5,537 results match your criteria Charcot-Marie-Tooth Disease

Theophylline Induces Remyelination and Functional Recovery in a Mouse Model of Peripheral Neuropathy.

Biomedicines 2022 Jun 15;10(6). Epub 2022 Jun 15.

Department of Biomedicine, University Hospital Basel, 4031 Basel, Switzerland.

Charcot-Marie-Tooth disease (CMT) is a large group of inherited peripheral neuropathies that are primarily due to demyelination and/or axonal degeneration. CMT type 1A (CMT1A), which is caused by the duplication of the () gene, is a demyelinating and the most frequent CMT subtype. Hypermyelination, demyelination, and secondary loss of large-caliber axons are hallmarks of CMT1A, and there is currently no cure and no efficient treatment to alleviate the symptoms of the disease. Read More

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Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.

Ann Clin Transl Neurol 2022 Jun 22. Epub 2022 Jun 22.

Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.

Background: Recessive mutations in SLC12A6 have been linked to hereditary motor sensory neuropathy with agenesis of the corpus callosum. Patients with early-onset peripheral neuropathy associated with SLC12A6 heterozygous variants were reported in 2016. Only five families and three variants have been reported to date, and the spectrum is unclear. Read More

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Variants of uncertain significance in the era of next-generation sequencing.

J Am Assoc Nurse Pract 2022 Jun 22. Epub 2022 Jun 22.

Department of Medical Genetics, Medical University Varna, Varna, Bulgaria.

Abstract: Next-generation sequencing (NGS) is now widely used in diagnosing rare diseases. However, it has some limitations, such as variants of uncertain significance (VUS). This can present difficulties even for nurse practitioners involved in clinical genetics. Read More

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Clinicopathological features in two families with MARS-related Charcot-Marie-Tooth disease.

Neuropathology 2022 Jun 20. Epub 2022 Jun 20.

Department of Neurology, Peking University First Hospital, Beijing, China.

Mutations in MARS gene cause dominant Charcot-Marie-Tooth disease (CMT) 2U. The aim of this study is to investigate phenotypic heterogeneities and peripheral neuropathology of MARS-related CMT patients. We identified a heterozygous p. Read More

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Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies.

Front Cell Neurosci 2022 3;16:896854. Epub 2022 Jun 3.

INMG-Pathophysiology and Genetics of Neuron and Muscle, CNRS UMR 5261, INSERM U1315, Université Claude Bernard Lyon 1, Faculté de Médecine Lyon Est, Lyon, France.

gene encodes a protein expressed in all tissues and enriched in the brain. MORC2 protein is composed of a catalytic ATPase domain, three coil-coiled domains allowing dimerization or protein complex interaction, a zinc-finger CW domain allowing DNA interaction, and a CHROMO-like (CHRromatin Organization Modifier) domain. Recently, or dominantly inherited heterozygous mutations have been associated with a spectrum of disorders affecting the peripheral nervous system such as the Charcot-Marie-Tooth disease, spinal muscular atrophy-like phenotype disorder, or a neurodevelopmental syndrome associated with developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). Read More

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Delayed Impact of 2-Oxoadipate Dehydrogenase Inhibition on the Rat Brain Metabolism Is Linked to Protein Glutarylation.

Front Med (Lausanne) 2022 1;9:896263. Epub 2022 Jun 1.

Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia.

Background: The -encoded 2-oxoadipate dehydrogenase (OADH) oxidizes 2-oxoadipate-a common intermediate of the lysine and tryptophan catabolism. The mostly low and cell-specific flux through these pathways, and similar activities of OADH and ubiquitously expressed 2-oxoglutarate dehydrogenase (OGDH), agree with often asymptomatic phenotypes of heterozygous mutations in the gene. Nevertheless, OADH/ are linked to impaired insulin sensitivity, cardiovascular disease risks, and Charcot-Marie-Tooth neuropathy. Read More

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Aberrant Neuregulin 1/ErbB Signaling in Charcot-Marie-Tooth Type 4D Disease.

Mol Cell Biol 2022 Jun 16:e0055921. Epub 2022 Jun 16.

Department of Neurology, Tongji Hospital, School of Medicine, Tongji Universitygrid.24516.34, Shanghai, China.

Charcot-Marie-Tooth type 4D (CMT4D) is an autosomal recessive demyelinating form of CMT characterized by progressive motor and sensory neuropathy. N-myc downstream regulated gene 1 () is the causative gene for CMT4D. Although more CMT4D cases have been reported, the comprehensive molecular mechanism underlying CMT4D remains elusive. Read More

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[Clinical case of the cardiovascular system involvement in a patient with Charcot-Marie-Tooth disease].

