keyword
https://read.qxmd.com/read/38513194/expanding-the-clinical-spectrum-of-drp2-associated-charcot-marie-tooth-disease
#1
JOURNAL ARTICLE
Rafael Sivera, Ana L Pelayo-Negro, Ivonne Jericó, Cristina Domínguez-González, Alejandro Horga, Francisco J Rodriguez De Rivera, Elena Gallardo, Jose Ignacio Tembl, Laura Bermejo-Guerrero, Maria Inmaculada Pagola Lorz, Inmaculada Azorín, Marta Cordoba, María Del Mar Fenollar-Cortés, Elvira Millet, Juan J Vilchez, Carmen Espinós, María Apellániz-Ruiz, Teresa Sevilla
BACKGROUND AND OBJECTIVES: Germline truncating variants in the DRP2 gene (encoding dystrophin-related protein 2) cause the disruption of the periaxin-DRP2-dystroglycan complex and have been linked to Charcot-Marie-Tooth disease. However, the causality and the underlying phenotype of the genetic alterations are not clearly defined. METHODS: This cross-sectional retrospective observational study includes 9 patients with Charcot-Marie-Tooth disease (CMT) with DRP2 germline variants evaluated at 6 centers throughout Spain...
April 9, 2024: Neurology
https://read.qxmd.com/read/38496429/a-novel-variant-in-the-gne-gene-in-a-malian-patient-presenting-with-distal-myopathy
#2
Mahamadou Kotioumbe, Alassane B Maiga, Salia Bamba, Lassana Cissé, Salimata Diarra, Salimata Diallo, Abdoulaye Yalcouyé, Fousseyni Kané, Seybou H Diallo, Dramane Coulibaly, Thomas Coulibaly, Kékouta Dembélé, Boubacar Maiga, Cheick O Guinto, Guida Landouré
Background: GNE myopathy (GM) is a rare autosomal recessive disorder caused by variants in the GNE gene and characterized by progressive distal muscle weakness and atrophy. We report a novel variant in the GNE gene causing GM in a consanguineous Malian family. Case presentation: A 19-year-old male patient from a consanguineous family of Bambara ethnicity was seen for progressive walking difficulty and frequent falls. Neurological examination found distalmuscle weakness and atrophy and reduced tendon reflexes in four limbs...
March 7, 2024: Research Square
https://read.qxmd.com/read/38495304/dominant-nars1-mutations-causing-axonal-charcot-marie-tooth-disease-expand-nars1-associated-diseases
#3
JOURNAL ARTICLE
Danique Beijer, Sheila Marte, Jiaxin C Li, Willem De Ridder, Jessie Z Chen, Abigail L D Tadenev, Kathy E Miers, Tine Deconinck, Richard Macdonell, Wilson Marques, Peter De Jonghe, Samia L Pratt, Rebecca Meyer-Schuman, Stephan Züchner, Anthony Antonellis, Robert W Burgess, Jonathan Baets
Pathogenic variants in six aminoacyl-tRNA synthetase (ARS) genes are implicated in neurological disorders, most notably inherited peripheral neuropathies. ARSs are enzymes that charge tRNA molecules with cognate amino acids. Pathogenic variants in asparaginyl-tRNA synthetase ( NARS1 ) cause a neurological phenotype combining developmental delay, ataxia and demyelinating peripheral neuropathy. NARS1 has not yet been linked to axonal Charcot-Marie-Tooth disease. Exome sequencing of patients with inherited peripheral neuropathies revealed three previously unreported heterozygous NARS1 variants in three families...
2024: Brain communications
https://read.qxmd.com/read/38481354/whole-genome-sequencing-increases-the-diagnostic-rate-in-charcot-marie-tooth-disease
#4
JOURNAL ARTICLE
Christopher J Record, Menelaos Pipis, Mariola Skorupinska, Julian Blake, Roy Poh, James M Polke, Kelly Eggleton, Tina Nanji, Stephan Zuchner, Andrea Cortese, Henry Houlden, Alexander M Rossor, Matilde Laura, Mary M Reilly
Charcot-Marie-Tooth disease (CMT) is one of the most common and genetically heterogeneous inherited neurological diseases, with more than 130 disease-causing genes. Whole genome sequencing (WGS) has improved diagnosis across genetic diseases, but the diagnostic impact in CMT is yet to be fully reported. We present the diagnostic results from a single specialist inherited neuropathy centre, including the impact of WGS diagnostic testing. Patients were assessed at our specialist inherited neuropathy centre from 2009-2023...
