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Motor Neuropathy

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https://www.readbyqxmd.com/read/28736206/bpag1-in-muscles-structure-and-function-in-skeletal-cardiac-and-smooth-muscle
#1
REVIEW
Masao Horie, Nozomu Yoshioka, Hirohide Takebayashi
BPAG1, also known as Dystonin or BP230, belongs to the plakin family of proteins, which has multiple cytoskeleton-binding domains. Several BPAG1 isoforms are produced by a single BPAG1 genomic locus using different promoters and exons. For example, BPAG1a, BPAG1b, and BPAG1e are predominantly expressed in the nervous system, muscle, and skin, respectively. Among BPAG1 isoforms, BPAG1e is well studied because it was first identified as an autoantigen in patients with bullous pemphigoid, an autoimmune skin disease...
July 20, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28734998/oxidative-stress-with-tau-hyperphosphorylation-in-memory-impaired-1-2-diacetylbenzene-treated-mice
#2
Sin-Woo Kang, Sung Jin Kim, Min-Sun Kim
Long-term exposure to organic solvent may be related to the incidence of neuronal diseases, such as, Alzheimer's disease, depression, multiple sclerosis, dementia, Parkinson's disease. Previously, the authors reported 1,2-diacetylbenzene (DAB; a neurotoxic metabolite of 1,2-diethylbenzene) causes central and peripheral neuropathies that lead to motor neuronal deficits. Furthermore, it is known DAB increases oxidative stress and protein adduct levels and impairs hippocampal neurogenesis in mice. The authors examined the relevance of oxidative stress and tau hyperphosphorylation in the hippocampus...
July 19, 2017: Toxicology Letters
https://www.readbyqxmd.com/read/28722694/early-life-vincristine-exposure-evokes-mechanical-pain-hypersensitivity-in-the-developing-rat
#3
Katie A Schappacher, Lauren Styczynski, Mark L Baccei
Vincristine (VNC) is commonly used to treat pediatric cancers, including the most prevalent childhood malignancy, acute lymphoblastic leukemia. Although clinical evidence suggests that VNC causes peripheral neuropathy in children, the degree to which pediatric chemotherapeutic regimens influence pain sensitivity throughout life remains unclear, in part because of the lack of an established animal model of chemotherapy-induced neuropathic pain during early life. Therefore, this study investigated the effects of VNC exposure between postnatal days (P) 11 and 21 on mechanical and thermal pain sensitivity in the developing rat...
May 30, 2017: Pain
https://www.readbyqxmd.com/read/28717088/long-term-effects-of-intravenous-cyclophosphamide-in-combination-with-mesna-provided-intravenously-and-via-bladder-perfusion-in-a-patient-with-severe-multifocal-motor-neuropathy
#4
Eri Iwasawa, Takuya Ohkubo, Tadashi Kanouchi, Takashi Kanda, Hidehiro Mizusawa, Takanori Yokota
A 25-year-old woman presenting with progressive muscle weakness in the distal extremities in the absence of sensory involvement for 2 years was diagnosed with multifocal motor neuropathy (MMN). Her disease was difficult to manage with various immunosuppressants, and the muscle weakness eventually progressed to involve the respiratory muscles, necessitating mechanical ventilation. Intravenous cyclophosphamide (CY) dramatically improved her symptoms, and she has since maintained her ambulatory status for 18 years with intermittent CY therapy...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28716587/botulinum-neurotoxin-a-promotes-functional-recovery-after-peripheral-nerve-injury-by-increasing-regeneration-of-myelinated-fibers
#5
Stefano Cobianchi, Jessica Jaramillo, Siro Luvisetto, Flaminia Pavone, Xavier Navarro
The injection of safe doses of botulinum neurotoxin A (BoNT/A) have been reported to be useful for the treatment of neuropathic pain, but it is still unknown how functional recovery is induced after peripheral nerve injury. We evaluated the effects of intranerve application of BoNT/A, on regeneration and sensorimotor functional recovery in partial and complete peripheral nerve injuries in the mouse. After sciatic nerve crush (SNC) and intranerve delivery of BoNT/A (15pg), axonal regeneration was measured by nerve pinch test at different days...