Kardiologiia 2022 May 31;62(5):67-71. Epub 2022 May 31.

Medical Research and Educational Center, Lomonosov Moscow State University.

Hereditary motor and sensory type 1A neuropathy (known as Charcot-Marie-Tooth disease) is a disease of peripheral nerves characterized by symptoms of progressive polyneuropathy with preferential damage of distal extremity muscles. Damage to the cardiovascular system is extremely rare and heterogenous in this pathology. This disease is not included in the list of indications for interventional antiarrhythmic aid. Read More

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Charcot-Marie-Tooth Disease and Implications on Corneal Refractive Surgery.

Ophthalmol Ther 2022 Jun 11. Epub 2022 Jun 11.

Hoopes Vision Research Center, Hoopes Vision, 11820 S. State Street Suite #200, Draper, UT, 84020, USA.

Charcot-Marie-Tooth (CMT) disease is the most common inherited polyneuropathy, with a characteristic phenotype of distal muscle weakness, atrophy, and sensory loss. Variable ocular involvement has been documented in patients with CMT, with optic atrophy as the most frequently reported symptom. Although the Charcot-Marie-Tooth Association has generally deemed laser-assisted in situ keratomileuses (LASIK) a safe option for patients with CMT, reports of corneal refractive surgery are lacking in this patient population. Read More

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Charcot-Marie-Tooth disease in Africa.

J Peripher Nerv Syst 2022 06 5;27(2):98-99. Epub 2022 Apr 5.

Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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Nerve Sonography in Charcot-Marie-Tooth Disease: A Systematic Review and Meta-analysis of 6061 Measured Nerves.

Ultrasound Med Biol 2022 Jun 3. Epub 2022 Jun 3.

Department of Neurology, Rostock University, Rostock, Germany.

Because of the insidious character and variations in presenting symptoms, Charcot-Marie-Tooth (CMT) disease is challenging to diagnose in children. Diagnosis is based on clinical and nerve conduction studies, as well as genetic examination. Therefore, competent nerve imaging techniques and non-invasive alternatives to nerve conduction studies are a necessity, especially in children. Read More

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Efficient Assay and Marker Significance of NAD in Human Blood.

Front Med (Lausanne) 2022 19;9:886485. Epub 2022 May 19.

Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia.

Oxidized nicotinamide adenine dinucleotide (NAD) is a biological molecule of systemic importance. Essential role of NAD in cellular metabolism relies on the substrate action in various redox reactions and cellular signaling. This work introduces an efficient enzymatic assay of NAD content in human blood using recombinant formate dehydrogenase (FDH, EC 1. Read More

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The impact of pain and nocturnal cramps on sleep quality in Charcot Marie Tooth disease: a case-control study.

Sleep Sci 2022 Jan-Mar;15(1):41-46

Universidade Federal de Sergipe, Departament of Pharmacy - Aracaju - Sergipe - Brazil.

Introduction: Charcot-Marie-Tooth disease is an inherited neuropathy that presents two main forms - type 1 and type 2 -, differentiated by the speed of the nervous conduction. Our goal was to assess sleep in Charcot-Marie-Tooth disease and its relationship with pain perception and nocturnal cramps.

Material And Methods: This was a case-control study. Read More

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GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton.

Commun Biol 2022 06 3;5(1):541. Epub 2022 Jun 3.

Institute of Molecular Medicine, University Medical Center Mainz, Mainz, Germany.

Charcot-Marie-Tooth (CMT) disease 4A is an autosomal-recessive polyneuropathy caused by mutations of ganglioside-induced differentiation-associated protein 1 (GDAP1), a putative glutathione transferase, which affects mitochondrial shape and alters cellular Ca homeostasis. Here, we identify the underlying mechanism. We found that patient-derived motoneurons and GDAP1 knockdown SH-SY5Y cells display two phenotypes: more tubular mitochondria and a metabolism characterized by glutamine dependence and fewer cytosolic lipid droplets. Read More

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Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations.

Neuromuscul Disord 2022 May 11. Epub 2022 May 11.

Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China. Electronic address:

Autosomal recessive Charcot-Marie-Tooth disease Type 2S (AR-CMT2S) caused by IGHMBP2 mutation was first reported in 2014, and an increasing number of cases have been reported in the past eight years. We detected 15 distinct IGHMBP2 mutations among 8 typical AR-CMT2S families in our cohort of 178 Chinese CMT2 families using Sanger sequencing and next-generation sequencing (NGS), making IGHMBP2 mutations the most frequent cause of AR-CMT2 in our cohort. From 2014 to 2022, 34 AR-CMT2S families, including 45 patients and 47 different mutations, were reported. Read More

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Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants.

