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https://www.readbyqxmd.com/read/30216910/nerve-ultrasound-findings-differentiate-charcot-marie-tooth-disease-cmt-1a-from-other-demyelinating-cmts
#1
Giampietro Zanette, Gian Maria Fabrizi, Federica Taioli, Matteo Francesco Lauriola, Andrea Badari, Moreno Ferrarini, Tiziana Cavallaro, Stefano Tamburin
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)...
September 1, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/30210586/exome-sequencing-reveals-a-novel-mfn2-missense-mutation-in-a-chinese-family-with-charcot-marie-tooth-type-2a
#2
Yi You, Xiaodong Wang, Shan Li, Xiuli Zhao, Xue Zhang
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 MFN2 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). In the present study, a large Chinese family with severe CMT was reported and a genetic analysis of the disease was performed. A detailed physical examination for CMT was performed in 13 family members and electrophysiological examinations were performed in 3 affected family members...
September 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/30196252/x-linked-charcot-marie-tooth-disease-and-multiple-sclerosis-emerging-evidence-for-an-association
#3
Georgios Koutsis, Marianthi Breza, Georgios Velonakis, John Tzartos, Dimitrios Kasselimis, Chrisoula Kartanou, Efstratios Karavasilis, Dimitrios Tzanetakos, Maria Anagnostouli, Elisavet Andreadou, Maria-Eleftheria Evangelopoulos, Constantinos Kilidireas, Constantin Potagas, Marios Panas, Georgia Karadima
OBJECTIVE: X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary neuropathy caused by mutations in GJB1 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. METHODS: Over 20 years, 70 consecutive patients (36 men) with GJB1 mutations were identified at our Neurogenetics Unit, Athens, Greece, and assessed for clinical features suggestive of MS...
September 8, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30177357/lessons-from-leprosy-peripheral-neuropathies-and-deformities-in-chronic-demyelinating-diseases
#4
REVIEW
Justin P Chan, Jennifer Uong, Nima Nassiri, Ranjan Gupta
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. By challenging conventional beliefs, Dr Brand revealed that many of the deformities associated with leprosy were in fact caused by nerve damage and subsequent limb anesthesia...
August 31, 2018: Journal of Hand Surgery
https://www.readbyqxmd.com/read/30177296/x-linked-charcot-marie-tooth-disease-type-5-with-recurrent-weakness-after-febrile-illness
#5
Noriko Nishikura, Takanori Yamagata, Takao Morimune, Jun Matsui, Tatsuyuki Sokoda, Chihiro Sawai, Yuko Sakaue, Yujiro Higuchi, Akihiro Hashiguchi, Hiroshi Takashima, Yoshihiro Takeuchi, Yoshihiro Maruo
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...
August 31, 2018: Brain & Development
https://www.readbyqxmd.com/read/30169207/benefits-of-exercise-therapy-in-charcot-marie-tooth-disease
#6
Jacqueline Montes, Carol Ewing Garber
No abstract text is available yet for this article.
October 2017: Lancet Child & Adolescent Health
https://www.readbyqxmd.com/read/30169201/safety-and-efficacy-of-progressive-resistance-exercise-for-charcot-marie-tooth-disease-in-children-a-randomised-double-blind-sham-controlled-trial
#7
Joshua Burns, Amy D Sman, Kayla M D Cornett, Elizabeth Wojciechowski, Terri Walker, Manoj P Menezes, Melissa R Mandarakas, Kristy J Rose, Paula Bray, Hugo Sampaio, Michelle Farrar, Kathryn M Refshauge, Jacqueline Raymond
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). Children aged 6-17 years with Charcot-Marie-Tooth disease were eligible if they had foot dorsiflexion weakness (negative Z score based on age-matched and sex-matched normative reference values)...
October 2017: Lancet Child & Adolescent Health
https://www.readbyqxmd.com/read/30165075/genetic-screening-of-the-genes-interacting-with-drosophila-fig4-identified-a-novel-link-between-cmt-causing-gene-and-long-noncoding-rnas
#8
Yuuka Muraoka, Aya Nakamura, Ryo Tanaka, Kojiro Suda, Yumiko Azuma, Yukie Kushimura, Luca Lo Piccolo, Hideki Yoshida, Ikuko Mizuta, Takahiko Tokuda, Toshiki Mizuno, Masanori Nakagawa, Masamitsu Yamaguchi
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...