March 14, 2024: Brain
https://read.qxmd.com/read/38481313/large-scale-causal-analysis-of-gut-microbiota-and-six-common-complications-of-diabetes-a-mendelian-randomization-study
#5
JOURNAL ARTICLE
Jiachen Wang, Menghao Teng, Ruoyang Feng, Xiaochen Su, Ke Xu, Junxiang Wang, Guoqiang Wang, Yulong Zhang, Peng Xu
BACKGROUND: This study aimed to reveal the association between the gut microbiota (GM) and six diabetic complications: diabetic hypoglycemia; ketoacidosis; nephropathy; neuropathy; retinopathy; and Charcot's foot. METHODS: GM data were obtained from the MiBioGen consortium and Dutch Microbiome Project while data on the six diabetic complications were obtained from the FinnGen consortium. Two-sample Mendelian randomization (TSMR) was performed to explore the association between GM and the common diabetic complications...
March 13, 2024: Diabetology & Metabolic Syndrome
https://read.qxmd.com/read/38472136/testing-sipa1l2-as-a-modifier-of-cmt1a-using-mouse-models
#6
JOURNAL ARTICLE
George C Murray, Timothy J Hines, Abigail L D Tadenev, Isaac Xu, Stephan Züchner, Robert W Burgess
Charcot-Marie-Tooth disease type 1A (CMT1A) is a demyelinating peripheral neuropathy caused by the duplication of peripheral myelin protein 22 (PMP22), leading to muscle weakness and loss of sensation in the hands and feet. A recent case-only genome-wide association study of CMT1A patients conducted by the Inherited Neuropathy Consortium identified a strong association between strength of foot dorsiflexion and variants in signal induced proliferation associated 1 like 2 (SIPA1L2), indicating that it may be a genetic modifier of disease...
March 12, 2024: Journal of Neuropathology and Experimental Neurology
https://read.qxmd.com/read/38459834/alternative-splicing-expands-the-clinical-spectrum-of-ndufs6-related-mitochondrial-disorders
#7
JOURNAL ARTICLE
Camila Armirola-Ricaurte, Noortje Zonnekein, Georgios Koutsis, Silvia Amor-Barris, Ana Lara Pelayo-Negro, Derek Atkinson, Stephanie Efthymiou, Valentina Turchetti, Argyris Dinopoulos, Antonio Garcia, Mert Karakaya, German Moris, Ayşe Ipek Polat, Uluc Yis, Carmen Espinos, Liedewei Van de Vondel, Els De Vriendt, Georgia Karadima, Brunhilde Wirth, Michael Hanna, Henry Houlden, Jose Berciano, Albena Jordanova
PURPOSE: We describe three families with Charcot-Marie-Tooth neuropathy (CMT), harboring a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant previously linked to fatal Leigh syndrome. We aimed to characterize clinically and molecularly the newly identified patients and understand the mechanism underlying their milder phenotype. METHODS: The patients underwent extensive clinical examinations. Exome sequencing was done in four affected individuals. The functional effect of the c...
March 5, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38445790/development-of-a-functional-outcome-measure-for-riboflavin-transporter-deficiency
#8
JOURNAL ARTICLE
Jack R Fennessy, Gabrielle A Donlevy, Marnee J McKay, Joshua Burns, Kayla M D Cornett, Manoj P Menezes
BACKGROUND AND AIMS: Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised clinically by pontobulbar palsy, sensory ataxia, sensorineural deafness, muscle weakness, optic atrophy and respiratory failure. A robust and responsive functional outcome measure is essential for future clinical trials of disease-modifying therapies including genetic therapies. The Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) is a well-validated outcome measure for CMT and related neuropathies, and might have utility for measuring disease progression in individuals with RTD...
