Full Text Journal Articles about
Hereditary Neuropathies of the Charcot Marie Tooth Disease Type

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[Hereditary Polyneuropathies].

A Ferbert, C Roth,

Hereditary neuropathies are a group of diseases of which the most prevalent is Charcot Marie Tooth disease (CMT). From the clinical point of view pes cavus is a typical yet not specific sign for CMT. Motor signs like bilateral foot drop are dominant over sensory signs. Mutations in some 80 ... Read more >>

Fortschr Neurol Psychiatr (Fortschritte der Neurologie-Psychiatrie)
[2020, 88(3):198-209]

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Multidimensional evaluation is necessary to assess hand function in patients with Charcot-Marie-Tooth disease type 1A.

Vivien Reynaud, Isabelle Conforto, Pascale Givron, Pierre Clavelou, Catherine Cornut-Chauvinc, Frédéric Taithe, Bruno Pereira, Emmanuel Coudeyre,

BACKGROUND:Charcot-Marie-Tooth (CMT) disease type 1A (CMT1A) is the most common hereditary neuropathy. Several studies have assessed the relation between axonal loss and grip strength; however, the functional impact on dexterity and health-related quality of life (HRQoL) is unknown. We hypothesized that the severity of axonal loss will be correlated with ... Read more >>

Ann Phys Rehabil Med (Annals of physical and rehabilitation medicine)
[2020, :]

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Loss-of-function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system.

Gyun Jee Song, Deepak Prasad Gupta, Md Habibur Rahman, Hwan Tae Park, Imad Al Ghouleh, Alessandro Bisello, Maan-Gee Lee, Jae-Yong Park, Hyun Ho Park, Jin Hyun Jun, Ki Wha Chung, Byung-Ok Choi, Kyoungho Suk,

Finding causative genetic mutations is important in the diagnosis and treatment of hereditary peripheral neuropathies. This study was conducted to find new genes involved in the pathophysiology of hereditary peripheral neuropathy. We identified a new mutation in the EBP50 gene, which is co-segregated with neuropathic phenotypes, including motor and sensory ... Read more >>

Glia (Glia)
[2020, :]

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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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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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Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.

Jeremy M Sullivan, William W Motley, Janel O Johnson, William H Aisenberg, Katherine L Marshall, Katy Es Barwick, Lingling Kong, Jennifer S Huh, Pamela C Saavedra-Rivera, Meriel M McEntagart, Marie-Helene Marion, Lucy A Hicklin, Hamid Modarres, Emma L Baple, Mohamed H Farah, Aamir R Zuberi, Cathleen M Lutz, Rachelle Gaudet, Bryan J Traynor, Andrew H Crosby, Charlotte J Sumner,

Notch signaling is a highly conserved intercellular pathway with tightly regulated and pleiotropic roles in normal tissue development and homeostasis. Dysregulated Notch signaling has also been implicated in human disease, including multiple forms of cancer, and represents an emerging therapeutic target. Successful development of such therapeutics requires a detailed understanding ... Read more >>

J. Clin. Invest. (The Journal of clinical investigation)
[2020, 130(3):1506-1512]

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Comparison of gait patterns and functional measures between Charcot-Marie-Tooth disease type I and II in children to young adults.

Kelly Pogemiller, Erin Garibay, Kristan Pierz, Gyula Acsadi, Sylvia Õunpuu,

INTRODUCTION:Charcot-Marie-Tooth (CMT) disease is an inherited peripheral neuropathy that causes progressive distal extremity nerve degeneration and muscle atrophy which can negatively impact function, gait and quality of life. The purpose of this study was to determine if differences exist in gait patterns, clinical examination and functional measures between CMT type ... Read more >>

Gait Posture (Gait & posture)
[2020, 77:236-242]

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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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A recessive Trim2 mutation causes an axonal neuropathy in mice.

Jian J Li, Nicolas Sarute, Eunjoo Lancaster, Guliz Otkiran-Clare, Bani Medegan Fagla, Susan R Ross, Steven S Scherer,

We analyzed Trim2A/A mice, generated by CRISPR-Cas9, which have a recessive null mutation of Trim2. Trim2A/A mice develop ataxia that is associated with a severe loss of cerebellar Purkinje cells and a peripheral neuropathy. Myelinated axons in the CNS, including those in the deep cerebellar nuclei, have focal enlargements that ... Read more >>

Neurobiol. Dis. (Neurobiology of disease)
[2020, :104845]

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Antibodies against nodo-paranodal proteins are not present in genetic neuropathies.

