keyword
MENU ▼
Read by QxMD icon Read
search

Motor Neuropathy

keyword
https://www.readbyqxmd.com/read/29351809/axonal-transport-in-a-peripheral-diabetic-neuropathy-model-sex-dimorphic-features
#1
Marzia Pesaresi, Silvia Giatti, Roberto Spezzano, Simone Romano, Silvia Diviccaro, Tiziana Borsello, Nico Mitro, Donatella Caruso, Luis Miguel Garcia-Segura, Roberto Cosimo Melcangi
BACKGROUND: Disruption of axonal transport plays a pivotal role in diabetic neuropathy. A sex-dimorphism exists in the incidence and symptomatology of diabetic neuropathy; however, no studies so far have addressed sex differences in axonal motor proteins expression in early diabetes as well as the possible involvement of neuroactive steroids. Interestingly, recent data point to a role for mitochondria in the sexual dimorphism of neurodegenerative diseases. Mitochondria have a fundamental role in axonal transport by producing the motors' energy source, ATP...
January 19, 2018: Biology of Sex Differences
https://www.readbyqxmd.com/read/29351582/sco2-mutations-cause-early-onset-axonal-charcot-marie-tooth-disease-associated-with-cellular-copper-deficiency
#2
Adriana P Rebelo, Dimah Saade, Claudia P Pereira, Amjad Farooq, Tyler C Huff, Lisa Abreu, Carlos T Moraes, Diana Mnatsakanova, Kathy Mathews, Hua Yang, Eric A Schon, Stephan Zuchner, Michael E Shy
Recessive mutations in the mitochondrial copper-binding protein SCO2, cytochrome c oxidase (COX) assembly protein, have been reported in several cases with fatal infantile cardioencephalomyopathy with COX deficiency. Significantly expanding the known phenotypic spectrum, we identified compound heterozygous variants in SCO2 in two unrelated patients with axonal polyneuropathy, also known as Charcot-Marie-Tooth disease type 4. Different from previously described cases, our patients developed predominantly motor neuropathy, they survived infancy, and they have not yet developed the cardiomyopathy that causes death in early infancy in reported patients...
January 16, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29343286/diagnosis-and-management-of-transthyretin-familial-amyloid-polyneuropathy-in-japan-red-flag-symptom-clusters-and-treatment-algorithm
#3
REVIEW
Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage. TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms...
January 17, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29341362/a-novel-mutation-of-lrsam1-in-a-chinese-family-with-charcot-marie-tooth-disease
#4
Guohua Zhao, Jie Song, Mi Yang, Xiuhua Song, Xiaomin Liu
Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy characterized by progressive distal muscle weakness and atrophy with decreased or absent tendon reflexes. Mutations in LRSAM1 have been identified to cause CMT disease type 2P. We report a novel LRSAM1 mutation c.2021-2024del (p.E674VfsX11) in a Chinese autosomal dominant CMT disease type 2 family. The phenotype was characterized by late onset and mild sensory impairment. Electrophysiological findings showed normal or mildly to moderately reduced motor and sensory nerve conduction velocities in lower and upper limb nerves...
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29341343/small-heat-shock-protein-b3-hspb3-mutation-in-an-axonal-charcot-marie-tooth-disease-family
#5
Da Eun Nam, Soo Hyun Nam, Ah Jin Lee, Young Bin Hong, Byung-Ok Choi, Ki Wha Chung
HSPB3 gene encodes a small heat-shock protein 27-like protein which has a high sequence homology with HSPB1. A mutation in the HSPB3 was reported as the putative underlying cause of distal hereditary motor neuropathy 2C (dHMN2C) in 2010. We identified a heterozygous mutation (c.352T>C, p.Tyr118His) in the HSPB3 from a Charcot-Marie-Tooth disease type 2 (CMT2) family by the method of targeted next generation sequencing. The mutation was located in the well conserved alpha-crystalline domain, and several in silico predictions indicated a pathogenic effect of the mutation...
January 17, 2018: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/29337417/guillain-barr%C3%A3-syndrome-in-a-local-area-in-japan-2006-2015-an-epidemiological-and-clinical-study-of-108-patients
#6
Naoko Matsui, Hiroyuki Nodera, Daisuke Kuzume, Naoki Iwasa, Yuki Unai, Waka Sakai, Yoshimichi Miyazaki, Hiroki Yamazaki, Yusuke Osaki, Takahiro Furukawa, Masahiro Yamasaki, Yuishin Izumi, Susumu Kusunoki, Kokichi Arisawa, Ryuji Kaji
BACKGROUND: Many epidemiological studies of Guillain-Barré syndrome (GBS) and Fisher syndrome (FS) have been conducted in Europe and America. In contrast, epidemiological studies are rare in Asia where the GBS subtypes differ from those in Western countries. This study was undertaken to clarify the incidence of GBS and FS in a local area in Japan as well as their seasonal trends. METHODS: Seventy-one GBS and 37 FS patients were recorded from 2006 to 2015 in an area of approximately 1...
