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Charcot marie tooth disease

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https://www.readbyqxmd.com/read/28335037/lrsam1-mediated-ubiquitylation-is-disrupted-in-axonal-charcot-marie-tooth-disease-2p
#1
Johanna E Hakonen, Vincenzo Sorrentino, Rossella Avagliano Trezza, Marit B de Wissel, Marlene van den Berg, Boris Bleijlevens, Fred van Ruissen, Ben Distel, Frank Baas, Noam Zelcer, Marian A J Weterman
Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift mutation in the RING domain of LRSAM1 (c.2121_2122dup, p.Leu708Argfs) that encodes an E3 ubiquitin ligase, as the cause of axonal type CMT (CMT2P). However, the frequency of LRSAM1 mutations in CMT2 and the functional basis for their association with disease remains unknown. In this study we evaluated LRSAM1 mutations in two large Dutch cohorts...
March 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334782/golgi-retained-cx32-mutants-interfere-with-gene-addition-therapy-for-cmt1x
#2
Styliana Kyriakoudi, Irene Sargiannidou, Alexia Kagiava, Margarita Olympiou, Kleopas A Kleopa
Numerous GJB1 gene mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X). GJB1 encodes connexin32 (Cx32), which forms trans-myelin gap junctions in Schwann cells. Most GJB1 mutations result in loss-of-function mechanisms, supporting the concept of gene replacement therapy. However, interactions between delivered wild type and endogenously expressed mutant Cx32 may potentially occur in the setting of gene replacement therapy. In order to screen for possible interactions of several representative CMT1X mutants with wild type Cx32 that may interfere with functional gap junction formation, we established an in vitro screening method co-expressing in HeLa cells wild type Cx32 and one of eight different Cx32 mutants including A39P, A39V, T55I, R75W, M93V, L143P, N175D and R183S...
February 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28332470/adult-onset-demyelinating-neuropathy-associated-with-fbln5-gene-mutation
#3
Si Cheng, He Lv, Wei Zhang, Zhaoxia Wang, Xin Shi, Wei Liang, Yun Yuan
Rare forms of autosomal-dominant Charcot-Marie-Tooth disease (AD-CMT) may be associated with mutations in Fibulin-5 (FBLN5) as AD-CMT is genetically heterogeneous. Here, we report the first pathological study of an Asian family. The proband was a 46-year-old man with slowly progressive distal numbness and weakness for 12 years. He had a history of diabetes mellitus for 12 years. His mother was 81 years old and had mild polyneuropathy. His 16-year-old daughter was asymptomatic. The nerve conduction velocities (NCVs) and compound muscular action potential (CMAP) amplitudes were moderately to severely reduced in the proband, and moderately reduced in his daughter and mother...
March 23, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28297702/long-term-effective-thalamic-deep-brain-stimulation-for-neuropathic-tremor-in-two-patients-with-charcot-marie-tooth-disease
#4
Lidia Cabañes-Martínez, Marta Del Álamo de Pedro, Gema de Blas Beorlegui, Ignacio Regidor Bailly-Bailliere
BACKGROUND: It has been described that many Charcot-Marie-Tooth syndrome type 2 patients are affected by a very disabling type of tremor syndrome, the pathophysiology of which remains unclear. Deep brain stimulation (DBS) has been successfully applied to treat most types of tremors by implanting electrodes in the ventral intermediate nucleus of the thalamus (Vim). METHODS: We used DBS applied to the Vim in 2 patients with severe axonal inherited polyneuropathies who developed a disabling tremor...
March 16, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28286897/charcot-marie-tooth-disease-genetic-subtypes-in-the-sardinian-population
#5
Lorefice Lorena, Murru M Rita, Coghe Giancarlo, Fenu Giuseppe, Corongiu Daniela, Frau Jessica, Tranquilli Stefania, Tacconi Paolo, Vannelli Alessandro, Marrosu Giovanni, Mamusa Elena, Cocco Eleonora, Marrosu M Giovanna
Charcot-Marie-Tooth disease (CMT) is characterised by great variability of genetic subtypes. This study aimed to assess the genetic subtypes of CMT disease in the Sardinian population. Genetic screening was performed for CMT cases (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]). A total of 1,043 subjects (119 index cases) were evaluated. In CMT1 index cases (69/119; 58%), PMP22 duplication at 17p11.2 was the most frequent genetic diagnosis (60/69; 87%), followed by mutations in the GJB1 gene (5/69; 7...
