Search Our Scientific Publications & Authors

J Neurol Neurosurg Psychiatry 2018 Dec 5. Epub 2018 Dec 5.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.

Int J Mol Sci 2018 Nov 29;19(12). Epub 2018 Nov 29.

C2VN, AIX Marseille Université, INRA 1260-INSERM 1263, 13007 Marseille, France.

Peripheral neuropathies are subdivided into acquired and hereditary transmitted disorders. [.. Read More

Foot Ankle Surg 2018 Nov 15. Epub 2018 Nov 15.

Pediatric Orthopedic Department, Necker Enfants Malades Hospital, Assistance Publique - Hôpitaux de Paris, Paris Descartes University, 149 Rue de Sevres, 75015 Paris, France; Pediatric Orthopedic Department, Saint Vincent de Paul Hospital, Assistance Publique - Hôpitaux de Paris, Paris Descartes University, 74 Avenue Denfert-Rochereau, 75015 Paris, France.

Background: Various techniques have been proposed for the treatment of cavovarus feet (CVF). The aim of this study was to report outcomes of the revisited Meary's dorsal closing wedge tarsectomy for fixed CVF secondary to Charcot-Marie-Tooth (CMT) disease.

Methods: All CVF operated on between 1977 and 2011 were included. Read More

Handb Clin Neurol 2018 ;159:403-415

Faculty of Health, Social Care and Education, Kingston University and Queen Square MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom. Electronic address:

Polyneuropathies are common neurologic disorders affecting the peripheral nerves. There are a number of causes of damage to these structures, such as genetic and metabolic factors, autoimmune disorders, infection, drug or environmental toxicity, and malignancy. Motor and sensory impairments are commonly encountered in these conditions, leading to altered balance and gait with increased risk of falling. Read More

Hum Mol Genet 2018 Nov 27. Epub 2018 Nov 27.

DIBIT, Divisions of Genetics and Cell Biology.

Charcot-Marie-Tooth neuropathies (CMTs) are a group of genetic disorders that affect the peripheral nervous system (PNS) with heterogeneous pathogenesis and no available treatment. Axonal Neuregulin 1 type III (Nrg1TIII) drives peripheral nerve myelination by activating downstream signaling pathways such as PI3K/Akt and MAPK/Erk that converge on master transcriptional regulators of myelin genes, such as Krox20. We reasoned that modulating Nrg1TIII activity may constitute a general therapeutic strategy to treat CMTs that are characterized by reduced levels of myelination. Read More

J Sports Sci Med 2018 Dec 20;17(4):557-562. Epub 2018 Nov 20.

Sports Research Centre, Miguel Hernandez University, Elche, Spain.

The purpose of this study was to analyze heart rate variability (HRV) oscillations before and after a marathon which involved trans-meridian air travel and substantial time zone differences in a professional wheelchair athlete with Charcot-Marie-Tooth (CMT) disease. The natural logarithm of the root mean square difference between adjacent normal R-R intervals (Ln rMSSD) was measured daily on the days before, including and following the race. Relative to baseline, small (-3. Read More

Brain 2018 Dec;141(12):3319-3330

Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Many genetic subtypes of Charcot-Marie-Tooth disease (CMT) show signs of symptomatic disease during the earliest years of life. This might be the ideal time to intervene before progression of clinical sequelae due to demyelination and axonal loss. In the absence of disease-specific clinical trial outcome measures for CMT during infancy and early childhood the aim of this study was to develop and validate a functional measure of disease severity, known as the Charcot-Marie-Tooth disease Infant Scale (CMTInfS). Read More

Sci Rep 2018 Nov 15;8(1):16900. Epub 2018 Nov 15.

Molecular Biology Unit, Mossakowski Medical Research Centre, PAS, 02-106, Warsaw, 5 Pawińskiego St, Poland.

Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant neuropathy caused by mutations in the mitofusin 2 gene (MFN2). More than 100 MFN2 gene mutations have been reported so far, with majority located within the GTPase domain encoding region. These domain-specific mutations present wide range of symptoms with differences associated with distinct amino acid substitutions in the same position. Read More

Neurotherapeutics 2018 Oct;15(4):966-975

Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.