January 16, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29330367/characterization-of-human-small-heat-shock-protein-hspb1-%C3%AE-crystallin-domain-localized-mutants-associated-with-hereditary-motor-neuron-diseases
#7
Stephen D Weeks, Lydia K Muranova, Michelle Heirbaut, Steven Beelen, Sergei V Strelkov, Nikolai B Gusev
Congenital mutations in human small heat shock protein HSPB1 (HSP27) have been linked to Charcot-Marie-Tooth disease, a commonly occurring peripheral neuropathy. Understanding the molecular mechanism of such mutations is indispensable towards developing future therapies for this currently incurable disorder. Here we describe the physico-chemical properties of the autosomal dominant HSPB1 mutants R127W, S135F and R136W. Despite having a nominal effect on thermal stability, the three mutations induce dramatic changes to quaternary structure...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29329103/analysis-of-anti-ganglioside-antibodies-by-a-line-immunoassay-in-patients-with-chronic-inflammatory-demyelinating-polyneuropathies-cidp
#8
Juliane Klehmet, Stefanie Märschenz, Klemens Ruprecht, Benjamin Wunderlich, Thomas Büttner, Rico Hiemann, Dirk Roggenbuck, Andreas Meisel
BACKGROUND: Unlike for acute immune-mediated neuropathies (IN), anti-ganglioside autoantibody (aGAAb) testing has been recommended for only a minority of chronic IN yet. Thus, we used a multiplex semi-quantitative line immunoassay (LIA) to search for aGAAb in chronic-inflammatory demyelinating polyneuropathy (CIDP) and its clinical variants. METHODS: Anti-GAAb to 11 gangliosides and sulfatide (SF) were investigated by LIA in 61 patients with IN (27 typical CIDP, 12 distal-acquired demyelinating polyneuropathy, 6 multifocal-acquired demyelinating sensory/motor polyneuropathy, 10 sensory CIDP, 1 focal CIDP and 5 multifocal-motoric neuropathy), 40 with other neuromuscular disorders (OND) (15 non-immune polyneuropathies, 25 myasthenia gravis), 29 with multiple sclerosis (MS) and 54 healthy controls (HC)...
January 12, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29326294/guillain-barr%C3%A3-syndrome-in-southern-china-retrospective-analysis-of-hospitalised-patients-from-14-provinces-in-the-area-south-of-the-huaihe-river
#9
Shuping Liu, Zheman Xiao, Min Lou, Fang Ji, Bei Shao, Hongyuan Dai, Can Luo, Bo Hu, Ruiling Zhou, Zhangyu Zou, Jing Li, Xiaoyi Li, Jun Xu, Fan Hu, Chao Qin, Lian Wang, Tao Liu, Runtao Bai, Yangmei Chen, Haiyan Lv, Ruxu Zhang, Xiaoming Wang, Yunfu Wang, Shanling Ren, Xiaoming He, Zhenwei Jiang, Huiwen Wu, Donghui Yu, Wenqiong Yang, Wenjing Luo, Daokai Gong, Bin Chen, Yin Liu, Jiajia Yao, Yujie Yang, Jingxia Guan, Mingzhen Zhu, Xiujuan Fu, Genshan Gao, Hong Zhang, Man Ding, Shanghua Fan, Qian Cao, Jingyi Lu, Zuneng Lu
OBJECTIVES: The clinical and epidemiological profiles of Guillain-Barré syndrome (GBS) in southern China have yet to be fully recognised. We aimed to investigate the subtypes of GBS in southern China, compare the clinical features of demyelinating form with that of axonal form and test whether preceding infections and age have influence on the clinical phenotype, disease course and severity of GBS. METHODS: Medical records of patients with a diagnosis of GBS admitted to 31 tertiary hospitals, located in 14 provinces in southern China, from 1 January 2013 to 30 September 2016, were collected and retrospectively reviewed...
