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Motor Neuropathy

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https://www.readbyqxmd.com/read/28110402/muscular-atrophy-in-severe-cases-of-cubital-tunnel-syndrome-prognostic-factors-and-outcome-after-surgical-treatment
#1
Markus Bruder, Stephan Dützmann, Nourdin Rekkab, Johanna Quick, Volker Seifert, Gerhard Marquardt
BACKGROUND: Cubital tunnel syndrome (CuTS) is a frequent neuropathy, leading to sensor-motoric dysfunction. Many patients even present with muscular atrophy as a sign for severe and long-lasting nerve impairment, usually suggesting unfavourable outcome. We analysed if those patients benefit from surgical treatment on a long-term basis. METHODS: Between January 2010 and March 2015, 42 consecutive cases of CuTS with atrophy of the intrinsic hand muscles were surgically treated in our department...
January 21, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28108290/pmp22-mutant-allele-specific-sirna-alleviates-demyelinating-neuropathic-phenotype-in-vivo
#2
Ji-Su Lee, Eun Hyuk Chang, Ok Jae Koo, Dong Hwan Jwa, Won Min Mo, Geon Kwak, Hyo Won Moon, Hwan Tae Park, Young Bin Hong, Byung-Ok Choi
Charcot-Marie-Tooth disease (CMT) is a genetic disorder that can be caused by aberrations in >80 genes. CMT has heterogeneous modes of inheritance, including autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive. Over 95% of cases are dominantly inherited. In this study, we investigated whether regulation of a mutant allele by an allele-specific small interfering RNA (siRNA) can alleviate the demyelinating neuropathic phenotype of CMT. We designed 19 different allele-specific siRNAs for Trembler J (Tr-J) mice harboring a naturally occurring mutation (Leu16Pro) in Pmp22...
January 17, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28102815/assessment-of-the-characteristics-and-quality-of-life-of-patients-with-uremic-peripheral-neuropathy%C3%A2
#3
Xiu-Zhi Yu, Shi Lu, Wei Gou, Wei Wang, Shui-Hong Zou, Yin-Xia Han, Wei-Wei Wang, Jin-Yuan Zhang
OBJECTIVES: This study seeks to examine the characteristics and health-related quality of life (HRQL) of patients with uremic peripheral neuropathy. METHODS: Uremic patients undergoing maintenance hemodialysis (MHD) at our hospital were enrolled in this study. Data collection began in January 2011 and ended in June 2011. The patients were divided into two groups, the lesion group (110 cases) and the non-lesion group (168 cases), based on the presence or absence of peripheral neuropathy...
January 19, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28091420/compound-heterozygote-mutation-of-c12orf65-causes-distal-motor-neuropathy-and-optic-atrophy
#4
Xiao-Jing Fang, Wei Zhang, He Lyu, Zhao-Xia Wang, Wei-Wei Wang, Yun Yuan
No abstract text is available yet for this article.
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28089807/ultrasonography-detects-ulnar-nerve-dislocation-despite-normal-electrophysiology-and-magnetic-resonance-imaging
#5
Jared M Pisapia, Zarina S Ali, Eric D Hudgins, Viviane Khoury, Gregory G Heuer, Eric L Zager
BACKGROUND: Dislocation of the ulnar nerve (UN) occurs in a subset of patients with ulnar neuropathy. Electrodiagnostic and magnetic resonance imaging (MRI) studies are performed to support the clinical diagnosis. We report the case of a patient with ulnar neuropathy with normal electrodiagnostic and MRI studies but with ultrasound (US) showing UN dislocation, which prompted successful treatment by UN submuscular transposition. CASE DESCRIPTION: A healthy 15 year-old female softball player presented with right medial elbow pain and paresthesias of the fourth and fifth digits...