Dynamin 2 (DNM2) belongs to a family of large GTPases that are well known for mediating membrane fission by oligomerizing at the neck of membrane invaginations. Autosomal dominant mutations in the ubiquitously expressed DNM2 cause 2 discrete neuromuscular diseases: autosomal dominant centronuclear myopathy (ADCNM) and dominant intermediate Charcot-Marie-Tooth neuropathy (CMT). CNM and CMT mutations may affect DNM2 in distinct manners: CNM mutations may cause protein hyperactivity with elevated GTPase and fission activities, while CMT mutations could impair DNM2 lipid binding and activity. Read More

ASN Neuro 2018 Jan-Dec;10:1759091418803282

1 Department of Neurology, Jungers Center for Neurosciences Research, Oregon Health & Science University, Portland, OR, USA.

Charcot-Marie-Tooth Disorder Type 4B (CMT4B) is a demyelinating peripheral neuropathy caused by mutations in myotubularin-related (MTMR) proteins 2, 13, or 5 (CMT4B1/2/3), which regulate phosphoinositide turnover and endosomal trafficking. Although mouse models of CMT4B2 exist, an in vitro model would make possible pharmacological and reverse genetic experiments needed to clarify the role of MTMR13 in myelination. We have generated such a model using Schwann cell-dorsal root ganglion (SC-DRG) explants from Mtmr13 mice. Read More

J Med Genet 2018 Dec 10;55(12):814-823. Epub 2018 Nov 10.

Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.

Background: Mutations in the metalloendopeptidase () gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in were linked to other late-onset autosomal dominant polyneuropathies. Thus, our goal was to define the phenotype and mode of inheritance of patients carrying changes in . Read More

Neuromuscul Disord 2018 Oct 5. Epub 2018 Oct 5.

University Hospital of North Midlands NHS Trust, United Kingdom.

Immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) mutations are associated with partial continuum between two extremes of rapidly lethal disorder of spinal muscular atrophy with respiratory distress type 1 (SMARD1), with infantile axonal neuropathy, diaphragmatic weakness and commonly death before 1 year of age, and Charcot-Marie-Tooth disease (CMT) type 2S with slowly progressive weakness and sensory loss but no significant respiratory compromise. We present an atypical case of CMT2S. A 9 month old boy presented with bilateral feet deformities and axonal neuropathy. Read More

J Peripher Nerv Syst 2018 Nov 5. Epub 2018 Nov 5.

Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan.

We report the first family with a glycyl-tRNA synthetase (GARS) mutation with autosomal dominant intermediate Charcot-Marie-Tooth disease (DI-CMT). The proband and the proband's father presented with gait disturbance and hand weakness. Both patients displayed moderately decreased conduction velocities (MNCV) (ranging from 29. Read More

Gait Posture 2019 Jan 25;67:147-150. Epub 2018 Sep 25.

IRCCS Fondazione Don Carlo Gnocchi, Milano, Italy.

Background: Postural stabilization is the function which allows an individual, after a transitional movement, to recover balance in a quiet erect posture. An experimental method has been proposed (Rabuffetti, 2011) and proved valid for the assessment of balance disorders in individuals with neurological diseases. It would seem that the two original indices were not fully independent since their concurrent distribution was confined by a hyperbolic boundary. Read More

Tex Heart Inst J 2018 08 1;45(4):270-272. Epub 2018 Aug 1.

Charcot-Marie-Tooth disease comprises a vast array of defects in myelin integrity that causes progressive peripheral sensorimotor neuropathy. It is the most prevalent inherited peripheral neuropathy, and it can affect the management of coexisting medical conditions. We report the case of a 25-year-old woman who had undergone successful Fontan surgery during childhood, but her Fontan circulation failed as a result of diaphragmatic paresis caused by Charcot-Marie-Tooth disease type 1A. Read More

BMJ Open 2018 Oct 28;8(10):e021632. Epub 2018 Oct 28.