March 6, 2024: Journal of the Peripheral Nervous System: JPNS
https://read.qxmd.com/read/38445149/diabetic-foot-complications-in-saudi-arabia-a-retrospective-study
#9
JOURNAL ARTICLE
Sherif M Zaki, Dina S El Karsh, Tuleen M Faden, Leen T Almghamsi, Joud O Fathaldin, Omar A Alhazmi
REVIEW: A common chronic health problem among Saudi Arabians is diabetes mellitus (DM). One of the most serious complications of diabetes is diabetic foot (DMF). AIM: The objective of this study was to identify the most common complications that develop among patients with DMF. In addition, we conducted a demographic analysis of chronic diabetic complications related to DMF. MATERIAL AND METHODS: The study involved 100 DMF attending the Jeddah clinic of Dr Soliman Fakeeh Hospital...
February 2024: Curēus
https://read.qxmd.com/read/38441936/late-onset-of-severe-demyelinating-peripheral-neuropathy-in-a-62-year-old-african-american-woman
#10
JOURNAL ARTICLE
Sasha A Zivkovic, Daniel DiCapua
Hereditary neuropathies are typically associated with an early onset of symptoms, but same types of neuropathies may also manifest late, after the age 50 years. A 62-year-old African American woman presented with a 6-year history of gait unsteadiness and has been using a walker since the age 57 years after an unwitnessed fall. Gradual worsening of walking difficulties was later followed by decreased dexterity. The family history was negative for neuromuscular disorders, including neuropathy. On examination, the patient had both distal and proximal weakness with distal sensory loss to all modalities and hyporeflexia...
March 1, 2024: Journal of Clinical Neuromuscular Disease
https://read.qxmd.com/read/38431252/clinical-practice-guidelines-for-the-diagnosis-and-management-of-charcot-marie-tooth-disease
#11
R Sivera Mascaró, T García Sobrino, A Horga Hernández, A L Pelayo Negro, A Alonso Jiménez, A Antelo Pose, M D Calabria Gallego, C Casasnovas, C A Cemillán Fernández, J Esteban Pérez, M Fenollar Cortés, M Frasquet Carrera, M P Gallano Petit, A Giménez Muñoz, G Gutiérrez Gutiérrez, A Gutiérrez Martínez, R Juntas Morales, N L Ciano-Petersen, P L Martínez Ulloa, S Mederer Hengstl, E Millet Sancho, F J Navacerrada Barrero, F E Navarrete Faubel, J Pardo Fernández, S I Pascual Pascual, J Pérez Lucas, J Pino Mínguez, M Rabasa Pérez, M Sánchez González, J Sotoca, B Rodríguez Santiago, R Rojas García, J Turon-Sans, V Vicent Carsí, T Sevilla Mantecón
INTRODUCTION: Charcot-Marie-Tooth (CMT) disease is classified considering the neurophysiological and histological findings, the inheritance pattern and the underlying genetic defect. In recent years, with the advent of next generation sequencing, genetic complexity has increased exponentially, expanding the knowledge about disease pathways, and having an impact in clinical management. The aim of this guide is to offer recommendations for the diagnosis, prognosis, monitoring and treatment of this disease in Spain...
February 29, 2024: Neurología
https://read.qxmd.com/read/38428336/early-onset-inherited-peripheral-neuropathies-the-experience-of-a-specialized-referral-center-for-genetic-diagnosis-achievement
#12
JOURNAL ARTICLE
Alessandro Geroldi, Clarissa Ponti, Alessia Mammi, Serena Patrone, Fabio Gotta, Lucia Trevisan, Francesca Sanguineri, Paola Origone, Andrea Gaudio, Andrea La Barbera, Matteo Cataldi, Chiara Gemelli, Sara Massucco, Angelo Schenone, Paola Lanteri, Chiara Fiorillo, Marina Grandis, Paola Mandich, Emilia Bellone
BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral neuropathies. Although the typical disease onset is reported in the second decade, earlier onsets are not uncommon. To date, few studies on pediatric populations have been conducted and the achievement of molecular diagnosis remains challenging. METHODS: During the last 24 years we recruited 223 patients with early-onset hereditary peripheral neuropathies (EOHPN), negative for PMP22 duplication, 72 of them referred by a specialized pediatric hospital...
