c.169A>G). The patient, now 41 years old, is a sporadic case in the family. At the age of 35 he presented with severe disability (CMT neuropathy score 29), profound muscle atrophies, pes cavus and scoliosis. Previously, the patient was tested for PMP22 duplications/deletions and later also with 64 CMT gene panel, with no causal variant found...
September 22, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27907123/mice-hemizygous-for-a-pathogenic-mitofusin-2-allele-exhibit-hind-limb-foot-gait-deficits-and-phenotypic-perturbations-in-nerve-and-muscle
#17
Peter Bannerman, Travis Burns, Jie Xu, Laird Miers, David Pleasure
Charcot-Marie-Tooth disease type 2A (CMT2A), the most common axonal form of hereditary sensory motor neuropathy, is caused by mutations of mitofusin-2 (MFN2). Mitofusin-2 is a GTPase required for fusion of mitochondrial outer membranes, repair of damaged mitochondria, efficient mitochondrial energetics, regulation of mitochondrial-endoplasmic reticulum calcium coupling and axonal transport of mitochondria. We knocked T105M MFN2 preceded by a loxP-flanked STOP sequence into the mouse Rosa26 locus to permit cell type-specific expression of this pathogenic allele...
2016: PloS One
https://www.readbyqxmd.com/read/27871408/the-biology-of-bone-and-ligament-healing
#18
REVIEW
Jessica A Cottrell, Jessica Cardenas Turner, Treena Livingston Arinzeh, J Patrick O'Connor
This review describes the normal healing process for bone, ligaments, and tendons, including primary and secondary healing as well as bone-to-bone fusion. It depicts the important mediators and cell types involved in the inflammatory, reparative, and remodeling stages of each healing process. It also describes the main challenges for clinicians when trying to repair bone, ligaments, and tendons with a specific emphasis on Charcot neuropathy, fifth metatarsal fractures, arthrodesis, and tendon sheath and adhesions...
December 2016: Foot and Ankle Clinics
https://www.readbyqxmd.com/read/27866730/hereditary-neuropathies-an-update
#19
REVIEW
T Stojkovic
Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and with the advances of the latest generation sequencing, more than 80 genes have been identified. Although the common clinical phenotype comprises a progressive distal muscle weakness and sensory loss, foot deformities and decreased or absent tendon reflexes, clinical and electrophysiological phenotypes exhibit great variability...
December 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27865316/soft-tissue-reconstruction-pyramid-for-the-diabetic-charcot-foot
#20
REVIEW
Claire M Capobianco, Thomas Zgonis
Foot and ankle ulcerations in patients with diabetic Charcot neuroarthropathy (DCN) occur frequently and can be challenging to address surgically when conservative care fails. Patients with acute or chronic diabetic foot ulcers (DFU) are at continued risk for development of osteomyelitis, septic arthritis, gas gangrene, and potential lower extremity amputation. Concurrent vasculopathy and peripheral neuropathy as well as uncontrolled medical comorbidities complicate the treatment approach. In addition, pathomechanical forces left untreated may contribute to DFU recurrence in this patient population...
January 2017: Clinics in Podiatric Medicine and Surgery
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