Département de génétique médicale, Hôpital Timone enfants, Assistance Publique Hôpitaux de Marseille, Marseille, France.

Purpose: Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to screen all these genes with high efficiency in order to unravel the genetic basis of the disease. Here, we compare the diagnostic yield of targeted NGS with our previous gene by gene Sanger sequencing strategy. Read More

Am J Phys Med Rehabil 2018 Oct 26. Epub 2018 Oct 26.

Service de Médecine Physique et de Réadaptation, CHU Clermont-Ferrand, INRA, Université Clermont Auvergne, Clermont-Ferrand, France.

Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary neuropathy. Affected individuals have a distal motor deficit, initially affecting the lower limbs and impairing walking performance. Isokinetic dynamometry can be used to objectively assess muscle strength of patients with neuromuscular disorders. Read More

Expert Opin Ther Targets 2018 Dec;22(12):993-1007

a Department of Neurosciences , KU Leuven - University of Leuven, Experimental Neurology and Leuven Brain Institute (LBI) , Leuven , Belgium.

Introduction: Peripheral neuropathies are a heterogeneous group of diseases that are characterized by a progressive, ascending loss of nerve function arising from the peripheral regions of the limbs. The phenotypic overlap between different types of hereditary and acquired peripheral neuropathies indicates that similar pathophysiological processes are at play. Many downstream pathways in peripheral neurons, such as axonal transport, protein degradation, and interactions with Schwann cells, organelle damage, channelopathies, and neuroinflammatory signaling, have been proposed and each affects peripheral nerves in a negative way. Read More

Arch Pediatr 2018 Nov 16;25(8):452-458. Epub 2018 Oct 16.

Neuropediatric department, La Timone Teaching hospital, 264, rue Saint-Pierre, 13385 Marseille, France.

Introduction: Charcot-Marie-Tooth disease (CMT) is an inherited peripheral neuropathy with an impact on patients' quality of life and wide genetic heterogeneity. Next-generation sequencing (NGS) has extended the molecular diagnosis. This study aims to describe a cohort of patients with CMT onset in childhood to explore genotype-phenotype correlations. Read More

Disabil Rehabil 2018 Oct 18:1-6. Epub 2018 Oct 18.

a Centro Sclerosi Multipla, Department of Medical Science and Public Health , University of Cagliari , Cagliari , Italy.

Background: Gait analysis is a reliable tool to characterise ambulation in Charcot-Marie-Tooth, the obtained are complex data makes its use scarce in clinical practice. The use of synthetic measures may enable the clinician to easily interpret gait kinematics in Charcot-Marie-Tooth.

Aims: To test the usefulness of Gait Profile Score as a method to quantify and monitor kinematic gait alterations in Charcot-Marie-Tooth. Read More

BMJ Case Rep 2018 Oct 16;2018. Epub 2018 Oct 16.

St. Mary's Hospital, London, UK.

An 18-year-old black African man with well-controlled perinatally acquired HIV-1 was diagnosed in late adolescence with the unrelated diagnoses of Charcot-Marie-Tooth type 1A (CMT1A), epilepsy due to polymicrogyria and subsequently developed severe depression. The CMT1A diagnosis occurred after transfer of care from a local paediatric HIV service to a tertiary paediatric referral centre and was precipitated by recognition of a history and neurological signs not typically associated with perinatal HIV. The case resulted in the establishment of a quarterly combined paediatric HIV and paediatric neurology multidisciplinary team clinic to assess children and adolescents living with HIV with neurological symptoms. Read More

J Pak Med Assoc 2018 Jul;68(7):1039-1042

Department of Biosciences, COMSATS Institute of Information Technology Sahiwal Campus.

Objective: To find the causative mutation by linkage analysisof Charcot-Marie-Tooth disease while focussing on AMACR gene.

Methods: The case-control study was conducted from November 2016 to March 2017 in Kongju National University Korea.A family of 15 members with composite symptoms of peripheral neuropathy were enrolled. Read More

J Vet Intern Med 2018 Nov 13;32(6):2003-2012. Epub 2018 Oct 13.