January 12, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28077174/mutant-hspb1-causes-loss-of-translational-repression-by-binding-to-pcbp1-an-rna-binding-protein-with-a-possible-role-in-neurodegenerative-disease
#6
Thomas Geuens, Vicky De Winter, Nicholas Rajan, Tilmann Achsel, Ligia Mateiu, Leonardo Almeida-Souza, Bob Asselbergh, Delphine Bouhy, Michaela Auer-Grumbach, Claudia Bagni, Vincent Timmerman
The small heat shock protein HSPB1 (Hsp27) is an ubiquitously expressed molecular chaperone able to regulate various cellular functions like actin dynamics, oxidative stress regulation and anti-apoptosis. So far disease causing mutations in HSPB1 have been associated with neurodegenerative diseases such as distal hereditary motor neuropathy, Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis. Most mutations in HSPB1 target its highly conserved α-crystallin domain, while other mutations affect the C- or N-terminal regions or its promotor...
January 11, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28071741/loss-of-coupling-distinguishes-gjb1-mutations-associated-with-cns-manifestations-of-cmt1x-from-those-without-cns-manifestations
#7
Charles K Abrams, Mikhail Goman, Sarah Wong, Steven S Scherer, Kleopas A Kleopa, Alejandro Peinado, Mona M Freidin
CMT1X, an X-linked inherited neuropathy, is caused by mutations in GJB1, which codes for Cx32, a gap junction protein expressed by Schwann cells and oligodendrocytes. Many GJB1 mutations cause central nervous system (CNS) abnormality in males, including stable subclinical signs and, less often, short-duration episodes characterized by motor difficulties and altered consciousness. However, some mutations have no apparent CNS effects. What distinguishes mutations with and without CNS manifestations has been unclear...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28070599/organophosphate-neurotoxicity-to-the-voluntary-motor-system-on-the-trail-of-environment-caused-amyotrophic-lateral-sclerosis-the-known-the-misknown-and-the-unknown
#8
Samantha J Merwin, Teresa Obis, Yanelli Nunez, Diane B Re
Amyotrophic lateral sclerosis (ALS) is the most common adult-onset paralytic disorder. It is characterized by progressive degeneration of the motor neurons controlling voluntary movement. The underlying mechanisms remain elusive, a fact that has precluded development of effective treatments. ALS presents as a sporadic condition 90-95% of the time, i.e., without familial history or obvious genetic mutation. This suggests that ALS has a strong environmental component. Organophosphates (OPs) are prime candidate neurotoxicants in the etiology of ALS, as exposure to OPs was linked to higher ALS incidence among farmers, soccer players, and Gulf War veterans...
January 9, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28067622/a-homozygous-fitm2-mutation-causes-a-deafness-dystonia-syndrome-with-motor-regression-and-signs-of-ichthyosis-and-sensory-neuropathy
#9
Celia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P van de Warrenburg, Chiea Chuen Khor, Martin C Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals...
December 15, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28063088/mosaicism-for-a-pathogenic-mfn2-mutation-causes-minimal-clinical-features-of-cmt2a-in-the-parent-of-a-severely-affected-child
#10
Katherine Schon, Olivera Spasic-Boskovic, Kim Brugger, Tracey D Graves, Stephen Abbs, Soo-Mi Park, Gautam Ambegaonkar, Ruth Armstrong
Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall prevalence is 1 in 2500 individuals. Mutations in the MFN2 gene are the commonest cause for the axonal (CMT2) type. We describe a Caucasian 5-year old girl affected by CMT2A since the age of 2 years. She presented with unsteady gait, in-turning of the feet and progressive foot deformities. Nerve conduction studies suggested an axonal neuropathy and molecular testing identified a previously reported pathogenic variant c...
