Full Text Journal Articles about
Charcot Marie Tooth and Other Hereditary Motor and Sensory Neuropathies

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Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.

Gerrit M Grosse, Christine Bauer, Bruno Kopp, Christoph Schrader, Alma Osmanovic,

BACKGROUND:Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders. A growing number of genes, involved in glial and neuronal functions, have been associated with different subtypes of CMT leading to improved diagnostics and understanding of pathophysiological mechanisms. However, some patients and families remain genetically unsolved. METHODS:We report ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):45]

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GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.

Rebecca Markovitz, Rajarshi Ghosh, Molly E Kuo, William Hong, Jaehyung Lim, Saunder Bernes, Stephanie Manberg, Kathleen Crosby, Pranoot Tanpaiboon, Diana Bharucha-Goebel, Carsten Bonnemann, Carrie A Mohila, Elizabeth Mizerik, Suzanne Woodbury, Weimin Bi, Timothy Lotze, Anthony Antonellis, Rui Xiao, Lorraine Potocki,

The majority of patients with spinal muscular atrophy (SMA) identified to date harbor a biallelic exonic deletion of SMN1. However, there have been reports of SMA-like disorders that are independent of SMN1, including those due to pathogenic variants in the glycyl-tRNA synthetase gene (GARS1). We report three unrelated patients with ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome.

Andreas Thimm, Ahmad Rahal, Ulrike Schoen, Angela Abicht, Stephan Klebe, Christoph Kleinschnitz, Tim Hagenacker, Mark Stettner,

PHARC syndrome is a rare neurodegenerative disorder caused by mutations in the ABHD12 gene. It is a genetically heterogeneous and clinically variable disease, which is characterized by demyelinating polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa, and early-onset cataract and can easily be misdiagnosed as other neurologic disorders with a similar ... Read more >>

J. Peripher. Nerv. Syst. (Journal of the peripheral nervous system : JPNS)
[2020, :]

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Neuromuscular Mimics of Entrapment Neuropathies of Upper Extremities.

James M Gilchrist, Sudeepta Dandapat,

Introduction: Carpal tunnel syndrome and ulnar neuropathy are such common maladies affecting the upper extremties that they often become the default diagnosis when patients complain of numbness, pain, or weakness of the hands. While often correct, there are a number of other conditions that can also cause sensory or motor ... Read more >>

Hand (N Y) (Hand (New York, N.Y.))
[2020, :1558944719898801]

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Clinical features of inherited neuropathy with BSCL2 mutations in Japan.

Satoshi Ishihara, Yuji Okamoto, Hajime Tanabe, Akiko Yoshimura, Yujiro Higuchi, Jun-Hui Yuan, Akihiro Hashiguchi, Hiroyuki Ishiura, Jun Mitsui, Shugo Suwazono, Yasushi Oya, Masayuki Sasaki, Masanori Nakagawa, Shoji Tsuji, Yusuke Ohya, Hiroshi Takashima,

Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene have been reported with different clinical phenotypes including Silver syndrome (SS)/spastic paraplegia 17 (SPG17), distal hereditary motor neuropathy type V (dHMN-V), and Charcot-Marie-Tooth (CMT) disease type 2. We screened 407 Japanese patients who were clinically suspected of having CMT by ... Read more >>

J. Peripher. Nerv. Syst. (Journal of the peripheral nervous system : JPNS)
[2020, :]

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Eye movements in demyelinating, autoimmune and metabolic disorders.

Jorge C Kattah, David S Zee,

PURPOSE OF REVIEW:In the last three decades, the use of eye movements and vestibular testing in many neurological disorders has accelerated, primarily because of practical technologic developments. Although the acute vestibular syndrome is a prime example of this progress, more chronic neurologic and systemic disorders have received less attention. We ... Read more >>

Curr. Opin. Neurol. (Current opinion in neurology)
[2020, 33(1):111-116]

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CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity.