Lorena Martín-Aguilar, Elba Pascual-Goñi, Cinta Lleixà, Marina Frasquet, Herminia Argente, Angel Cano-Abascal, Jordi Diaz-Manera, Elena Cortés-Vicente, Ana Lara Pelayo-Negro, Teresa Sevilla, Ricard Rojas-García, Luis Querol,

OBJECTIVE:To study the presence of nodal and paranodal immunoglobulin M (IgM) and immunoglobulin G (IgG) antibodies in patients with genetic neuropathies. METHODS:A total of 108 patients with genetic neuropathies from 3 different centers were included. The presence of IgG and IgM antibodies against neurofascin-155 (NF155), nodal neurofascin (NF186 and NF140), ... Read more >>

Neurology (Neurology)
[2020, :]

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Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease.

Qijie Yang, Xuewen Xiao, Zhenhua Yuan, Bin Jiao, Xinxin Liao, Juan Du,

Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. X-linked Charcot-Marie-Tooth disease in the GJB1 gene is known as CMTX1. We report a 14 years-old young man with walked unstably, bilateral strephenopodia, severe alopecia and paroxysmal bilateral upper limbs tremor without obvious muscle atrophy. Diagnostic whole-exome sequencing revealed a hemizygote ... Read more >>

J Clin Neurosci (Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia)
[2020, 73:311-313]

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Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation.

Jasmine Gite, Emily Milko, Lauren Brady, Steven K Baker,

Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy, has subtypes with varied inheritance patterns and phenotypic presentation. Subtypes additionally vary by genetic variants in a number of genes. Pathogenic variants in the VCP gene have newly been associated with CMT type 2. We present a family with CMT type ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2020, :]

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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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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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Neurological safety of oxaliplatin in patients with uncommon variants in Charcot-Marie-tooth disease genes.

Jennifer G Le-Rademacher, Camden L Lopez, Rahul Kanwar, Brittny Major-Elechi, Alexej Abyzov, Michaela S Banck, Terry M Therneau, Jeff A Sloan, Charles L Loprinzi, Andreas S Beutler,

Oxaliplatin therapy can be complicated by chemotherapy-induced peripheral neuropathy (CIPN). Other neurotoxic chemotherapies have been linked to single nucleotide variants (SNV) in Charcot-Marie-Tooth disease (CMT) genes. Whether oxaliplatin carries increased risks of CIPN due to SNV in CMT-associated genes is unknown. 353 patients receiving oxaliplatin in NCCTG N08CB were serially ... Read more >>

J. Neurol. Sci. (Journal of the neurological sciences)
[2020, 411:116687]

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Peripheral Myelin Protein 22 Preferentially Partitions into Ordered Phase Membrane Domains

Justin Marinko, Geoffrey Li, Anne Kenworthy, Charles Sanders,

Abstract The ordered environment of membrane rafts is thought to exclude many transmembrane proteins. Nevertheless, some multi-pass transmembrane proteins have been proposed to partition into ordered domains. Here, giant plasma membrane vesicles (GPMVs) were employed to quantitatively show that the tetraspan peripheral myelin protein 22 (PMP22) exhibits a pronounced preference ... Read more >>

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Distant homologies and domain conservation of the Hereditary Spastic Paraplegia protein SPG11/ALS5/spatacsin

Alexander Patto, Cahir O’Kane,

Abstract Loss-of-function mutations in SPG11 protein (spatacsin) are a common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. To identify regions of the protein that may have functions that are disrupted in disease, we carried out bioinformatic analyses of its conserved regions. An N-terminal region of around ... Read more >>

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Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease.

Dimitrios Kasselimis, Georgia Karadima, Georgia Angelopoulou, Marianthi Breza, Dimitrios Tsolakopoulos, Constantin Potagas, Marios Panas, Georgios Koutsis,

OBJECTIVE:X-linked Charcot-Marie-Tooth disease (CMTX) is an hereditary neuropathy caused by mutations in GJB1 coding for connexin-32, found in Schwann cells, but also expressed in oligodendrocytes. Reports have identified CNS involvement in CMTX, but no systematic study of cognitive function has been published. METHODS:We assessed 24 CMTX patients (13 males; 9GJB1 ... Read more >>

J Int Neuropsychol Soc (Journal of the International Neuropsychological Society : JINS)
[2020, 26(3):294-302]

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Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene.