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/28051077/fig4-variants-in-central-european-patients-with-amyotrophic-lateral-sclerosis-a-whole-exome-and-targeted-sequencing-study
#11
Alma Osmanovic, Isolde Rangnau, Anne Kosfeld, Susanne Abdulla, Claas Janssen, Bernd Auber, Peter Raab, Matthias Preller, Susanne Petri, Ruthild G Weber
We aimed to identify the genetic cause of the devastating neurodegenerative disease amyotrophic lateral sclerosis (ALS) in a German family with two affected individuals, and to assess the prevalence of variants in the identified risk gene, FIG4, in a central European ALS cohort. Whole-exome sequencing (WES) and an overlapping data analysis strategy were performed in an ALS family with autosomal dominant inheritance and incomplete penetrance. Additionally, 200 central European ALS patients were analyzed using whole-exome or targeted sequencing...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28039894/exome-sequencing-establishes-a-gelsolin-mutation-as-the-cause-of-inherited-bulbar-onset-neuropathy
#12
James B Caress, Janel O Johnson, Yevgeniya A Abramzon, Gregory A Hawkins, J Raphael Gibbs, Elizabeth A Sullivan, Chamanpreet S Chahal, Bryan J Traynor
INTRODUCTION: Progressive bulbar motor neuropathy is primarily caused by bulbar-onset ALS. Hereditary amyloidosis type IV also presents with a bulbar neuropathy that mimicks motor neuron disease. The disease is prevalent in Finland only and is not commonly included in the differential diagnosis of ALS. METHODS: We studied 18 members of a family in which some had bulbar motor neuropathy, and we performed exome sequencing. RESULTS: Five affected family members were found to have a D187Y substitution in the GSN gene known to cause hereditary amyloidosis type IV...
December 31, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/28033318/a-point-mutation-in-a-lincrna-upstream-of-gdnf-is-associated-to-a-canine-insensitivity-to-pain-a-spontaneous-model-for-human-sensory-neuropathies
#13
Jocelyn Plassais, Laetitia Lagoutte, Solenne Correard, Manon Paradis, Eric Guaguère, Benoit Hédan, Alix Pommier, Nadine Botherel, Marie-Christine Cadiergues, Philippe Pilorge, David Silversides, Maud Bizot, Mark Samuels, Carme Arnan, Rory Johnson, Christophe Hitte, Gilles Salbert, Agnès Méreau, Pascale Quignon, Thomas Derrien, Catherine André
Human Hereditary Sensory Autonomic Neuropathies (HSANs) are characterized by insensitivity to pain, sometimes combined with self-mutilation. Strikingly, several sporting dog breeds are particularly affected by such neuropathies. Clinical signs appear in young puppies and consist of acral analgesia, with or without sudden intense licking, biting and severe self-mutilation of the feet, whereas proprioception, motor abilities and spinal reflexes remain intact. Through a Genome Wide Association Study (GWAS) with 24 affected and 30 unaffected sporting dogs using the Canine HD 170K SNP array (Illumina), we identified a 1...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/28031292/protein-kinase-ck2-modulates-hsj1-function-through-phosphorylation-of-the-uim2-domain
#14
Daniele Ottaviani, Oriano Marin, Giorgio Arrigoni, Cinzia Franchin, Jordi Vilardell, Michele Sandre, Wenwen Li, David A Parfitt, Lorenzo A Pinna, Michael E Cheetham, Maria Ruzzene
HSJ1 (DNAJB2), a member of the DNAJ family of molecular chaperones, is a key player in neuronal proteostasis maintenance. It binds ubiquitylated proteins through its Ubiquitin Interacting Motifs (UIMs) and facilitates their delivery to the proteasome for degradation. Mutations in the DNAJB2 gene lead to inherited neuropathies such as Charcot-Marie-Tooth type-2, distal hereditary motor neuropathies, spinal muscular atrophy with parkinsonism and the later stages can resemble amyotrophic lateral sclerosis. HSJ1 overexpression can reduce aggregation of neurodegeneration-associated proteins in vitro and in vivo; however, the regulation of HSJ1 function is little understood...
December 28, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28025409/a-case-of-acute-autonomic-and-sensory-neuropathy-aasn-with-antibody-against-a-mixture-of-galactocerebroside-and-phospholipids
#15
Teruyuki Ishikura, Kazushiro Takata, Makoto Kinoshita, Kei Fukada, Jinichi Sawada, Takanori Hazama
A 62-year-old woman presented with paresthesia of limbs, gait disturbance, urinary retention and constipation following upper respiratory infection. Neurological examination revealed gait disturbance due to loss of position sense in her extremities with intact muscle power, and autonomic failure represented by orthostatic hypotension, constipation and autonomic bladder. Cerebrospinal fluid analysis showed normal cell counts with elevated protein levels. Nerve conduction study showed sensory nerve impairment with almost normal motor nerve conduction in her upper and lower extremities...