March 13, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28283593/mutations-in-noncoding-regions-of-gjb1-are-a-major-cause-of-x-linked-cmt
#6
Pedro J Tomaselli, Alexander M Rossor, Alejandro Horga, Zane Jaunmuktane, Aisling Carr, Paola Saveri, Giuseppe Piscosquito, Davide Pareyson, Matilde Laura, Julian C Blake, Roy Poh, James Polke, Henry Houlden, Mary M Reilly
OBJECTIVE: To determine the prevalence and clinical and genetic characteristics of patients with X-linked Charcot-Marie-Tooth disease (CMT) due to mutations in noncoding regions of the gap junction β-1 gene (GJB1). METHODS: Mutations were identified by bidirectional Sanger sequence analysis of the 595 bases of the upstream promoter region, and 25 bases of the 3' untranslated region (UTR) sequence in patients in whom mutations in the coding region had been excluded...
March 10, 2017: Neurology
https://www.readbyqxmd.com/read/28264542/a-case-series-study-on-the-efficacy-of-functional-surgery-associated-with-early-intensive-rehabilitation-therapy-in-charcot-marie-tooth-type-1a-disease
#7
Francesco Ferraro, Barbara Dusina, Irene Carantini, Roberto Strambi, Emanuela Galante, Luca Gaiani
BACKGROUND: Charcot-Marie-Tooth (CMT) is a genetically and clinically heterogeneous disorder, and it is caused by alterations in genes with different loci that encode for proteins, resulting into metabolic and structural defects. The most common form of the disease is CMT1A. Treatment of the disease, due to the absence of an effective pharmacological therapy, mainly relies on surgical treatment and rehabilitative therapy. However, the Literature is still poor of evidences on this subject...
March 6, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28251916/genetic-heterogeneity-of-motor-neuropathies
#8
Boglarka Bansagi, Helen Griffin, Roger G Whittaker, Thalia Antoniadi, Teresinha Evangelista, James Miller, Mark Greenslade, Natalie Forester, Jennifer Duff, Anna Bradshaw, Stephanie Kleinle, Veronika Boczonadi, Hannah Steele, Venkateswaran Ramesh, Edit Franko, Angela Pyle, Hanns Lochmüller, Patrick F Chinnery, Rita Horvath
OBJECTIVE: To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort of patients from the North of England. METHODS: Detailed neurologic and electrophysiologic assessments and next-generation panel testing or whole exome sequencing were performed in 105 patients with clinical symptoms of distal hereditary motor neuropathy (dHMN, 64 patients), axonal motor neuropathy (motor Charcot-Marie-Tooth disease [CMT2], 16 patients), or complex neurologic disease predominantly affecting the motor nerves (hereditary motor neuropathy plus, 25 patients)...
March 1, 2017: Neurology
https://www.readbyqxmd.com/read/28244113/clinical-and-mutational-spectrum-of-japanese-patients-with-charcot-marie-tooth-disease-caused-by-gdap1-variants
#9
Akiko Yoshimura, Jun-Hui Yuan, Akihiro Hashiguchi, Yu Hiramatsu, Masahiro Ando, Yujiro Higuchi, Tomonori Nakamura, Yuji Okamoto, Kiichiro Matsumura, Toshiaki Hamano, Noriko Sawaura, Yoshimitsu Shimatani, Satoko Kumada, Yoshinori Okumura, Junichi Miyahara, Yoshitaka Yamaguchi, Shigekazu Kitamura, Kazuhiro Haginoya, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Mutations in GDAP1 are responsible for heterogeneous clinical and electrophysiological phenotypes, with autosomal dominant or recessive inheritance pattern. From April 2007 to October 2014, using three state-of-art technologies, we conducted gene panel sequencing in a cohort of 1,030 patients with inherited peripheral neuropathies (IPNs), and 398 mutation-negative cases were further analyzed with whole-exome sequencing. We identified GDAP1 variants from 10 patients clinically diagnosed with Charcot-Marie-Tooth disease (CMT)...
February 28, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28237315/loss-of-spatacsin-function-alters-lysosomal-lipid-clearance-leading-to-upper-and-lower-motor-neuron-degeneration
#10
Julien Branchu, Maxime Boutry, Laura Sourd, Marine Depp, Céline Leone, Alexandrine Corriger, Maeva Vallucci, Typhaine Esteves, Raphaël Matusiak, Magali Dumont, Marie-Paule Muriel, Filippo M Santorelli, Alexis Brice, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios
Mutations in SPG11 account for the most common form of autosomal recessive hereditary spastic paraplegia (HSP), characterized by a gait disorder associated with various brain alterations. Mutations in the same gene are also responsible for rare forms of Charcot-Marie-Tooth (CMT) disease and progressive juvenile-onset amyotrophic lateral sclerosis (ALS). To elucidate the physiopathological mechanisms underlying these human pathologies, we disrupted the Spg11 gene in mice by inserting stop codons in exon 32, mimicking the most frequent mutations found in patients...