January 11, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29325617/wilson-disease-and-related-copper-disorders
#10
Matthew T Lorincz
Copper is a required cofactor for enzymes in critical metabolic pathways. Mutations in copper metabolism genes or abnormalities in copper metabolism result in disease from copper excess or deficiency. Wilson disease (WD) is an autosomal-recessive disease caused by mutations in the ATP7B gene which encodes a copper-transporting ATPase. Over 500 different WD mutations throughout the ATP7B gene have been described, most of which are missense mutations. Mutations in both ATP7B alleles result in abnormal copper metabolism and subsequent toxic accumulation of copper...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29322226/nebivolol-a-%C3%AE-blocker-abrogates-streptozotocin-induced-behavioral-biochemical-and-neurophysiological-deficit-by-attenuating-oxidative-nitrosative-stress-a-possible-target-for-the-prevention-of-diabetic-neuropathy
#11
Naini Bhadri, Rema Razdan, Sumanta Kumar Goswami
Metabolic abnormalities including hyperglycemia, hyperlipidemia, and oxidative-nitrosative stress are involved in the progression of diabetic neuropathy. In the present study, we targeted oxidative-nitrosative stress using nebivolol, a β1-receptor antagonist with vasodilator and antioxidant property, to evaluate its neuroprotective effect in streptozotocin-induced diabetic neuropathy in rats. Diabetic neuropathy develops within 4-6 weeks after administration of streptozotocin (55 mg/kg, i.p.). Therefore, after confirmation of diabetes, subtherapeutic doses of nebivolol (1 and 2 mg/kg, p...
January 11, 2018: Naunyn-Schmiedeberg's Archives of Pharmacology
https://www.readbyqxmd.com/read/29318796/recurrent-guillain-barr%C3%A3-syndrome-following-urinary-tract-infection-by-escherichia-coli
#12
Yoon Sik Jo, Jin Yong Choi, Hong Chung, Yuseok Kim, Sang Jun Na
Recurrent Guillain-Barré syndrome (GBS) is a rare, immune-mediated disease of the peripheral nervous system. It has been reported to occur at intervals ranging from four months to 10 years; published case studies suggest that 1%-6% of patients who have had GBS will experience recurrent attacks. The most commonly identified infections coinciding with GBS are Campylobacter jejuni, Haemophilus influenzae, Mycoplasma pneumonia, and cytomegalovirus, while an antecedent infection with Escherichia coli is very uncommon...
January 22, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29316888/the-preventive-effect-of-sensorimotor-and-vibration-exercises-on-the-onset-of-oxaliplatin-or-vinca-alkaloid-induced-peripheral-neuropathies-stop
#13
Fiona Streckmann, Maryam Balke, Helmar C Lehmann, Vanessa Rustler, Christina Koliamitra, Thomas Elter, Michael Hallek, Michael Leitzmann, Tilman Steinmetz, Petra Heinen, Freerk T Baumann, Wilhelm Bloch
BACKGROUND: Chemotherapy-induced peripheral neuropathy (CIPN) is a common and clinically relevant side effect of chemotherapy. Approximately 50% of all leukemia, lymphoma, colorectal- and breast cancer patients are affected. CIPN is induced by neurotoxic chemotherapeutic agents and can manifest with sensory and/or motor deficits. It is associated with significant disability and poor recovery. Common symptoms include pain, altered sensation, reduced or absent reflexes, muscle weakness, reduced balance control and insecure gait...
January 10, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29315669/guillain-barr%C3%A3-syndrome-subtype-diagnosis-a-prospective-multicentric-european-study
#14
Peter Y K Van den Bergh, Françoise Piéret, John L Woodard, Shahram Attarian, Aude-Marie Grapperon, Guillaume Nicolas, Marion Brisset, Julien Cassereau, Yusuf A Rajabally, Vinciane Van Parijs, Donatienne Verougstraete, Philippe Jacquerye, Jean-Marc Raymackers, Céline Redant, Claure Michel, Emilien Delmont
INTRODUCTION: There is uncertainty as to whether the Guillain-Barré syndrome (GBS) subtypes, acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy (AMAN), can be diagnosed electrophysiologically. METHODS: We prospectively included 58 GBS patients. Electrophysiology was performed at means of 5 and 33 days after disease onset. Two traditional and one recent criteria sets were used to classify studies as demyelinating or axonal...
January 5, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29313588/paraneoplastic-inverse-myasthenic-syndrome-as-a-presentation-of-bronchogenic-carcinoma
#15
G S Chowdhary, Malav Jhala
Tumours may produce growth factors and cytokines responsible for signs and symptoms distant to the primary or metastatic site. This may be the first sign of a malignancy and its recognition may be critical for early cancer detection. Moreover, proper diagnosis spares the patient of extensive and expensive search for an alternate cause of the neurological dysfunction. In neurological paraneoplastic syndromes like Lambert Eaton Myasthenic syndrome associated with small cell lung cancer, evidence of autoimmunity against presynaptic neuro-muscular junction by anti voltage gated calcium channel anti bodies is well documented...