Silvana Guerriero, Francesco D'Oria, Giacomo Rossetti, Rosa Anna Favale, Stefano Zoccolella, Giovanni Alessio, Vittoria Petruzzella,

Charcot-Marie-Tooth (CMT) constitutes a group of heterogeneous hereditary motor and sensor neuropathies. Mutations in mitofusin-2 (MFN2) cause CMT type 2A by altering mitochondrial fusion and trafficking along with the axonal microtubule system. In literature patients presenting with CMT2A are reported as having a subacute onset of optic atrophy associated with ... Read more >>

Int Med Case Rep J (International medical case reports journal)
[2020, 13:41-45]

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A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.

Yingdi Liu, Jinjie Xue, Zhuo Li, Siyuan Linpeng, Hu Tan, Yanling Teng, Desheng Liang, Lingqian Wu,

BACKGROUND:Charcot-Marie-Tooth (CMT) disease is a group of hereditary neuropathies with high phenotypic and genetic heterogeneity. In this study, we report a large family with X-linked CMT (CMTX) caused by a novel GJB1 mutation. METHODS:A family with the clinical diagnosis of CMTX was investigated. For mutation analysis, the coding region of ... Read more >>

Mol Genet Genomic Med (Molecular Genetics & Genomic Medicine)
[2020, 8(3):e1127]

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Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.

Viviana Pensato, Stefania Magri, Eleonora Dalla Bella, Pierpaola Tannorella, Enrica Bersano, Gianni Sorarù, Marta Gatti, Nicola Ticozzi, Franco Taroni, Giuseppe Lauria, Caterina Mariotti, Cinzia Gellera,

Amyotrophic lateral sclerosis (ALS) is an adult-onset progressive neurodegenerative disease due to motor neuron loss variably associated with frontotemporal dementia (FTD). Next generation sequencing technology revealed an increasing number of rare and novel genetic variants and interpretation of their pathogenicity represents a major challange in the diagnosis of ALS. We ... Read more >>

J Clin Med (Journal of clinical medicine)
[2020, 9(2):]

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Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.

Andrea Cortese, Janel E Wilcox, James M Polke, Roy Poh, Mariola Skorupinska, Alexander M Rossor, Matilde Laura, Pedro J Tomaselli, Henry Houlden, Michael E Shy, Mary M Reilly,

OBJECTIVE:To investigate the effectiveness of targeted next-generation sequencing (NGS) panels in achieving a molecular diagnosis in Charcot-Marie-Tooth disease (CMT) and related disorders in a clinical setting. METHODS:We prospectively enrolled 220 patients from 2 tertiary referral centers, one in London, United Kingdom (n = 120), and one in Iowa (n = ... Read more >>

Neurology (Neurology)
[2020, 94(1):e51-e61]

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Walking and weakness in children: a narrative review of gait and functional ambulation in paediatric neuromuscular disease.

Rachel A Kennedy, Kate Carroll, Jennifer L McGinley, Kade L Paterson,

BACKGROUND:Weakness is the primary impairment in paediatric neuromuscular diseases, impacting gait and gait-related functional activities in ambulant children affected by these rare and often degenerative diseases. Gait speed is an indicator of health and disability, yet gait is a complex, multi-faceted activity. Using the International Classification of Function, Health and ... Read more >>

J Foot Ankle Res (Journal of Foot and Ankle Research)
[2020, 13(1):10]

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CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model.

Chun-Jie Luan, Wenting Guo, Lei Chen, Xi-Wei Wei, Yimin He, Yan Chen, Su-Ying Dang, Robert Prior, Xihua Li, Ying Kuang, Zhu-Gang Wang, Ludo Van Den Bosch, Ming-Min Gu,

Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders of the peripheral nervous system. CMT is subdivided into two main types: a demyelinating form, known as CMT1, and an axonal form, known as CMT2. Nearly 30 genes have been identified as a cause of CMT2. One of these is ... Read more >>

Acta Neuropathol Commun (Acta Neuropathologica Communications)
[2020, 8(1):32]

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Flexible Players within the Sheaths: The Intrinsically Disordered Proteins of Myelin in Health and Disease.