February 22, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28236508/phenotypical-features-of-a-new-dominant-gdap1-pathogenic-variant-p-r226del-in-axonal-charcot-marie-tooth-disease
#11
Tania García-Sobrino, Patricia Blanco-Arias, Francesc Palau, Carmen Espinós, Laura Ramirez, Anna Estela, Beatriz San Millán, Manuel Arias, María-Jesús Sobrido, Julio Pardo
There are few reports on axonal CMT due to dominant GDAP1 mutations. We describe two unrelated Spanish families with a dominant axonal CMT. A novel in frame GAA deletion in exon 5 of the GDAP1 gene (c.677_679del; p.R226del) was identified in both families. Disease onset varied from early childhood to adulthood. Affected family members complained of distal lower limb weakness, cramps and foot deformities with variable CMTNS score in both families. Several individuals were asymptomatic or had paraesthesia only, however neurological examination and nerve conduction studies demonstrated neuropathic signs...
January 17, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28224639/rigid-spine-syndrome-associated-with-sensory-motor-axonal-neuropathy-resembling-charcot-marie-tooth-disease-is-characteristic-of-bag3-gene-mutations-even-without-cardiac-involvement
#12
Jean-Baptiste Noury, Thierry Maisonobe, Pascale Richard, Valérie Delague, Edoardo Malfatti, Tanya Stojkovic
INTRODUCTION: BAG3 (Bcl-2 associated athanogene-3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement and contractures and are associated with cardiac and respiratory impairment in the second decade. Axonal neuropathy has been documented, but usually not as a key clinical feature. METHODS: We report a 24-year-old woman with severe rigid spine syndrome and sensory-motor neuropathy resembling Charcot-Marie-Tooth disease (CMT)...
February 22, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28220846/cmt-linked-loss-of-function-mutations-in-gdap1-impair-store-operated-ca-2-entry-stimulated-respiration
#13
Paloma González-Sánchez, David Pla-Martín, Paula Martínez-Valero, Carlos B Rueda, Eduardo Calpena, Araceli Del Arco, Francesc Palau, Jorgina Satrústegui
GDAP1 is an outer mitochondrial membrane protein involved in Charcot-Marie-Tooth (CMT) disease. Lack of GDAP1 gives rise to altered mitochondrial networks and endoplasmic reticulum (ER)-mitochondrial interactions resulting in a decreased ER-Ca(2+) levels along with a defect on store-operated calcium entry (SOCE) related to a misallocation of mitochondria to subplasmalemmal sites. The defect on SOCE is mimicked by MCU silencing or mitochondrial depolarization, which prevent mitochondrial calcium uptake. Ca(2+) release from de ER and Ca(2+) inflow through SOCE in neuroblastoma cells result in a Ca(2+)-dependent upregulation of respiration which is blunted in GDAP1 silenced cells...
February 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28215760/two-novel-cases-of-compound-heterozygous-mutations-in-mitofusin2-finding-out-the-inheritance
#14
Alessandro Geroldi, Patrizia Lastella, Margherita Patruno, Fabio Gotta, Nicoletta Resta, Grazia Devigili, Carlo Sabbà, Rossella Gulli, Merit Lamp, Paola Origone, Paola Mandich, Emilia Bellone
MFN2 is the major gene involved in the axonal form of Charcot-Marie-Tooth disease. It usually has an autosomal dominant pattern of inheritance, but a few cases of homozygous or compound heterozygous mutations have been described. These patients usually present an earlier onset, more severe phenotype and their inheritance pattern can span from autosomal recessive to semidominant. Here we report two unrelated patients carrying two compound heterozygous MFN2 mutations. Both present a pure axonal neuropathy without any additional features...
January 17, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28214652/unilateral-oculomotor-palsy-in-charcot-marie-tooth-disease-1a-cmt-1a
#15
A Posa, A Emmer, M E Kornhuber
BACKGROUND: Charcot-Marie-Tooth disease (CMT) type 1A is the most common form of CMT 1 and one of the autosomal dominant demyelinating hereditary motor and sensory neuropathies (HMSN). Cranial nerves may be frequently subclinically affected in CMT disease. However manifest clinical signs of cranial nerve involvement are rare. METHODS: This case comprise neurological, ophthalmological, internal medicine and ear-nose-throat investigation, motor and sensory nerve conduction velocity, auditory evoked potentials and orbicularis-oculi reflex measurements, lumbar puncture and blood examination, inclusive molecular genetic testing, as well as electrocardiogram and cranial imaging such as computer tomography and magnetic resonance imaging RESULTS: The present case shows a Charcot-Marie-Tooth (CMT) 1A patient with complete unilateral oculomotor palsy in combination with predominant ipsilateral subclinical trigeminal demyelination...