July 14, 2017: Neuroscience
https://www.readbyqxmd.com/read/28715803/antinociceptive-effects-of-isosakuranetin-in-a-rat-model-of-peripheral-neuropathy
#6
Shushan Jia, Yong Zhang, Jingui Yu
Chronic pain remains a challenging clinical reality, yet currently available analgesics are insufficient to meet clinical needs. Increasing attention has been paid to bioactive compounds from natural plants, which may be efficacious against pain. This study examined the antinociceptive effects of isosakuranetin, a plant-derived transient receptor potential melastatin 3 blocker, in a rat model of peripheral neuropathy. Adult male Sprague-Dawley rats were first allowed to go through the chronic constriction injury surgery to develop neuropathic pain...
July 18, 2017: Pharmacology
https://www.readbyqxmd.com/read/28709447/cryptic-amyloidogenic-elements-in-mutant-nefh-causing-charcot-marie-tooth-2-trigger-aggresome-formation-and-neuronal-death
#7
Arnaud Jacquier, Cécile Delorme, Edwige Belotti, Raoul Juntas-Morales, Guilhem Solé, Odile Dubourg, Marianne Giroux, Claude-Alain Maurage, Valérie Castellani, Adriana Rebelo, Alexander Abrams, Stephan Züchner, Tanya Stojkovic, Laurent Schaeffer, Philippe Latour
Neurofilament heavy chain (NEFH) gene was recently identified to cause autosomal dominant axonal Charcot-Marie-Tooth disease (CMT2cc). However, the clinical spectrum of this condition and the physio-pathological pathway remain to be delineated. We report 12 patients from two French families with axonal dominantly inherited form of CMT caused by two new mutations in the NEFH gene. A remarkable feature was the early involvement of proximal muscles of the lower limbs associated with pyramidal signs in some patients...
July 14, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28708278/whole-exome-sequencing-is-a-valuable-diagnostic-tool-for-inherited-peripheral-neuropathies-outcomes-from-a-cohort-of-50-families
#8
Taila Hartley, Justin D Wagner, Jodi Warman-Chardon, Martine Tétreault, Lauren Brady, Steven Baker, Mark Tarnopolsky, Pierre R Bourque, Jillian S Parboosingh, Christopher Smith, Brenda McInnes, A Micheil Innes, Francois Bernier, Cynthia J Curry, Grace Yoon, Gabriella A Horvath, Eric Bareke, Jacek Majewski, Dennis E Bulman, David A Dyment, Kym M Boycott
The inherited peripheral neuropathies (IPNs) are characterized by marked clinical and genetic heterogeneity and include relatively frequent presentations such as Charcot-Marie-Tooth disease and hereditary motor neuropathy, as well as more rare conditions where peripheral neuropathy is associated with additional features. There are over 250 genes known to cause IPN-related disorders but it is estimated that in ~50% of affected individuals a molecular diagnosis is not achieved. In this study, we examine the diagnostic utility of whole-exome sequencing (WES) in a cohort of 50 families with one or more affected individuals with a molecularly undiagnosed IPN with or without additional features...
July 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28708133/autoantibodies-in-chronic-inflammatory-neuropathies-diagnostic-and-therapeutic-implications
#9
REVIEW
Luis Querol, Jérôme Devaux, Ricard Rojas-Garcia, Isabel Illa
The chronic inflammatory neuropathies (CINs) are rare, very disabling autoimmune disorders that generally respond well to immune therapies such as intravenous immunoglobulin (IVIg). The most common forms of CIN are chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), multifocal motor neuropathy, and polyneuropathy associated with monoclonal gammopathy of unknown significance. The field of CIN has undergone a major advance with the identification of IgG4 autoantibodies directed against paranodal proteins in patients with CIDP...
July 14, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28702508/homozygous-mutation-in-hspb1-causing-distal-vacuolar-myopathy-and-motor-neuropathy
#10
Enrico Bugiardini, Alexander M Rossor, David S Lynch, Michael Swash, Alan M Pittman, Julian C Blake, Michael G Hanna, Henry Houlden, Janice L Holton, Mary M Reilly, Emma Matthews
No abstract text is available yet for this article.
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28694757/neuroprotective-effect-of-azadirachta-indica-standardized-extract-in-partial-sciatic-nerve-injury-in-rats-evidence-from-anti-inflammatory-antioxidant-and-anti-apoptotic-studies
#11
Amit D Kandhare, Anwesha A Mukherjee, Subhash L Bodhankar
Chronic neuropathic pain is a common and widely recognized pain syndrome for patients and difficult to manage for physicians. Azadirachta indica (AI) possesses analgesic, anti-inflammatory, and antioxidant properties. To evaluate the neuroprotective effect of AI standardized extract in an animal model of peripheral neuropathy induced by partial sciatic nerve ligation (PSNL). PSNL was induced in male Wistar rats (180-200 g) with tight ligation of the nerve. Rats received treatment with either vehicle i.e. distilled water (PSNL control), Pyridoxine (100 mg/kg, p...
