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Genetic neuropathies

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https://www.readbyqxmd.com/read/29775755/whole-genome-sequencing-and-bioinformatics-analysis-of-two-egyptian-genomes
#1
Mahmoud ElHefnawi, Sungwon Jeon, Youngjune Bhak, Asmaa ElFiky, Ahmed Horaiz, JeHoon Jun, Hyunho Kim, Jong Bhak
We report two Egyptian male genomes (EGP1 and EGP2) sequenced at ~ 30× sequencing depths. EGP1 had 4.7 million variants, where 198,877 were novel variants while EGP2 had 209,109 novel variants out of 4.8 million variants. The mitochondrial haplogroup of the two individuals were identified to be H7b1 and L2a1c, respectively. We also identified the Y haplogroup of EGP1 (R1b) and EGP2 (J1a2a1a2 > P58 > FGC11). EGP1 had a mutation in the NADH gene of the mitochondrial genome ND4 (m.11778 G > A) that causes Leber's hereditary optic neuropathy...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29774306/leber-s-hereditary-optic-neuropathy-lhon-in-an-apulian-cohort-of-subjects
#2
Angelica Bianco, Luigi Bisceglia, Paolo Trerotoli, Luciana Russo, Leonardo D'Agruma, Silvana Guerriero, Vittoria Petruzzella
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder that causes severe loss of sight in young adults, and is typically associated to mitochondrial DNA (mtDNA) mutations. Heteroplasmy of primary LHON mutations, presence of 'ancillary' mtDNA mutations, and mtDNA copy number are probably correlated with the penetrance and the severity of the disease. In this study, we performed a mutational screening in an Apulian cohort of LHON patients and we found that 41 out of 54 subjects harbored the m...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29773773/cuban-epidemic-neuropathy-insights-into-the-toxic-nutritional-hypothesis-through-international-collaboration
#3
Alina González-Quevedo, Rosaralis Santiesteban-Freixas, Janis T Eells, Lucimey Lima, Alfredo A Sadun
From 1991 to 1993, an epidemic of optic and peripheral neuropathy-the largest of the century-broke out in Cuba, affecting more than 50,000 people. Initially the main clinical features were decreased visual acuity, central and cecocentral scotomas, impaired color vision and absence of the papillomacular bundle. Later, peripheral and mixed optic-peripheral forms began to appear. Due to the magnitude of the epidemic, the Cuban government requested help from the international community at the 46th World Health Assembly in 1993...
April 2018: MEDICC Review
https://www.readbyqxmd.com/read/29771891/-leber-hereditary-optic-neuropathy
#4
I O Mazunin, N V Volodko
Leber hereditary optic neuropathy is characterized by bilateral, painless loss of vision in children and young adults (generally up to 25 years old). Since its first description in 1871, the understanding of its etiology and pathogenesis has improved considerably. The article considers Leber neuropathy from the points of view of ophthalmology, neurology and molecular genetics, and presents data on experimental treatment methods, one of which is undergoing clinical trial.
2018: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/29769041/cortical-atrophy-and-hypofibrinogenemia-due-to-fgg-and-tbcd-mutations-in-a-single-family-a-case-report
#5
Joshi Stephen, Sheela Nampoothiri, K P Vinayan, Dhanya Yesodharan, Preetha Remesh, William A Gahl, May Christine V Malicdan
BACKGROUND: Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of multiple pathogenic mutations, especially due to consanguinity. Hereditary fibrinogen deficiencies result from mutations in the genes FGA, FGB, and FGG, encoding the three different polypeptide chains that comprise fibrinogen. Neurodevelopmental abnormalities have not been associated with fibrinogen deficiencies. In this study, we report an unusual patient with a combination of two independently inherited genetic conditions; fibrinogen deficiency and early onset cortical atrophy...
May 16, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29764566/laminopathies-mutations-on-single-gene-and-various-human-genetic-diseases
#6
So-Mi Kang, Min-Ho Yoon, Bum-Joon Park
Lamin A and its alternative splicing product Lamin C are the key intermediate filaments (IFs) of the inner nuclear membrane intermediate filament. Lamin A/C forms the inner nuclear mesh with Lamin B and works as a frame with a nuclear shape. In addition to supporting the function of nucleus, nuclear lamins perform important roles such as holding the nuclear pore complex and chromatin. However, mutations on the Lamin A or Lamin B related proteins induce various types of human genetic disorders and diseases including premature aging syndromes, muscular dystrophy, lipodystrophy and neuropathy...