U955-IMRB, Inserm, Ecole Nationale Vétérinaire d'Alfort, Unité de neurologie, Maisons-Alfort, France.

Background: The only hereditary neurologic disorder described so far in American Staffordshire Terriers is adult-onset cerebellar degeneration secondary to ceroid lipofuscinosis. We have seen several dogs with a newly recognized neurological disease characterized by locomotor weakness with or without respiratory signs and juvenile onset consistent with degenerative polyneuropathy of genetic origin.

Objectives: To characterize a novel polyneuropathy in juvenile American Staffordshire Terriers. Read More

J Neurol Neurophysiol 2018 Jul;9(4):465

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal/Child Sciences, University of Genova, Italy.

Objective: Charcot-Marie-Tooth neuropathy affects mainly and early the lower limbs, but hands deformities are a relevant problem, which involves the quality of life of the patients. Unfortunately, there are few studies about the evaluation of the upper limbs and very rare works about the rehabilitation. A treatment study at the moment is missing and it is important to search rehabilitation exercises to improve the dexterity and the quality of life of the patients. Read More

PLoS One 2018 10;13(10):e0204949. Epub 2018 Oct 10.

Department of Health Sciences Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

Charcot Marie Tooth disease (CMT) has negative functional impact on postural control of children; however, it has not been widely studied. Stabilometry can provide insights about postural control and guide preventive interventions in immature perceptual and musculoskeletal systems as those seen in children with CMT. This cross-sectional study aimed to identify and interpret stabilometric variables that reflect the postural control of children with CMT. Read More

Neurophysiol Clin 2018 Oct 2;48(5):251-259. Epub 2018 Oct 2.

Reference Center for Neuromuscular Diseases and ALS, Timone University Hospital, 13385 Marseille, France; Inserm, GMGF, Aix-Marseille University, Marseille, 13385 France. Electronic address:

The need for a valid biomarker for assessing disease progression and for use in clinical trials on amyotrophic lateral sclerosis (ALS) has stimulated the study of methods that could measure the number of motor units. Motor unit number index (MUNIX) is a newly developed neurophysiological technique that was demonstrated to have a good correlation with the number of motor units in a given muscle, even though it does not necessarily accurately express the actual number of viable motor neurons. Several studies demonstrated the technique is reproducible and capable of following motor neuron loss in patients with ALS and peripheral polyneuropathies. Read More

Orphanet J Rare Dis 2018 Oct 4;13(1):176. Epub 2018 Oct 4.

UOC Malattie neurodegenerative e neurometaboliche rare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Background: The worldwide landscape of patient registries in the neuromuscular disease (NMD) field has significantly changed in the last 10 years, with the international TREAT-NMD network acting as strong driver. At the same time, the European Medicines Agency and the large federations of rare disease patient organizations (POs), such as EURORDIS, contributed to a great cultural change, by promoting a paradigm shift from product-registries to patient-centred registries. In Italy, several NMD POs and Fondazione Telethon undertook the development of a TREAT-NMD linked patient registry in 2009, with the referring clinical network providing input and support to this initiative through the years. Read More

Foot Ankle Int 2018 Nov 4;39(11):1370-1382. Epub 2018 Oct 4.

3 Institute for Foot and Ankle Reconstruction, Mercy Medical Center, Baltimore, MD, USA.

Adv Biol Regul 2018 Sep 25. Epub 2018 Sep 25.

UCSF Benioff Children's Hospital Oakland, Children's Hospital Oakland Research Institute, 5700 Martin Luther King Jr. Way, Oakland, CA, 94609, USA. Electronic address:

Sphingosine-1-phosphate lyase (SPL) is an intracellular enzyme that controls the final step in the sphingolipid degradative pathway, the only biochemical pathway for removal of sphingolipids. Specifically, SPL catalyzes the cleavage of sphingosine 1-phosphate (S1P) at the C2-3 carbon bond, resulting in its irreversible degradation to phosphoethanolamine (PE) and hexadecenal. The substrate of the reaction, S1P, is a bioactive sphingolipid metabolite that signals through a family of five G protein-coupled S1P receptors (S1PRs) to mediate biological activities including cell migration, cell survival/death/proliferation and cell extrusion, thereby contributing to development, physiological functions and - when improperly regulated - the pathophysiology of disease. Read More

Indian J Nephrol 2018 Sep-Oct;28(5):397-400

Department of Pathology, Yashoda Hospitals, Secunderabad, Telangana, India.