December 23, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28025096/early-vs-late-intervention-of-high-fat-low-dose-streptozotocin-treated-c57bl-6j-mice-with-enalapril-%C3%AE-lipoic-acid-menhaden-oil-or-their-combination-effect-on-diabetic-neuropathy-related-endpoints
#16
Matthew S Yorek, Alexander Obrosov, Hanna Shevalye, Lawrence J Coppey, Randy H Kardon, Mark A Yorek
We have previously demonstrated that enalapril, α-lipoic acid and menhaden (fish) oil has potential as a treatment for diabetic peripheral neuropathy. In this study we sought to determine the efficacy of these treatments individually or in combination on multiple neuropathic endpoints in a high fat fed low dose streptozotocin treated mouse, a model of type 2 diabetes, following early or late intervention. Four or twelve weeks after the onset of hyperglycemia, diabetic mice were treated with enalapril, α-lipoic acid, menhaden oil or their combination for 12 weeks...
December 23, 2016: Neuropharmacology
https://www.readbyqxmd.com/read/28018906/chaperonopathies-spotlight-on-hereditary-motor-neuropathies
#17
REVIEW
Vincenzo Lupo, Carmen Aguado, Erwin Knecht, Carmen Espinós
Distal hereditary motor neuropathies (dHMN) are a group of rare hereditary neuromuscular disorders characterized by an atrophy that affects peroneal muscles in the absence of sensory symptoms. To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three members of the small heat shock protein family. While around 30 different mutations in HSPB1 have been identified, the remaining three genes are altered in many fewer cases...
2016: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/28018685/coexistence-of-factor-vii-deficiency-and-hereditary-spastic-paraplegia-in-two-siblings
#18
Hortensia De la Corte-Rodriguez, E Carlos Rodriguez-Merchan, M Teresa Alvarez-Roman, Ana L Hernandez-Moreno
We present the case of two patients aged 12 years and 7 years who were referred to our hospital for factor VII deficiency inherited in an autosomal recessive pattern, who had suffered from previous multiple joint haemarthroses. They presented with fine motor symptoms and difficulty in walking. During physical examination we observed neurological symptoms (general hypotonia, muscular hypotrophy, exaggerated tendon reflexes, pes cavus, and spastic gait). Given that the symptoms were not justified by the deficiency of coagulation factor VII and on suspicion of hereditary spastic paraplegia (HSP), tests were carried out...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/28017218/clinical-characteristics-and-impairment-and-disability-scale-scores-for-different-cidp-disease-activity-status-classes
#19
Majed Alabdali, Alon Abraham, Abdulla Alsulaiman, Ari Breiner, Carolina Barnett, Hans D Katzberg, Leif E Lovblom, Bruce A Perkins, Vera Bril
INTRODUCTION: Selecting proper outcome measures is important for clinical practice and clinical studies assessing treatable neuropathies, such as chronic inflammatory demyelinating polyneuropathy (CIDP). OBJECTIVES: To explore clinical characteristics and impairment and disability scores in CIDP patients, and assess their relationship to different CIDP Disease Activity Status (CDAS) classes. METHODS: We performed a retrospective chart review of CIDP patients attending the neuromuscular clinic between January 2014 and December 2015, and explored clinical characteristics, and various impairment and disability scores for different CDAS classes...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28010677/cochlear-implantation-in-chronic-demyelinating-inflammatory-polyneuropathy
#20
Sarah E Mowry, Sarah King
OBJECTIVE: To describe a case of chronic inflammatory demyelinating polyneuropathy (CDIP) with bilateral sudden sensorineural hearing loss who subsequently benefited from unilateral cochlear implantation. METHODS: case history review and review of the literature for the terms CDIP, hearing loss, cochleovestibular dysfunction, and cochlear implantation. RESULTS: A 49-year-old woman presented with bilateral rapidly progressive sensorineural hearing loss (SNHL) 1 month after an upper respiratory tract infection...
December 23, 2016: Cochlear Implants International
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