Case Rep Med 2022 24;2022:7492077. Epub 2022 May 24.

AdventHealth Neuroscience Institute, 1573 West Fairbanks Avenue, Suite 210 Winter Park, Orlando, FL, USA.

This study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous GDAP1 variant causing Charcot-Marie-Tooth disease 2K (CMT2K) and one additional subject with an uncertain GDAP1 variant and clinical findings of CMT 2K. The study evaluated these five subjects using clinical, laboratory, electrophysiological, and genetic testing. The findings showed that clinical features demonstrated no pes cavus, no significant weakness in the hands or feet, normal reflexes in four out of the five subjects, and mild to normal electrodiagnostic findings. Read More

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Markedly asymmetric facial nerve hypertrophy simulating a schwannoma in a patient with Charcot-Marie-Tooth disease.

Am J Otolaryngol 2022 Jul-Aug;43(4):103513. Epub 2022 May 22.

Department of Otolaryngology-Head and Neck Surgery, Mayo Clinic, Rochester, MN, United States of America. Electronic address:

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Irisin Serum Levels and Skeletal Muscle Assessment in a Cohort of Charcot-Marie-Tooth Patients.

Front Endocrinol (Lausanne) 2022 12;13:886243. Epub 2022 May 12.

Department of Emergency and Organ Transplantation, University of Bari, Bari, Italy.

Background: Charcot-Marie-Tooth (CMT) indicates a group of inherited polyneuropathies whose clinical phenotypes primarily include progressive distal weakness and muscle atrophy. Compelling evidence showed that the exercise-mimetic myokine irisin protects against muscle wasting in an autocrine manner, thus possibly preventing the onset of musculoskeletal atrophy. Therefore, we sought to determine if irisin serum levels correlate with biochemical and muscle parameters in a cohort of CMT patients. Read More

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Feasibility of simultaneous high-resolution anatomical and quantitative magnetic resonance imaging of sciatic nerves in patients with Charcot-Marie-Tooth type 1A (CMT1A) at 7T.

Muscle Nerve 2022 May 27. Epub 2022 May 27.

Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Introduction/aims: Magnetic resonance imaging (MRI) of peripheral nerves can provide image-based anatomical information and quantitative measurement. The aim of this pilot study was to investigate the feasibility of high-resolution anatomical and quantitative MRI assessment of sciatic nerve fascicles in patients with Charcot-Marie-Tooth (CMT) 1A using 7T field strength.

Methods: Six patients with CMT1A underwent imaging on a high-gradient 7T MRI scanner using a 28-channel knee coil. Read More

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The Lipid-Binding Defective Dynamin 2 Mutant in Charcot-Marie-Tooth Disease Impairs Proper Actin Bundling and Actin Organization in Glomerular Podocytes.

Front Cell Dev Biol 2022 10;10:884509. Epub 2022 May 10.

Department of Neuroscience, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan.

Dynamin is an endocytic protein that functions in vesicle formation by scission of invaginated membranes. Dynamin maintains the structure of foot processes in glomerular podocytes by directly and indirectly interacting with actin filaments. However, molecular mechanisms underlying dynamin-mediated actin regulation are largely unknown. Read More

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Blood biomarkers of peripheral neuropathy.

Acta Neurol Scand 2022 May 25. Epub 2022 May 25.

Department of Neuromuscular Disease, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, UK.

Traditionally, neurophysiology is the primary diagnostic and prognostic biomarker in peripheral neuropathy clinical practice; however, it may lack responsiveness in the context of slowly progressive neuropathies and where there is significant axonal damage. The development of ultrasensitive platforms for measuring serum proteins at the lower limit of detection of traditional ELISA techniques has transformed the field of blood biomarkers of peripheral neuropathy. A variety of blood biomarkers have been identified from inflammatory cytokines and apokines in diabetic neuropathy through to neuron-specific proteins such as neurofilament light chain, Schwann cell-specific proteins such as TMPRSS5 and microRNAs in other acquired and hereditary neuropathies. Read More

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Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.

Genes Genomics 2022 May 24. Epub 2022 May 24.

Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea.

Background: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare subtype associated with LITAF gene mutations. Until now, only a few studies have reported the clinical features of CMT1C.