Arne Raasakka, Petri Kursula,

Myelin ensheathes selected axonal segments within the nervous system, resulting primarily in nerve impulse acceleration, as well as mechanical and trophic support for neurons. In the central and peripheral nervous systems, various proteins that contribute to the formation and stability of myelin are present, which also harbor pathophysiological roles in ... Read more >>

Cells (Cells)
[2020, 9(2):]

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Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model.

Nicolas Granger, Alejandro Luján Feliu-Pascual, Charlotte Spicer, Sally Ricketts, Rebekkah Hitti, Oliver Forman, Joshua Hersheson, Henry Houlden,

Background:Charcot-Marie-Tooth (CMT) disease is the most common neuromuscular disorder in humans affecting 40 out of 100,000 individuals. In 2008, we described the clinical, electrophysiological and pathological findings of a demyelinating motor and sensory neuropathy in Miniature Schnauzer dogs, with a suspected autosomal recessive mode of inheritance based on pedigree analysis. ... Read more >>

PeerJ (PeerJ)
[2019, 7:e7983]

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Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report.

Youlong Liang, Jingli Liu, Daobin Cheng, Yu Wu, Liuhong Mo, Wen Huang,

BACKGROUND:The X-linked form of Charcot-Marie-Tooth disease type 1 (CMTX1) is an inherited peripheral neuropathy that arises in patients with mutations in the gap-junction beta-1 gene (GJB1). CASE PRESENTATION:Three young male patients from Southern China with pes cavus experienced multiple episodes of transient central nervous system (CNS) dysfunction. Three patients all ... Read more >>

BMC Neurol (BMC neurology)
[2019, 19(1):325]

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A recurrent GARS mutation causes distal hereditary motor neuropathy.

Diana C Lee, Rebecca Meyer-Schuman, Chelsea Bacon, Michael E Shy, Anthony Antonellis, Steven S Scherer,

We found a p.Gly327Arg mutation in GARS in two unrelated women, both of whom had a similar phenotype - motor weakness that began in late childhood, distal weakness in the arms and legs, a motor greater than sensory neuropathy with slowing of motor and not sensory conduction velocities. A de ... Read more >>

J. Peripher. Nerv. Syst. (Journal of the peripheral nervous system : JPNS)
[2019, 24(4):320-323]

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Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.

Xueping Chen, Jiao Liu, Qian-Qian Wei, Ru Wei Ou, Bei Cao, Xiaoqin Yuan, Yanbing Hou, Lingyu Zhang, Huifang Shang,

BACKGROUND:Spastic paraplegia type 11 (SPG11) mutations are the most frequent cause of autosomal recessive hereditary spastic paraplegia (ARHSP). We are aiming to identify the causative mutations in SPG11 among families referred to our center with ARHSP in a Chinese population. METHODS:Targeted next-generation sequencing was performed on the patients to identify ... Read more >>

BMC Neurol (BMC neurology)
[2020, 20(1):2]

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A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).

Bianca R Grosz, Natasha B Golovchenko, Melina Ellis, Kishore Kumar, Garth A Nicholson, Anthony Antonellis, Marina L Kennerson,

EGR2 (early growth response 2) is a crucial transcription factor for the myelination of the peripheral nervous system. Mutations in EGR2 are reported to cause a heterogenous spectrum of peripheral neuropathy with wide variation in both severity and age of onset, including demyelinating and axonal forms of Charcot-Marie Tooth (CMT) ... Read more >>

Sci Rep (Scientific reports)
[2019, 9(1):19336]

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Recurrent Stroke-Like Symptoms After Cesarean Section Deliveries in a Female Patient With X-Linked Charcot-Marie-Tooth Type 1.

Qu Li, Chen Chen, Yan Ren, Xu Liu,

Background: X-linked Charcot-Marie-Tooth type 1 (CMTX1) is the second most frequent form of CMT, which is caused by mutations in the gap junction beta 1 gene (GJB1) coding for connexin 32 protein. In addition to typical peripheral neuropathy, central nervous system (CNS) involvement in patients with CMTX1 has been reported ... Read more >>

Front Neurol (Frontiers in neurology)
[2020, 11:8]

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Prevalence and significance of cranial nerve imaging abnormalities in patients with hereditary neuropathies: Clinical implications at the skull base.