2017: EXCLI journal
https://www.readbyqxmd.com/read/28694640/guillain-barre-syndrome-in-postpartum-period-rehabilitation-issues-and-outcome-three-case-reports
#12
Anupam Gupta, Maitreyi Patil, Meeka Khanna, Rashmi Krishnan, Arun B Taly
We report three females who developed Guillain-Barre Syndrome in postpartum period (within 6 weeks of delivery) and were admitted in the Neurological Rehabilitation Department for rehabilitation after the initial diagnosis and treatment in the Department of Neurology. The first case, axonal variant (acute motor axonal neuropathy [AMAN]) had worst presentation at the time of admission, recovered well by the time of discharge. The second case, acute motor sensory axonal neuropathy variant and the third case, AMAN variant presented at the late postpartum period...
July 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28694135/characteristics-of-pediatric-multiple-sclerosis-the-turkish-pediatric-multiple-sclerosis-database
#13
Ünsal Yılmaz, Banu Anlar, Kıvılcım Gücüyener
OBJECTIVE: To document the clinical and paraclinical features of pediatric multiple sclerosis (MS) in Turkey. METHODS: Data of MS patients with onset before age 18 years (n = 193) were collected from 27 pediatric neurology centers throughout Turkey. Earlier-onset (<12 years) and later-onset (≥12 years) groups were compared. RESULTS: There were 123 (63.7%) girls and 70 (36.3%) boys aged 4-17 years, median 14 years at disease onset. Family history of MS was 6...
June 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28687974/syne1-related-cerebellar-ataxia-presents-with-variable-phenotypes-in-a-consanguineous-family-from-turkey
#14
E Yucesan, Sibel A Ugur Iseri, B Bilgic, Z Gormez, B Bakir Gungor, A Sarac, O Ozdemir, M Sagiroglu, H Gurvit, H Hanagasi, U Ozbek
SYNE1 related autosomal recessive cerebellar ataxia type 1 (ARCA1) is a late-onset cerebellar ataxia with slow progression originally demonstrated in French-Canadian populations of Quebec, Canada. Nevertheless, recent studies on SYNE1 ataxia have conveyed the condition from a geographically limited pure cerebellar recessive ataxia to a complex multisystem phenotype that is relatively common on the global scale. To determine the underlying genetic cause of the ataxia phenotype in a consanguineous family from Turkey presenting with very slow progressive cerebellar symptoms including dysarthria, dysmetria, and gait ataxia, we performed SNP-based linkage analysis in the family along with whole exome sequencing (WES) in two affected siblings...
July 7, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28685718/clinical-characteristics-electrophysiology-and-skin-biopsy-of-38-peripheral-neuropathy-cases-with-small-fiber-involvement-of-various-etiologies
#15
Bo Sun, Li-Zhi Liu, Yi-Fan Li, Zhao-Hui Chen, Li Ling, Fei Yang, Fang Cui, Xu-Sheng Huang
BACKGROUND: In small fiber neuropathy (SFN), thinly myelinated Aδ and unmyelinated C fibers are primarily affected, resulting in sensory and/or autonomic symptoms. Various etiologies have been shown to be associated with SFN. This study was aimed to analyze a variety of features in peripheral neuropathy (PN) with small fiber involvement, and to compare disease severity among patients with idiopathic PN, PN associated with impaired glucose tolerance (IGT), and metabolic syndrome (MS) PN...
July 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28685493/peripheral-neuropathy-episodic-rhabdomyolysis-and-hypoparathyroidism-in-a-patient-with-mitochondrial-trifunctional-protein-deficiency
#16
Peter van Vliet, Annelies E Berden, Mojca K M van Schie, Jaap A Bakker, Christian Heringhaus, Irenaeus F M de Coo, Mirjam Langeveld, Marielle A Schroijen, M Sesmu Arbous
A combination of unexplained peripheral neuropathy, hypoparathyroidism, and the inability to cope with metabolic stress could point to a rare inborn error of metabolism, such as mitochondrial trifunctional protein (MTP) deficiency.Here, we describe a 20-year-old woman who was known since childhood with axonal motor sensory polyneuropathy of unknown origin. She presented with progressive dyspnoea, and increased muscle weakness, preceded by 6 days of fever, vomiting, and diarrhoea. Laboratory testing showed rhabdomyolysis, and hypocalcaemia with low parathyroid levels...