Objective: This study was performed to find CMT1C patients with mutation of LITAF in a Korean CMT cohort and to characterize their clinical features. Read More

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DYNC1H1 de novo mutation, spinal muscular atrophy and attention problems.

Neurologia (Engl Ed) 2022 06 21;37(5):406-409. Epub 2022 May 21.

Departamento de Neuropediatría, Hospital Universitario Quirónsalud, Madrid, Spain; Facultad de Medicina, Universidad Europea de Madrid, Spain. Electronic address:

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Replicating and redesigning ankle-foot orthoses with 3D printing for children with Charcot-Marie-Tooth disease.

Gait Posture 2022 May 11;96:73-80. Epub 2022 May 11.

University of Sydney School of Health Sciences, Faculty of Medicine and Health & Children's Hospital at Westmead, Sydney, Australia; The Children's Hospital at Westmead, Westmead, Australia.

Background: Children with the most common inherited neuropathy, Charcot-Marie-Tooth disease (CMT), are often prescribed ankle-foot orthoses (AFOs) to improve walking ability and prevent falls by reducing foot drop, postural instability, and other gait impairments. These externally worn assistive devices are traditionally custom-made using thermoplastic vacuum forming. This labour-intensive manufacturing process often results in AFOs which are cumbersome due to limited design options, and are associated with low acceptability, discomfort, and suboptimal impact on gait. Read More

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Neurological update: hereditary neuropathies.

J Neurol 2022 May 21. Epub 2022 May 21.

Department of Neuromuscular Disease, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, WC1N 3BG, UK.

In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commonest and potentially treatable causes of hereditary motor neuropathy and CMT2. We also report on recent therapeutic advances in hereditary neuropathy including the use of lipid nanoparticle sequestered antisense oligonucleotides in CMT1A and lipid nanoparticle delivered CRISPR-Cas9 gene editing in ATTR amyloidosis. Read More

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A false-positive result at non-invasive prenatal testing due to maternal 17p12 microduplication.

Taiwan J Obstet Gynecol 2022 May;61(3):532-534

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.

Objective: We present a false-positive result at non-invasive prenatal testing (NIPT) due to maternal 17p12 microduplication.

Case Report: A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. Read More

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Disruption of Endosomal Sorting in Schwann Cells Leads to Defective Myelination and Endosomal Abnormalities Observed in Charcot-Marie-Tooth Disease.

J Neurosci 2022 Jun 19;42(25):5085-5101. Epub 2022 May 19.

Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama 35294

Endosomal sorting plays a fundamental role in directing neural development. By altering the temporal and spatial distribution of membrane receptors, endosomes regulate signaling pathways that control the differentiation and function of neural cells. Several genes linked to inherited demyelinating peripheral neuropathies, known as Charcot-Marie-Tooth (CMT) disease, encode proteins that directly interact with components of the endosomal sorting complex required for transport (ESCRT). Read More

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Original Surgical Treatment and Long-term Follow-up for Chronic Inflammatory Demyelinating Polyradiculoneuropathy Causing A Compressive Cervical Myelopathy.

Neurospine 2022 May 17. Epub 2022 May 17.

Vertebra, Polyclinique Bordeaux Nord Aquitaine, Bordeaux, France.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a chronic relapsing disease of unknown aetiology. The diagnosis of this disease is still very complicated. The treatment is medical but, in some cases, a surgical decompression might be required. Read More

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A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice.

J Clin Invest 2022 May 17. Epub 2022 May 17.

Neuroscience Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Charcot-Marie-Tooth disease type 1A (CMT1A), the most common inherited demyelinating peripheral neuropathy, is caused by PMP22 gene duplication. Over-expression of wild-type PMP22 in Schwann cells destabilizes the myelin sheath, leading to demyelination and ultimately to secondary axonal loss and disability. No treatments currently exist that modify the disease course. Read More

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Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.

BMC Neurol 2022 May 16;22(1):180. Epub 2022 May 16.

Department of Neuromuscular Disease, The Third Affiliated Hospital of Hebei Medical University, 139 Ziqiang Road, Shijiazhuang, Hebei, 050000, PR China.

Background: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases characterized by lower-limb spastic paraplegia with highly genetic and clinical heterogeneity. However, the clinical sign of spastic paraplegia can also be seen in a variety of hereditary neurologic diseases with bilateral corticospinal tract impairment. The purpose of this study is to identify the disease spectrum of spastic paraplegia, and to broaden the coverage of genetic testing and recognize clinical, laboratorial, electrophysiological and radiological characteristics to increase the positive rate of diagnosis. Read More

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