February 10, 2024: Pediatric Neurology
https://read.qxmd.com/read/38414376/what-is-new-on-diabetic-neuropathy-insights-from-the-2023-ada-and-easd-conferences
#13
REVIEW
Eleni Rebelos, Ioanna A Anastasiou, Anastasios Tentolouris, Nikolaos Papanas, Edward Jude
Diabetic neuropathy is a common complication of diabetes; yet its pathophysiology is still incompletely understood and until today, there is no specific treatment against it. In the two 2023 large congresses on diabetes (American Diabetes Association, ADA, European Association for the Study of Diabetes, EASD), several high-level studies have been presented. They have attempted to delineate the pathophysiology of DN, the characteristics of affected patients, and future potential treatments. We herein review the presented studies on diabetic neuropathy at these diabetes congresses and discuss the needs for future research on this topic...
February 28, 2024: International Journal of Lower Extremity Wounds
https://read.qxmd.com/read/38409938/intermediate-conduction-velocity-in-two-cases-of-charcot-marie-tooth-disease-type-1a
#14
Pedro José Tomaselli, Julian Blake, James M Polke, Osvaldo José Moreira do Nascimento, Mary M Reilly, Wilson Marques Júnior, Matilde Laurá
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most prevalent hereditary neuropathy worldwide and classically has slow nerve conduction velocity (NCV), in most cases below 38 m/s. Two unrelated patients with motor NCVs in the upper limbs above 38 m/s are reported. METHOD: Case report. RESULTS: Two genetically confirmed CMT1A patients are presented, from two unrelated families (one of British origin and the other of Brazilian origin)...
February 26, 2024: European Journal of Neurology
https://read.qxmd.com/read/38383802/targeting-pi3k-akt-mtor-signaling-in-rodent-models-of-pmp22-gene-dosage-diseases
#15
JOURNAL ARTICLE
Doris Krauter, Daniela Stausberg, Timon J Hartmann, Stefan Volkmann, Theresa Kungl, David A Rasche, Gesine Saher, Robert Fledrich, Ruth M Stassart, Klaus-Armin Nave, Sandra Goebbels, David Ewers, Michael W Sereda
Haplo-insufficiency of the gene encoding the myelin protein PMP22 leads to focal myelin overgrowth in the peripheral nervous system and hereditary neuropathy with liability to pressure palsies (HNPP). Conversely, duplication of PMP22 causes Charcot-Marie-Tooth disease type 1A (CMT1A), characterized by hypomyelination of medium to large caliber axons. The molecular mechanisms of abnormal myelin growth regulation by PMP22 have remained obscure. Here, we show in rodent models of HNPP and CMT1A that the PI3K/Akt/mTOR-pathway inhibiting phosphatase PTEN is correlated in abundance with PMP22 in peripheral nerves, without evidence for direct protein interactions...
February 21, 2024: EMBO Molecular Medicine
https://read.qxmd.com/read/38375759/genetic-diversity-in-hereditary-axonal-neuropathy-analyzing-53-brazilian-children
#16
JOURNAL ARTICLE
Fernanda Barbosa Figueiredo, Pedro José Tomaselli, Jaime Hallak, Ana Cláudia Mattiello-Sverzut, Anna Paula Paranhos Miranda Covaleski, Cláudia Ferreira da Rosa Sobreira, Silmara de Paula Gouvêa, Wilson Marques
BACKGROUND AND AIMS: The genetic epidemiology of inherited neuropathies in children remains largely unknown. In this study, we specifically investigated the genetic profile of a Brazilian cohort of pediatric patients with pure or complex axonal neuropathies, a crucial knowledge in the near future for establishing treatment priorities and perspectives for this group of patients. METHODS: Fifty-three pediatric patients who were assessed prior to reaching the age of 20, and who had clinical diagnoses of axonal hereditary neuropathy or presented with axonal neuropathy as the primary clinical feature, were included in the study...