July 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28682959/paraneoplastic-neuropathies
#17
Jean-Christophe Antoine, Jean-Philippe Camdessanché
PURPOSE OF REVIEW: To review recent advances in paraneoplastic neuropathies with emphasis on their definition, different forms and therapeutic development. RECENT FINDINGS: A strict definition of definite paraneoplastic neuropathies is necessary to avoid confusion. With carcinoma, seronegative sensory neuronopathies and neuronopathies and anti-Hu and anti-CV2/Contactin Response Mediator Protein 5 antibodies are the most frequent. With lymphomas, most neuropathies occur with monoclonal gammopathy including AL amyloidosis, Polyneuropathy-Organomegaly-Endocrinopathy-M component-Skin changes (POEMS) syndrome, type I cryoglobulinemia and antimyelin-associated glycoprotein (MAG) neuropathies and Waldenström's disease...
July 5, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28681489/nerve-ultrasound-as-follow-up-tool-in-treated-multifocal-motor-neuropathy
#18
T W Rattay, N Winter, B F Décard, N M Dammeier, F Härtig, M Ceanga, H Axer, A Grimm
BACKGROUND AND PURPOSE: High-resolution ultrasound is a valuable tool in supporting the diagnosis of multifocal motor neuropathy (MMN) but longitudinal data under therapy are lacking. METHODS: The change in peripheral nerve ultrasound pattern in patients with MMN was assessed over time. Patients with MMN received a thorough initial examination and follow-up over a period of 6-12 months using high-resolution ultrasound of the cervical roots and the nerves of the arms and legs, nerve conduction studies, Medical Research Council Sum Score (MRCSS) and Rotterdam Inflammatory Neuropathy Cause and Treatment Group (INCAT) score to evaluate changes under treatment...
July 5, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28680965/a-brain-derived-neurotrophic-factor-based-p75-ntr-peptide-mimetic-ameliorates-experimental-autoimmune-neuritis-induced-axonal-pathology-and-demyelination
#19
David G Gonsalvez, Giang Tran, Jessica L Fletcher, Richard A Hughes, Suzanne Hodgkinson, Rhiannon J Wood, Sang Won Yoo, Mithraka De Silva, Wong W Agnes, Catriona McLean, Paul Kennedy, Trevor J Kilpatrick, Simon S Murray, Junhua Xiao
Axonal damage and demyelination are major determinants of disability in patients with peripheral demyelinating neuropathies. The neurotrophin family of growth factors are essential for the normal development and myelination of the peripheral nervous system (PNS), and as such are potential therapeutic candidates for ameliorating axonal and myelin damage. In particular, BDNF promotes peripheral nerve myelination via p75 neurotrophin receptor (p75(NTR)) receptors. Here, we investigated the therapeutic efficacy of a small structural mimetic of the region of BDNF that binds to p75(NTR) (cyclo-dPAKKR) in experimental autoimmune neuritis (EAN), an established animal model of peripheral demyelinating neuropathy...
May 2017: ENeuro
https://www.readbyqxmd.com/read/28680400/a-novel-small-molecule-gdnf-receptor-ret-agonist-bt13-promotes-neurite-growth-from-sensory-neurons-in-vitro-and-attenuates-experimental-neuropathy-in-the-rat
#20
Yulia A Sidorova, Maxim M Bespalov, Agnes W Wong, Oleg Kambur, Viljami Jokinen, Tuomas O Lilius, Ilida Suleymanova, Gunnar Karelson, Pekka V Rauhala, Mati Karelson, Peregrine B Osborne, Janet R Keast, Eija A Kalso, Mart Saarma
Neuropathic pain caused by nerve damage is a common and severe class of chronic pain. Disease-modifying clinical therapies are needed as current treatments typically provide only symptomatic relief; show varying clinical efficacy; and most have significant adverse effects. One approach is targeting either neurotrophic factors or their receptors that normalize sensory neuron function and stimulate regeneration after nerve damage. Two candidate targets are glial cell line-derived neurotrophic factor (GDNF) and artemin (ARTN), as these GDNF family ligands (GFLs) show efficacy in animal models of neuropathic pain (Boucher et al...
2017: Frontiers in Pharmacology
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