A 40-year-old female presented to the neurologist with gradually progressive weakness of distal and proximal muscles of both lower limbs and cramps for 2 years. She gave a history of similar illness in her paternal grandmother and her father. Her examination revealed bilateral foot drop and mild proximal muscle weakness. Read More

BMC Cell Biol 2018 09 29;19(1):22. Epub 2018 Sep 29.

Department of Neurology & Rehabilitation, University of Illinois at Chicago, Chicago, IL, 60612, USA.

Background: The gap junction protein, Connexin32 (Cx32), is expressed in various tissues including liver, exocrine pancreas, gastrointestinal epithelium, and the glia of the central and peripheral nervous system. Gap junction-mediated cell-cell communication and channel-independent processes of Cx32 contribute to the regulation of physiological and cellular activities such as glial differentiation, survival, and proliferation; maintenance of the hepatic epithelium; and axonal myelination. Mutations in Cx32 cause X-linked Charcot-Marie-Tooth disease (CMT1X), an inherited peripheral neuropathy. Read More

Muscle Nerve 2018 Sep 28. Epub 2018 Sep 28.

The University of Sydney, Sydney Children's Hospitals Network (Randwick and Westmead), Sydney, New South Wales, Australia.

Introduction: Biomarkers of disease severity in Charcot-Marie-Tooth disease (CMT) are required to evaluate early responses to treatment. The study aimed to evaluate the relationship between muscle volume and intramuscular fat accumulation by magnetic resonance imaging (MRI) and weakness, disability and impaired gait in affected children and adolescents.

Methods: 55 participants underwent MRI of the anterior compartment of the lower leg. Read More

Neurosci Res 2018 Sep 24. Epub 2018 Sep 24.

Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo, 192-0392, Japan; Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo, 157-8535, Japan. Electronic address:

Charcot-Marie-Tooth (CMT) disease is composed of a heterogeneous group of hereditary peripheral neuropathies. The peripheral nervous system primarily comprises two types of cells: neuronal cells and myelinating glial Schwann cells. CMT2 N is an autosomal dominant disease and its responsible gene encodes alanyl-tRNA synthetase (AARS), which is a family of cytoplasmic aminoacyl-tRNA synthetases. Read More

Curr Genomics 2018 Sep;19(6):412-419

Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, UK.

The rapid development in the last 10-15 years of microarray technologies, such as oligonucleotide array Comparative Genomic Hybridization (CGH) and Single Nucleotide Polymorphisms (SNP) genotyping array, has improved the identification of fine chromosomal structural variants, ranging in length from kilobases (kb) to megabases (Mb), as an important cause of genetic differences among healthy individuals and also as disease-susceptibility and/or disease-causing factors. Structural genomic variations due to unbalanced chromosomal rearrangements are known as Copy-Number Variants (CNVs) and these include variably sized deletions, duplications, triplications and translocations. CNVs can significantly contribute to human diseases and rearrangements in several dosage-sensitive genes have been identified as an important causative mechanism in the molecular aetiology of Charcot-Marie-Tooth (CMT) disease and of several CMT-related disorders, a group of inherited neuropathies with a broad range of clinical phenotypes, inheritance patterns and causative genes. Read More

J Neurol Neurosurg Psychiatry 2018 Sep 26. Epub 2018 Sep 26.

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

Objective: To identify the genetic characteristics in a large-scale of patients with Charcot-Marie-Tooth disease (CMT).