Ryan A Bartholomew, Amir A Zamani, Grace S Kim, Jennifer C Alyono, Haley Steinert, Vera Fridman, Reza Sadjadi, Robert K Jackler, C Eduardo Corrales,

Objective:To estimate the prevalence and significance of cranial nerve (CN) imaging abnormalities in patients with hereditary neuropathy and discuss clinical implications. Methods:We retrospectively analyzed data from patients at four tertiary academic medical centers with hereditary neuropathy diagnoses who had undergone gadolinium-enhanced magnetic resonance imaging (MRI) of the brain or skull ... Read more >>

Laryngoscope Investig Otolaryngol (Laryngoscope investigative otolaryngology)
[2020, 5(1):11-18]

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Length-dependent MRI of hereditary neuropathy with liability to pressure palsies.

Michael Pridmore, Ryan Castoro, Megan Simmons McCollum, Hakmook Kang, Jun Li, Richard Dortch,

OBJECTIVE:Hereditary neuropathy with liability to pressure palsies (HNPP) is caused by heterozygous deletion of the peripheral myelin protein 22 (PMP22) gene. Patients with HNPP present multifocal, reversible sensory/motor deficits due to increased susceptibility to mechanical pressure. Additionally, age-dependent axonal degeneration is reported. We hypothesize that length-dependent axonal loss can be ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, 7(1):15-25]

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An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.

Christina Sundal, Susana Carmona, Maria Yhr, Odd Almström, Maria Ljungberg, John Hardy, Carola Hedberg-Oldfors, Åsa Fred, José Brás, Anders Oldfors, Oluf Andersen, Rita Guerreiro,

Swedish type Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS-S) is a severe adult-onset leukoencephalopathy with the histopathological hallmark of neuraxonal degeneration with spheroids, described in a large family with a dominant inheritance pattern. The initial stage of the disease is dominated by frontal lobe symptoms that develop into a rapidly advancing ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2019, 7(1):188]

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Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.

Menelaos Pipis, Alexander M Rossor, Matilde Laura, Mary M Reilly,

Charcot-Marie-Tooth disease and the related disorders hereditary motor neuropathy and hereditary sensory neuropathy, collectively termed CMT, are the commonest group of inherited neuromuscular diseases, and they exhibit wide phenotypic and genetic heterogeneity. CMT is usually characterized by distal muscle atrophy, often with foot deformity, weakness and sensory loss. In the ... Read more >>

Nat Rev Neurol (Nature reviews. Neurology)
[2019, 15(11):644-656]

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Neuropathologic description of CHCHD10 mutated amyotrophic lateral sclerosis.

Julia L Keith, Emily Swinkin, Andrew Gao, Samira Alminawi, Ming Zhang, Philip McGoldrick, Paul McKeever, Janice Robertson, Ekaterina Rogaeva, Lorne Zinman,

Objective:To present the postmortem neuropathologic report of a patient with a CHCHD10 mutation exhibiting an amyotrophic lateral sclerosis (ALS) clinical phenotype. Methods:A 54-year-old man without significant medical history or family history presented with arm weakness, slowly progressed over 19 years to meet the El Escorial criteria for clinically probable ALS ... Read more >>

Neurol Genet (Neurology. Genetics)
[2020, 6(1):e394]

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Robust induction of neural crest cells to derive peripheral sensory neurons from human induced pluripotent stem cells.

Yoshie Umehara, Sumika Toyama, Mitsutoshi Tominaga, Hironori Matsuda, Nobuaki Takahashi, Yayoi Kamata, François Niyonsaba, Hideoki Ogawa, Kenji Takamori,

Because intractable itch reduces quality of life, understanding the fundamental mechanisms of itch is required to develop antipruritic treatments. Itch is mediated by peripheral sensory neurons, which originate from the neural crest (NC) during development. Itch-associated signaling molecules have been detected in genetically engineered animals and in cultures of peripheral ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):4360]

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