May 16, 2018: BMB Reports
https://www.readbyqxmd.com/read/29740388/central-lesions-with-selective-semicircular-canal-involvement-mimicking-bilateral-vestibulopathy
#7
REVIEW
Luke Chen, G Michael Halmagyi
Bilateral vestibulopathy (BVP), which is due to peripheral lesions, may selectively involve certain semicircular canal (SCC). Recent eye movement recordings with search coil and video head impulse test (HIT) have provided insight in central lesions that can cause bilateral and selective SCC deficit mimicking BVP. Since neurological signs or ocular motor deficits maybe subtle or absent, it is critical to recognize central lesions correctly since there is prognostic and treatment implication. Acute floccular lesions cause bilateral horizontal SCC (HC) impairment while leaving vertical SCC function unaffected...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29736170/susceptible-and-prognostic-genetic-factors-associated-with-diabetic-peripheral-neuropathy-a-comprehensive-literature-review
#8
REVIEW
L B L Prabodha, N D Sirisena, V H W Dissanayake
Type 2 diabetes mellitus (T2D) is a disorder of glucose metabolism. It is a complex process involving the regulation of insulin secretion, insulin sensitivity, gluconeogenesis, and glucose uptake at the cellular level. Diabetic peripheral neuropathy (DPN) is one of the debilitating complications that is present in approximately 50% of diabetic patients. It is the primary cause of diabetes-related hospital admissions and nontraumatic foot amputations. The pathogenesis of diabetic neuropathy is a complex process that involves hyperglycemia-induced oxidative stress and altered polyol metabolism that changes the nerve microvasculature, altered growth factor support, and deregulated lipid metabolism...
2018: International Journal of Endocrinology
https://www.readbyqxmd.com/read/29720801/spinocerebellar-ataxia-21-in-a-turkish-child
#9
Faruk Incecik, Ozlem M Herguner, Patrick Willems, Neslihan O Mungan
Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral neuropathy, and learning disabilities. Herein, we reported a case presented with gait and balance problems, swallowing difficulties, mild delayed motor development, and mild learning disability with SCAR21 that confirmed by mutation analysis in a Turkish child. To the best of our knowledge, this is the first case of SCAR21 from Turkey...
January 2018: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29703731/dysregulation-of-sphingolipid-metabolism-contributes-to-bortezomib-induced-neuropathic-pain
#10
Katherine Stockstill, Timothy M Doyle, Xisheng Yan, Zhoumou Chen, Kali Janes, Joshua W Little, Kathryn Braden, Filomena Lauro, Luigino Antonio Giancotti, Caron Mitsue Harada, Ruchi Yadav, Wen Hua Xiao, Jack M Lionberger, William L Neumann, Gary J Bennett, Han-Rong Weng, Sarah Spiegel, Daniela Salvemini
The development of chemotherapy-induced painful peripheral neuropathy is a major dose-limiting side effect of many chemotherapeutics, including bortezomib, but the mechanisms remain poorly understood. We now report that bortezomib causes the dysregulation of de novo sphingolipid metabolism in the spinal cord dorsal horn to increase the levels of sphingosine-1-phosphate (S1P) receptor 1 (S1PR1) ligands, S1P and dihydro-S1P. Accordingly, genetic and pharmacological disruption of S1PR1 with multiple S1PR1 antagonists, including FTY720, blocked and reversed neuropathic pain...
April 27, 2018: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/29695414/mtorc1-is-transiently-reactivated-in-injured-nerves-to-promote-c-jun-elevation-and-schwann-cell-dedifferentiation
#11
Camilla Norrmén, Gianluca Figlia, Patrick Pfistner, Jorge A Pereira, Sven Bachofner, Ueli Suter
Schwann cells (SCs) are endowed with a remarkable plasticity. When peripheral nerves are injured, SCs dedifferentiate and acquire new functions to coordinate nerve repair as so-called repair SCs. Subsequently, SCs redifferentiate to remyelinate regenerated axons. Given the similarities between SC de/redifferentiation in injured nerves and in demyelinating neuropathies, elucidating the signals involved in SC plasticity after nerve injury has potentially wider implications. c-Jun has emerged as a key transcription factor regulating SC dedifferentiation and the acquisition of repair SC features...