Methods: From May 2012 to August 2016, we collected 1005 cases with suspected CMT throughout Japan, whereas duplication/deletion were excluded in advance for demyelinating CMT cases. We performed next-generation sequencing targeting CMT-related gene panels using Illumina MiSeq or Ion Proton, then analysed the gene-specific onset age of the identified cases and geographical differences in terms of their genetic spectrum. Read More

Mol Genet Metab 2018 Nov 24;125(3):302-304. Epub 2018 Aug 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

Charcot-Marie-Tooth (CMT) disease type 1 is an inherited peripheral neuropathy characterized by demyelination and reduced nerve conduction velocities. We present a multi-generational family with peripheral neuropathy in whom clinical CMT panel testing failed to conclude a molecular diagnosis. We found a PMP2 pathogenic variant c. Read More

Brain 2018 Oct;141(10):2878-2894

Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK.

Deafferentation of motor neurons as a result of defective sensory-motor connectivity is a critical early event in the pathogenesis of spinal muscular atrophy, but the underlying molecular pathways remain unknown. We show that restoration of ubiquitin-like modifier-activating enzyme 1 (UBA1) was sufficient to correct sensory-motor connectivity in the spinal cord of mice with spinal muscular atrophy. Aminoacyl-tRNA synthetases, including GARS, were identified as downstream targets of UBA1. Read More

Brain Behav 2018 Oct 21;8(10):e01118. Epub 2018 Sep 21.

Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio.

Introduction: Classic Charcot-Marie-Tooth (CMT) neuropathies including those with Schwann cell genetic defects exhibit a length-dependent process affecting the distal axon. Energy deprivation in the distal axon has been the proposed mechanism accounting for length-dependent distal axonal degeneration. We hypothesized that pyruvate, an intermediate glycolytic product, could restore nerve function, supplying lost energy to the distal axon. Read More

Neurology 2018 Oct 19;91(15):e1381-e1384. Epub 2018 Sep 19.

From the Department of Neurology (K.E., J.M., J.S., D.N.H.), University of Rochester, NY; Faculty of Health Sciences & Children's Hospital at Westmead (J.B., K.C.), University of Sydney, Australia; and Departments of Neurology (C.B., M.E.S.), Physical Therapy (M.L.S.), and Pediatrics (R.S.), University of Iowa, Carver College of Medicine, Iowa City.

Objective: The purpose of this study was to examine the feasibility, reliability, and convergent validity of the Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM), a new performance-based measure assessing functional ability in adults with CMT disease.

Methods: Adults with CMT type 1A (CMT1A) were recruited at the Universities of Rochester and Iowa. Participants were assessed using the CMT-FOM, CMT Exam Score (CMTES), and a symptom report. Read More

Clin Neurophysiol 2018 Nov 1;129(11):2259-2267. Epub 2018 Sep 1.

Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy; Neurology Division, Department of Neuroscience AOUI Verona, Verona, Italy. Electronic address:

Objective: Ulnar/median motor nerve conduction velocity (MNCV) is ≤38 m/s in demyelinating Charcot-Marie-Tooth disease (CMT). Previous nerve high resolution ultrasound (HRUS) studies explored demyelinating CMT assuming it as a homogeneous genetic/pathological entity or focused on CMT1A.

Methods: To explore the spectrum of nerve HRUS findings in demyelinating CMTs, we recruited patients with CMT1A (N = 44), CMT1B (N = 9), CMTX (N = 8) and CMT4C (N = 4). Read More

Exp Ther Med 2018 Sep 24;16(3):2281-2286. Epub 2018 Jul 24.

Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, P.R. China.

Charcot-Marie-Tooth (CMT) is a group of inherited peripheral neuropathies. To date, mutations in >80 genes are reportedly associated with CMT. Protein mitofusin 2 encoded by serves an essential role in mitochondrial fusion and regulation of apoptosis, which has previously been reported to be highly associated with an axonal form of neuropathy (CMT2A). Read More

J Med Syst 2018 Sep 10;42(10):192. Epub 2018 Sep 10.

College of Engineering, King Saud University, Riyadh, Saudi Arabia.

In the developing technology Charcot-Marie-Tooth (CMT) disease is one of the teeth diseases which are occurred due to the genetic reason. The CMT disease affects the muscle tissue which reduces the progressive growth of the muscle. So, the CMT disease needs to be recognized carefully for eliminating the risk factors in the early stage. Read More

J Neurol Neurosurg Psychiatry 2018 Sep 8. Epub 2018 Sep 8.