August 28, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/30158064/mfn2-associated-lipomatosis-clinical-spectrum-and-impact-on-adipose-tissue
#9
Emilie Capel, Camille Vatier, Pascale Cervera, Tanya Stojkovic, Emmanuel Disse, Anne-Ségolène Cottereau, Martine Auclair, Marie-Christine Verpont, Héléna Mosbah, Pierre Gourdy, Sara Barraud, Anne Miquel, Stephan Züchner, Olivier Lascols, Corinne Vigouroux, Isabelle Jéru
BACKGROUND: Multiple symmetric lipomatosis (MSL) is characterized by upper-body lipomatous masses frequently associated with metabolic and neurological signs. MFN2 pathogenic variants were recently implicated in a very rare autosomal recessive form of MSL. MFN2 encodes mitofusin-2, a mitochondrial fusion protein previously involved in Charcot-Marie-Tooth neuropathy. OBJECTIVE: To investigate the clinical, metabolic, tissular, and molecular characteristics of MFN2-associated MSL...
July 25, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/30145633/bag3-mutation-in-a-patient-with-atypical-phenotypes-of-myofibrillar-myopathy-and-charcot-marie-tooth-disease
#10
Seung Ju Kim, Soo Hyun Nam, Sumaira Kanwal, Da Eun Nam, Da Hye Yoo, Jong-Hee Chae, Yeon-Lim Suh, Ki Wha Chung, Byung-Ok Choi
Bcl2-associated athanogene 3 (BAG3) mutations have been reported to cause the myofibrillar myopathy (MFM) which shows progressive limb muscle weakness, respiratory failure, and cardiomyopathy. Myopathy patients with BAG3 mutation are very rare. We described a patient showing atypical phenotypes. We aimed to find the genetic cause of Korean patients with sensory motor polyneuropathy, myopathy and rigid spine. We performed whole exome sequencing (WES) with 423 patients with sensory motor polyneuropathy. We found BAG3 mutation in one patient with neuropathy, myopathy and rigid spine syndrome, and performed electrophysiological study, whole body MRI and muscle biopsy on the patient...
August 25, 2018: Genes & Genomics
https://www.readbyqxmd.com/read/30140583/diagnoses-and-other-predictors-of-patient-absenteeism-in-an-outpatient-neurology-clinic
#11
David H Do, James E Siegler
Background: We sought to determine the neurologic diagnosis or diagnostic categories that are associated with a higher probability of honoring a scheduled follow-up visit in the outpatient clinic. Methods: We conducted a retrospective analysis of patients evaluated over a 3-year period (July 2014-June 2017) at a single neurology clinic in an urban location. Adult patients who honored an initial scheduled outpatient appointment were included. Only diagnoses with a ≥0...
August 2018: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/30126838/kif1b%C3%AE-mutations-detected-in-hereditary-neuropathy-impair-igf1r-transport-and-axon-growth
#12
Fang Xu, Hironori Takahashi, Yosuke Tanaka, Sotaro Ichinose, Shinsuke Niwa, Matthew P Wicklund, Nobutaka Hirokawa
KIF1Bβ is a kinesin-3 family anterograde motor protein essential for neuronal development, viability, and function. KIF1Bβ mutations have previously been reported in a limited number of pedigrees of Charcot-Marie-Tooth disease type 2A (CMT2A) neuropathy. However, the gene responsible for CMT2A is still controversial, and the mechanism of pathogenesis remains elusive. In this study, we show that the receptor tyrosine kinase IGF1R is a new direct binding partner of KIF1Bβ, and its binding and transport is specifically impaired by the Y1087C mutation of KIF1Bβ, which we detected in hereditary neuropathic patients...
August 20, 2018: Journal of Cell Biology
https://www.readbyqxmd.com/read/30126379/mutational-screening-of-inverted-formin-2-in-adult-onset-focal-segmental-glomerulosclerosis-or-minimal-change-patients-from-the-czech-republic
#13
Marketa Safarikova, Jitka Stekrova, Eva Honsova, Vera Horinova, Vladimir Tesar, Jana Reiterova
BACKGROUND: Mutations in INF2 are frequently responsible for focal segmental glomerulosclerosis (FSGS), which is a common cause of end stage renal disease (ESRD); additionally, they are also connected with Charcot-Marie-Tooth neuropathy. INF2 encodes for inverted formin 2. This protein participates in regulation of the dynamics of the actin cytoskeleton, involving not only the polymerisation, but also the depolymerisation of filaments. The present study is the first mutational analysis of INF2 done in the Czech Republic...