April 25, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29691480/an-estimation-of-the-prevalence-of-genomic-disorders-using-chromosomal-microarray-data
#12
Madelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, Christian P Schaaf
Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11...
April 24, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29688962/deterioration-in-distortion-product-otoacoustic-emissions-in-auditory-neuropathy-patients-with-distinct-clinical-and-genetic-backgrounds
#13
Kyoko Kitao, Hideki Mutai, Kazunori Namba, Noriko Morimoto, Atsuko Nakano, Yukiko Arimoto, Tomoko Sugiuchi, Sawako Masuda, Yasuhide Okamoto, Noriko Morita, Hirokazu Sakamoto, Tomoko Shintani, Satoshi Fukuda, Kimitaka Kaga, Tatsuo Matsunaga
OBJECTIVES: Auditory neuropathy (AN) is a clinical disorder characterized by the absence of auditory brainstem response and presence of otoacoustic emissions. A gradual loss of otoacoustic emissions has been reported for some cases of AN. Such cases could be diagnosed as cochlear hearing loss and lead to misunderstanding of the pathology when patients first visit clinics after the loss of otoacoustic emissions. The purpose of this study was to investigate the time course of changes in distortion product otoacoustic emissions (DPOAEs) in association with patients' genetic and clinical backgrounds, including the use of hearing aids...
April 23, 2018: Ear and Hearing
https://www.readbyqxmd.com/read/29674285/evaluation-of-muscle-strength-balance-and-functionality-of-individuals-with-type-2-charcot-marie-tooth-disease
#14
Iandra Maria Pinheiro de França Costa, Paula Santos Nunes, Eduardo Luis de Aquino Neves, Lidiane Carine Lima Santos Barreto, Catarina Andrade Garcez, Cynthia Coelho Souza, Paulo Márcio Pereira Oliveira, Luiz Augusto Sales Ferreira, Viviane Nascimento Brandão Lima, Adriano Antunes de Souza Araújo
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is part of a group of genetically determined neuropathies. The intrinsic muscles of the feet and legs are affected early in the disease, impacting balance and mobility. RESEARCH QUESTION: The purpose of this study was to evaluate individuals with type 2 Charcot-Marie-Tooth disease to understand how motor changes interfere in balance and function. METHODS: The sample comprised 15 individuals with CMT2 from the same family (CMT2G) and a control group (CG) of healthy individuals matched for age and gender...
April 5, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29671961/tmtc2-variant-associated-with-sensorineural-hearing-loss-and-auditory-neuropathy-spectrum-disorder-in-a-family-dyad
#15
Hector Guillen-Ahlers, Christy B Erbe, Frédéric D Chevalier, Maria J Montoya, Kip D Zimmerman, Carl D Langefeld, Michael Olivier, Christina L Runge
BACKGROUND: Sensorineural hearing loss (SNHL) is a common form of hearing loss that can be inherited or triggered by environmental insults; auditory neuropathy spectrum disorder (ANSD) is a SNHL subtype with unique diagnostic criteria. The genetic factors associated with these impairments are vast and diverse, but causal genetic factors are rarely characterized. METHODS: A family dyad, both cochlear implant recipients, presented with a hearing history of bilateral, progressive SNHL, and ANSD...