Gian Maria Fabrizi, Helle Høyer, Federica Taioli, Tiziana Cavallaro, Hilde Tveitan Hilmarsen, Giovanna Maddalena Squintani, Giampietro Zanette, Geir Julius Braathen,

The Tropomyosin-receptor kinase fused gene (TFG) encodes TFG which is expressed in spinal motor neurons, dorsal root ganglia and cranial nerve nuclei, and plays a role in the dynamics of the endoplasmic reticulum. Two dominant missense TFG mutations have previously been reported in limited geographical areas (Far East, Iran, China) ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2020, :]

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Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.

Natalie Forrester, Rohini Rattihalli, Rita Horvath, Lorenzo Maggi, Adnan Manzur, Geraint Fuller, Nicholas Gutowski, Julia Rankin, David Dick, Christopher Buxton, Mark Greenslade, Anirban Majumdar,

Pathogenic variants in the Glycyl-tRNA synthetase gene cause the allelic disorders Charcot-Marie-Tooth disease type 2D and distal hereditary motor neuropathy type V. We describe clinical features in 8 unrelated patients found to have Glycyl-tRNA synthetase variants by Next Generation Sequencing. In addition to upper limb predominant symptoms, other presentations included ... Read more >>

J Neuromuscul Dis (Journal of neuromuscular diseases)
[2020, 7(2):137-143]

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Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next.

Kathryn H Morelli, Courtney L Hatton, Scott Q Harper, Robert W Burgess,

Nearly one-hundred loci in the human genome have been associated with different forms of Charcot-Marie-Tooth disease (CMT) and related inherited neuropathies. Despite this wealth of gene targets, treatment options are still extremely limited, and clear "druggable" pathways are not obvious for many of these mutations. However, recent advances in gene ... Read more >>

Brain Res. (Brain research)
[2020, 1732:146683]

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A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.

Vera Fridman, Stefan Sillau, Gyula Acsadi, Chelsea Bacon, Kimberly Dooley, Joshua Burns, John Day, Shawna Feely, Richard S Finkel, Tiffany Grider, Laurie Gutmann, David N Herrmann, Callyn A Kirk, Sarrah A Knause, Matilde Laurá, Richard A Lewis, Jun Li, Thomas E Lloyd, Isabella Moroni, Francesco Muntoni, Emanuela Pagliano, Chiara Pisciotta, Giuseppe Piscosquito, Sindhu Ramchandren, Mario Saporta, Reza Sadjadi, Rosemary R Shy, Carly E Siskind, Charlotte J Sumner, David Walk, Janel Wilcox, Sabrina W Yum, Stephan Züchner, Steven S Scherer, Davide Pareyson, Mary M Reilly, Michael E Shy, ,

OBJECTIVE:To evaluate the sensitivity of Rasch analysis-based, weighted Charcot-Marie-Tooth Neuropathy and Examination Scores (CMTNS-R and CMTES-R) to clinical progression in patients with Charcot-Marie-Tooth disease type 1A (CMT1A). METHODS:Patients with CMT1A from 18 sites of the Inherited Neuropathies Consortium were evaluated between 2009 and 2018. Weighted CMTNS and CMTES modified category ... Read more >>

Neurology (Neurology)
[2020, 94(9):e884-e896]

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Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice.

Ji-Su Lee, Jae Y Lee, Dong W Song, Hee S Bae, Hyun M Doo, Ho S Yu, Kyu J Lee, Hee K Kim, Hyun Hwang, Geon Kwak, Daesik Kim, Seokjoong Kim, Young B Hong, Jung M Lee, Byung-Ok Choi,

Charcot-Marie-Tooth 1A (CMT1A) is the most common inherited neuropathy without a known therapy, which is caused by a 1.4 Mb duplication on human chromosome 17, which includes the gene encoding the peripheral myelin protein of 22 kDa (PMP22). Overexpressed PMP22 protein from its gene duplication is thought to cause demyelination ... Read more >>

Nucleic Acids Res. (Nucleic acids research)
[2020, 48(1):130-140]

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