Neurogenetics Unit, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Objective: X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary neuropathy caused by mutations in coding for connexin-32, a gap junction protein expressed in Schwann cells, but also found in oligodendrocytes. Four patients with CMTX developing central nervous system (CNS) demyelination compatible with multiple sclerosis (MS) have been individually published. We presently sought to systematically investigate the relationship between CMTX and MS. Read More

J Hand Surg Am 2018 Aug 31. Epub 2018 Aug 31.

Peripheral Nerve Research Lab, Gillespie Neuroscience Research Facility, Irvine, Orange, CA; Department of Orthopaedic Surgery, University of California, Irvine, Orange, CA. Electronic address:

In light of the World Health Organization's push to accelerate progress toward a leprosy-free world by 2020, it is fitting to look back on the evolution of progress in treating lepromatous neuropathy and limb deformities. To date, no surgeon has had as great an impact on the understanding and treatment of this disease as Dr Paul Brand. Before Dr Brand's accomplishments, few surgeons participated in the management of the deformed leprous patient. Read More

Brain Dev 2018 Aug 31. Epub 2018 Aug 31.

Department of Pediatrics, Shiga University of Medical Science, Otsu 520-2192, Japan.

X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive optic atrophy. It is caused by a loss-of-function mutation in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1), which encodes isoform I of phosphoribosyl pyrophosphate synthetase (PRS-I). A decreased activity leads to nonsyndromic sensorineural deafness (DFN2), CMTX5, and Arts syndrome depending upon residual PRS-I activity. Read More

Lancet Child Adolesc Health 2017 Oct 27;1(2):82-83. Epub 2017 Jul 27.

Department of Biobehavioral Sciences, Teachers College, Columbia University, New York, NY, USA.

Lancet Child Adolesc Health 2017 Oct 10;1(2):106-113. Epub 2017 Jul 10.

Faculty of Health Sciences, The University of Sydney, Sydney, New South Wales, Australia.

Background: Exercise is potentially therapeutic for neuromuscular disorders, but a risk of harm exists due to overwork weakness. We aimed to assess the safety and efficacy of progressive resistance exercise for foot dorsiflexion weakness in children with Charcot-Marie-Tooth disease.

Methods: We did this randomised, double-blind, sham-controlled trial across the Sydney Children's Hospitals Network (NSW, Australia). Read More

Surg Radiol Anat 2018 Aug 30. Epub 2018 Aug 30.

Second Division of Physical Therapy, School of Health Sciences, Sapporo Medical University, South-1, West-17, Chu-Ou-Ku, Sapporo, Hokkaido, 060-8556, Japan.

Purpose: The coupled behavior of talocrural joint motion is primarily determined by the morphological features of the talar trochlea and tibiofibular mortise. Features of the radius of curvature of the talocrural joint, however, remain unclear. The objectives of this study were to evaluate the radius of curvature at the mid, medial, and lateral regions of both the talar trochlea and the tibial plafond, and to estimate subject-specific kinematics of the talocrural joint. Read More

Exp Neurol 2018 Dec 28;310:1-13. Epub 2018 Aug 28.

Department of Applied Biology, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto 606-8585, Japan; The Center for Advanced Insect Research, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto 606-8585, Japan. Electronic address:

Neuron-specific knockdown of the dFIG4 gene, a Drosophila homologue of human FIG4 and one of the causative genes for Charcot-Marie-Tooth disease (CMT), reduces the locomotive abilities of adult flies, as well as causing defects at neuromuscular junctions, such as reduced synaptic branch length in presynaptic terminals of the motor neurons in third instar larvae. Eye imaginal disc-specific knockdown of dFIG4 induces abnormal morphology of the adult compound eye, the rough eye phenotype. In this study, we carried out modifier screening of the dFIG4 knockdown-induced rough eye phenotype using a set of chromosomal deficiency lines on the second chromosome. Read More