September 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29305208/vestibulo-cochlear-function-in-inflammatory-neuropathies
#16
Marisa Blanquet, Jens A Petersen, Antonella Palla, Dorothe Veraguth, Konrad P Weber, Dominik Straumann, Alexander A Tarnutzer, Hans H Jung
OBJECTIVE: We aimed to quantify peripheral-vestibular deficits that may contribute to imbalanced stance/gait in patients with inflammatory neuropathies. METHODS: Twenty-one patients (58 ± 15 y [mean age ± 1SD]; chronic-inflammatory-demyelinating-polyneuropathy = 10, Guillain-Barré Syndrome = 5, Anti-MAG peripheral neuropathy = 2, multifocal-motor-neuropathy = 4) were compared with 26 healthy controls. All subjects received video-head-impulse testing (vHIT), caloric irrigation and cervical/ocular vestibular-evoked myogenic-potentials (VEMPs)...
December 20, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29298279/severe-chronic-lithium-intoxication-in-patient-treated-for-bipolar-disorder
#17
Ivana Stetkarova, Vaclav Bocek, Alsu Gismatullina, Zuzana Svobodova, Tomas Peisker
OBJECTIVE: Lithium has been long used in psychiatry as an adjuvant treatment for bipolar disorder. Chronic lithium intoxication is very rare. DESIGN: We present the case of a 72-year-old female, treated with lithium for more than 10 years for bipolar disorder, who was admitted for gait impairment with weakness of limbs, myoclonus, speech impairment and memory disturbances. RESULTS: Diagnosis of lithium intoxication was based on clinical picture and determination of serum lithium levels...
December 4, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29277257/early-onset-axonal-charcot-marie-tooth-disease-due-to-sacs-mutation
#18
Paulo Victor Sgobbi Souza, Thiago Bortholin, Fernando George Monteiro Naylor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
Axonal Charcot-Marie-Tooth disease (CMT) represents an expanding group of inherited motor and sensory neuropathies in clinical practice. SACS-gene related disorders have been associated with complex neurological phenotypes of early-onset cerebellar ataxia, spastic-ataxia, spastic paraplegia, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure axonal neuropathy phenotypes. Two unrelated Brazilian men with early-onset axonal CMT-like presentations associated with SACS gene mutations are presented...
November 24, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29273401/effect-of-streptozotocin-induced-diabetes-on-motor-representations-in-the-motor-cortex-and-corticospinal-tract-in-rats
#19
Ken Muramatsu, Masako Ikutomo, Toru Tamaki, Satoshi Shimo, Masatoshi Niwa
Motor disorders in patients with diabetes are associated with diabetic peripheral neuropathy, which can lead to symptoms such as lower extremity weakness. However, it is unclear whether central motor system disorders can disrupt motor function in patients with diabetes. In a streptozotocin-induced rat model of type 1 diabetes, we used intracortical microstimulation to evaluate motor representations in the motor cortex, recorded antidromic motor cortex responses to spinal cord stimulation to evaluate the function of corticospinal tract (CST) axons, and used retrograde labeling to evaluate morphological alterations of CST neurons...
December 19, 2017: Brain Research
https://www.readbyqxmd.com/read/29261664/prion-protein-inhibits-fast-axonal-transport-through-a-mechanism-involving-casein-kinase-2
#20
Emiliano Zamponi, Fiamma Buratti, Gabriel Cataldi, Hector Hugo Caicedo, Yuyu Song, Lisa M Jungbauer, Mary J LaDu, Mariano Bisbal, Alfredo Lorenzo, Jiyan Ma, Pablo R Helguera, Gerardo A Morfini, Scott T Brady, Gustavo F Pigino
Prion diseases include a number of progressive neuropathies involving conformational changes in cellular prion protein (PrPc) that may be fatal sporadic, familial or infectious. Pathological evidence indicated that neurons affected in prion diseases follow a dying-back pattern of degeneration. However, specific cellular processes affected by PrPc that explain such a pattern have not yet been identified. Results from cell biological and pharmacological experiments in isolated squid axoplasm and primary cultured neurons reveal inhibition of fast axonal transport (FAT) as a novel toxic effect elicited by PrPc...
2017: PloS One
keyword
keyword
57322
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"