February 20, 2024: Journal of the Peripheral Nervous System: JPNS
https://read.qxmd.com/read/38361273/cochlear-implantation-in-charcot-marie-tooth-patients-speech-perception-and-quality-of-life
#17
JOURNAL ARTICLE
Nicole I Farber, Oliver Y Chin, Dawna M Mills, Rodney C Diaz, Hilary A Brodie, Doron Sagiv
OBJECTIVES: There is a limited understanding of the impact of cochlear implantation (CI) in patients with Charcot-Marie-Tooth disease (CMT), given the scarcity of reported cases. We aim to evaluate the audiological outcomes and quality of life (QoL) after CI in CMT. METHODS: Multi-institutional, university-affiliated, tertiary-referral centers, retrospective chart review.Our cohort includes 5 patients with CMT. Patients' charts were reviewed for demographic characteristics, operation notes, and pre- and post-implantation audiology evaluation...
February 15, 2024: Annals of Otology, Rhinology, and Laryngology
https://read.qxmd.com/read/38357620/recurrent-third-nerve-paresis-with-migraine-a-case-report-and-review-of-the-literature
#18
Sujit Kumar, Sharath Kumar Goddu Govindappa, Abdul Rawoof Bolar, Chaitra Parameshwara Adiga, Ravi Mohan Rao Basrur, Manithody Narayan Bhat Pramod, Santosh Kumar Pendyala, Jagadish Basavaraj Agadi, Rohit Shetty
Ophthalmoplegic migraine (OM), first described by Charcot in 1870, is a disorder characterised by recurrent episodes of migraine associated with ophthalmoplegia. It has been extensively described in children and is rarer in adults. Commonly, the third nerve is affected with pupillary involvement and, more rarely, the fourth or the sixth nerve. OM is now believed to be an inflammatory demyelinating neuropathy. However, in the largest series of OM so far, by Lal et al. it most commonly involved the sixth nerve, started with a crescendo migraine and was accompanied by no enhancement of the cranial nerves...
2024: Neuro-ophthalmology
https://read.qxmd.com/read/38352425/activation-of-xbp1s-attenuates-disease-severity-in-models-of-proteotoxic-charcot-marie-tooth-type-1b
#19
Thierry Touvier, Francesca A Veneri, Anke Claessens, Cinzia Ferri, Rosa Mastrangelo, Noémie Sorgiati, Francesca Bianchi, Serena Valenzano, Ubaldo Del Carro, Cristina Rivellini, Phu Duong, Michael E Shy, Jeffery W Kelly, John Svaren, R Luke Wiseman, Maurizio D'Antonio
Mutations in myelin protein zero (MPZ) are generally associated with Charcot-Marie-Tooth type 1B (CMT1B) disease, one of the most common forms of demyelinating neuropathy. Pathogenesis of some MPZ mutants, such as S63del and R98C, involves the misfolding and retention of MPZ in the endoplasmic reticulum (ER) of myelinating Schwann cells. To cope with proteotoxic ER-stress, Schwann cells mount an unfolded protein response (UPR) characterized by activation of the PERK, ATF6 and IRE1α/XBP1 pathways. Previous results showed that targeting the PERK UPR pathway mitigates neuropathy in mouse models of CMT1B; however, the contributions of other UPR pathways in disease pathogenesis remains poorly understood...
February 2, 2024: bioRxiv
https://read.qxmd.com/read/38344975/charcot-neuroarthropathy-is-associated-with-higher-rates-of-phantom-limb-after-lower-extremity-amputation
#20
JOURNAL ARTICLE
Hannah H Nam, Brandon J Martinazzi, F Jeffrey Lorenz, Gregory J Kirchner, Vincenzo Bonaddio, Adeshina Adeyemo, Kempland C Walley, Michael C Aynardi
BACKGROUND: The incidence of phantom limb pain in patients with Charcot neuroarthropathy who undergo major amputation is not well described. The purpose of this study was to determine whether patients with Charcot neuroarthropathy and diabetes who underwent either a below-knee amputation (BKA) or above-knee amputation (AKA) had an increased rate of phantom limb pain compared with those with a diagnosis of diabetes alone. METHODS: Using international classification of disease (ICD) and common procedural terminology (CPT) codes, the TriNetX research database identified 10 239 patients who underwent BKA and 6122 who underwent AKA between 2012 and 2022...
February 12, 2024: Foot & Ankle Specialist
keyword
keyword
93479
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

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"

We want to hear from doctors like you!

Take a second to answer a survey question.