April 19, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29670510/differential-expression-of-several-mirnas-and-the-host-genes-aatk-and-dnm2-in-leukocytes-of-sporadic-als-patients
#16
Katarina Vrabec, Emanuela Boštjančič, Blaž Koritnik, Lea Leonardis, Leja Dolenc Grošelj, Janez Zidar, Boris Rogelj, Damjan Glavač, Metka Ravnik-Glavač
Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS) through mutations in several genes. However, the cause of a majority of sporadic cases remains unknown. Recently, epigenetics, especially miRNA studies, show some promising aspects. We aimed to evaluate the differential expression of 10 miRNAs, including miR-9, miR-338, miR-638, miR-663a, miR-124a, miR-143, miR-451a, miR-132, miR-206, and let-7b, for which some connection to ALS was shown previously in ALS culture cells, animal models or patients, and in three miRNA host genes, including C1orf61 (miR-9), AATK (miR-338), and DNM2 (miR-638), in leukocyte samples of 84 patients with sporadic ALS...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29659172/optic-disc-drusen-understanding-an-old-problem-from-a-new-perspective
#17
REVIEW
Steffen Hamann, Lasse Malmqvist, Fiona Costello
Optic disc drusen (ODD) are acellular deposits located in the optic nerve head of up to 2.4% of the population. They may develop as by-products of impaired axonal metabolism in genetically predisposed individuals, in whom a narrow scleral canal is hypothesized to play a role. Although ODD are often considered as benign innocent bystanders, recognized as part of a routine ophthalmological examination, the vast majority of patients with ODD have visual field defects. Optic disc drusen (ODD)-associated complications with severe visual loss, most often due to anterior ischaemic optic neuropathy, are also known to occur...
April 16, 2018: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29649429/deletion-of-the-insulin-receptor-in-sensory-neurons-increases-pancreatic-insulin-levels
#18
Caleb W Grote, Natalie M Wilson, Natalie K Katz, Brianne L Guilford, Janelle M Ryals, Lesya Novikova, Lisa Stehno-Bittel, Douglas E Wright
Insulin is known to have neurotrophic properties and loss of insulin support to sensory neurons may contribute to peripheral diabetic neuropathy (PDN). Here, genetically-modified mice were generated in which peripheral sensory neurons lacked the insulin receptor (SNIRKO mice) to determine whether disrupted sensory neuron insulin signaling plays a crucial role in the development of PDN and whether SNIRKO mice develop symptoms of PDN due to reduced insulin neurotrophic support. Our results revealed that SNIRKO mice were euglycemic and never displayed significant changes in a wide range of sensorimotor behaviors, nerve conduction velocity or intraepidermal nerve fiber density...
April 9, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29627640/genetic-variants-structural-and-functional-changes-of-myelin-protein-zero-and-mannose-binding-lectin-2-protein-involved-in-immune-response-and-its-allelic-transmission-in-families-of-patients-with-leprosy-in-colombia
#19
Viviana Cardona-Pemberthy, Michelle Rendón, Juan Camilo Beltrán, Alejandro Soto-Ospina, Amalia Muñoz-Gomez, Pedronel Araque-Marín, Mauricio Corredor, Gabriel Bedoya, Nora Cardona-Castrod
Leprosy is a chronic infectious disease caused by Mycobacterium leprae. Genetic factors associated with immune response contribute to infection development and disease. M. leprae has the capacity to invade Schwann cells in the peripheral nervous system and cause neuropathy. However, while the responsible molecular mechanisms remain to be fully unveiled, they have begun being elucidated. We studied genetic variants Myelin Protein Zero (MPZ), a major structural component of the myelin sheath, and Mannose Binding Lectin 2 (MBL2), a protein involved in immune response, in 112 family groups of 114 leprosy patients using PCR-RFLP, aiming to calculate the association and allelic transmission of variants associated in first, second and third-degree relatives...
April 5, 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29626178/unique-clinical-and-neurophysiologic-profile-of-a-cohort-of-children-with-cmtx3
#20
Manoj Kanhangad, Kayla Cornett, Megan H Brewer, Garth A Nicholson, Monique M Ryan, Robert L Smith, Gopinath M Subramanian, Helen K Young, Stephan Züchner, Marina L Kennerson, Joshua Burns, Manoj P Menezes
OBJECTIVE: To describe in detail the clinical profile of Charcot-Marie-Tooth disease subtype 3 (CMTX3) to aid appropriate genetic testing and rehabilitative therapy. METHODS: We reviewed the clinical and neurophysiologic profile and CMT Pediatric Scale (CMTPedS) assessments of 11 children with CMTX3. RESULTS: Compared with the more common forms of CMT, CMT1A and CMTX, CMTX3 was characterized by early onset with early and progressive hand weakness...
April 6, 2018: Neurology
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