February 13, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28211240/phenotypic-spectrum-of-charcot-marie-tooth-disease-due-to-litaf-simple-mutations-a-study-of-18-patients
#16
R Guimarães-Costa, R Iancu Ferfoglia, S Leonard-Louis, F Ziegler, L Magy, E Fournier, O Dubourg, P Bouche, T Maisonobe, A Lacour, A Moerman, P Latour, T Stojkovic
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of CMT. Our objective was to report the clinical and electrophysiological characteristics of 18 CMT1C patients and compare them to 20 patients with PMP22 mutations: 10 CMT1A patients and 10 patients with hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: Charcot-Marie-Tooth 1C patients were followed-up in referral centres for neuromuscular diseases or were identified by familial survey...
March 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28202949/clinical-diversity-caused-by-novel-ighmbp2-variants
#17
Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Hiroshi Yaguchi, Koji Tsuzaki, Azusa Ikeda, Kenji Wada-Isoe, Masahiro Ando, Tomonori Nakamura, Yujiro Higuchi, Yu Hiramatsu, Yuji Okamoto, Hiroshi Takashima
Immunoglobulin helicase μ-binding protein 2 (IGHMBP2) gene is responsible for Charcot-Marie-Tooth disease (CMT) type 2S and spinal muscular atrophy with respiratory distress type 1 (SMARD1). From June 2014 to December 2015, we collected 408 cases, who referred to our genetic laboratory for genetic analysis, suspected with CMT disease or other inherited peripheral neuropathies (IPNs) on the basis of clinical manifestations and electrophysiological studies. Mutation screening was performed using Ion AmpliSeq Custom Panels, which comprise 72 disease-causing or candidate genes of IPNs...
February 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28190646/vocal-cord-paralysis-in-charcot-marie-tooth-type-4b1-disease-associated-with-a-novel-mutation-in-the-myotubularin-related-protein-2-gene-a-case-report-and-review-of-the-literature
#18
Alberto Andrea Zambon, Maria Grazia Natali Sora, Giovanna Cantarella, Federica Cerri, Angelo Quattrini, Giancarlo Comi, Stefano Carlo Previtali, Alessandra Bolino
Charcot-Marie-Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. The natural history and the clinical variability of the disease are still poorly known, thus further clarification of the different phenotypes is needed. We report on the case of a Pakistani girl born to consanguineous parents harboring a novel mutation in the MTMR2 gene. When aged 18 months, reduced limb tone, muscle wasting associated with proximal and distal weakness prevalent in lower limbs, absence of tendon reflexes, hoarseness and inspiratory stridor were detected...
January 16, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28186670/rab7-may-be-a-novel-therapeutic-target-for-neurologic-diseases-as-a-key-regulator-in-autophagy
#19
REVIEW
Haixia Wen, Lixuan Zhan, Siyuan Chen, Long Long, En Xu
Macroautophagy is an evolutionally conserved membrane trafficking pathway that delivers intracellular materials to lysosomes for degradation and recycling. Rab7, as a member of the Rab GTPase superfamily, has a unique role in the regulation of macroautophagy, especially in modulating autophagy flux. The functional states of Rab7 generally switch between GTP-bound and GDP-bound states under the control of guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs). Activated GTP-Rab7 is capable of regulating autophagosome formation, autophagosome transportation along microtubules, endosome and autophagosome maturation, as well as lysosome biogenesis via interacting with its effector molecules...
February 10, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/28186137/glcnac6st-1-regulates-sulfation-of-n-glycans-and-myelination-in-the-peripheral-nervous-system
#20
Takeshi Yoshimura, Akiko Hayashi, Mai Handa-Narumi, Hirokazu Yagi, Nobuhiko Ohno, Takako Koike, Yoshihide Yamaguchi, Kenji Uchimura, Kenji Kadomatsu, Jan Sedzik, Kunio Kitamura, Koichi Kato, Bruce D Trapp, Hiroko Baba, Kazuhiro Ikenaka
Highly specialized glial cells wrap axons with a multilayered myelin membrane in vertebrates. Myelin serves essential roles in the functioning of the nervous system. Axonal degeneration is the major cause of permanent neurological disability in primary myelin diseases. Many glycoproteins have been identified in myelin, and a lack of one myelin glycoprotein results in abnormal myelin structures in many cases. However, the roles of glycans on myelin glycoproteins remain poorly understood. Here, we report that sulfated N-glycans are involved in peripheral nervous system (PNS) myelination...
February 10, 2017: Scientific Reports
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