August 20, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/30124830/hypermorphic-and-hypomorphic-aars-alleles-in-patients-with-cmt2n-expand-clinical-and-molecular-heterogeneities
#14
Marian A J Weterman, Molly Kuo, Susan B Kenter, Sara Gordillo, Dyah W Karjosukarso, Ryuichi Takase, Marieke Bronk, Stephanie Oprescu, Fred Ruissen, Ron J W Witteveen, Henriette M E Bienfait, Martijn Breuning, Camiel Verhamme, Ya-Ming Hou, Marianne Visser, Anthony Antonellis, Frank Baas
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino-acid to a cognate tRNA. We identified three novel disease-associated missense mutations in the alanyl-tRNA synthetase (AARS) gene in three families with dominant axonal Charcot-Marie-Tooth (CMT) disease. Two mutations (p.Arg326Trp and p.Glu337Lys) are located near a recurrent pathologic change in AARS, p.Arg329His. The third (p...
August 14, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/30120135/validation-of-mrc-centre-mri-calf-muscle-fat-fraction-protocol-as-an-outcome-measure-in-cmt1a
#15
Jasper M Morrow, Matthew R B Evans, Tiffany Grider, Christopher D J Sinclair, Daniel Thedens, Sachit Shah, Tarek A Yousry, Michael G Hanna, Peggy Nopoulos, John S Thornton, Michael E Shy, Mary M Reilly
OBJECTIVE: To translate the quantitative MRC Centre MRI protocol in Charcot-Marie-Tooth disease type 1A (CMT1A) to a second site; validate its responsiveness in an independent cohort; and test the benefit of participant stratification to increase outcome measure responsiveness. METHODS: Three healthy volunteers were scanned for intersite standardization. For the longitudinal patient study, 11 patients with CMT1A were recruited with 10 patients rescanned at a 12-month interval...
September 18, 2018: Neurology
https://www.readbyqxmd.com/read/30110925/differentiation-of-human-tonsil-derived-mesenchymal-stem-cells-into-schwann-like-cells-improves-neuromuscular-function-in-a-mouse-model-of-charcot-marie-tooth-disease-type-1a
#16
Saeyoung Park, Namhee Jung, Seoha Myung, Yoonyoung Choi, Ki Wha Chung, Byung-Ok Choi, Sung-Chul Jung
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited motor and sensory neuropathy, and is caused by duplication of PMP22 , alterations of which are a characteristic feature of demyelination. The clinical phenotype of CMT1A is determined by the degree of axonal loss, and patients suffer from progressive muscle weakness and impaired sensation. Therefore, we investigated the potential of Schwann-like cells differentiated from human tonsil-derived stem cells (T-MSCs) for use in neuromuscular regeneration in trembler-J (Tr-J) mice, a model of CMT1A...
August 14, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/30104392/falls-in-paediatric-charcot-marie-tooth-disease-a-6-month-prospective-cohort-study
#17
Rachel A Kennedy, Kate Carroll, Graham Hepworth, Kade L Paterson, Monique M Ryan, Jennifer L McGinley
OBJECTIVE: To prospectively study falls in children and adolescents with Charcot-Marie-Tooth disease (CMT). DESIGN: Prospective cohort study. SETTING: Neuromuscular outpatient clinic of a tertiary paediatric hospital. PATIENTS: Sixty children and adolescents ('children') aged 4-18 years, 30 with CMT and 30 typically developing (TD). MAIN OUTCOME MEASURES: Falls rate over 6 months and falls characteristics questionnaire...
August 13, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/30091529/label-free-non-linear-microscopy-to-measure-myelin-outcome-in-a-rodent-model-of-charcot-marie-tooth-diseases
#18
Helene Hajjar, Hassan Boukhaddaoui, Amel Rizgui, Chamroeun Sar, Jade Berthelot, Claire Perrin-Tricaud, Herve Rigneault, Nicolas Tricaud
Myelin sheath produced by Schwann cells covers and nurtures axons to speed up nerve conduction in peripheral nerves. Demyelinating peripheral neuropathies result from the loss of this myelin sheath and so far, no treatment exists to prevent Schwann cell demyelination. One major hurdle to design a therapy for demyelination is the lack of reliable measures to evaluate the outcome of the treatment on peripheral myelin in patients but also in living animal models. Non-linear microscopy techniques which include second harmonic generation (SHG), third harmonic generation (THG) and coherent anti-stokes Raman scattering (CARS) were used to image myelin ex vivo and in vivo in the sciatic nerve of healthy and demyelinating mice and rats...
August 9, 2018: Journal of Biophotonics
https://www.readbyqxmd.com/read/30084872/the-classification-of-charcot-marie-tooth-diseases-a-never-ending-story-cmt4
#19
Jean-Michel Vallat, Meriem Tazir, Laurent Magy, Gwendal Le Masson, Stéphane Mathis
No abstract text is available yet for this article.
September 1, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30084871/reply-the-classification-of-charcot-marie-tooth-diseases-a-never-ending-story-cmt4
#20
Michael E Shy
No abstract text is available yet for this article.
September 1, 2018: Brain: a Journal of Neurology
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