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Neurology. Genetics

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https://www.readbyqxmd.com/read/30109272/confirming-tdp2-mutation-in-spinocerebellar-ataxia-autosomal-recessive-23-scar23
#1
Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, Langping He, Sarah Walker, Arjan P M de Brouwer, Robert Taylor, Dmitriy Niyazov, Keith W Caldecott
Objective: To address the relationship between mutations in the DNA strand break repair protein tyrosyl DNA phosphodiesterase 2 (TDP2) and spinocerebellar ataxia autosomal recessive 23 (SCAR23) and to characterize the cellular phenotype of primary fibroblasts from this disease. Methods: We have used exome sequencing, Sanger sequencing, gene editing and cell biology, biochemistry, and subcellular mitochondrial analyses for this study. Results: We have identified a patient in the United States with SCAR23 harboring the same homozygous TDP2 mutation as previously reported in 3 Irish siblings (c...
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30109271/-glra1-mutation-and-long-term-follow-up-of-the-first-hyperekplexia-family
#2
Martin Paucar, Josefine Waldthaler, Per Svenningsson
No abstract text is available yet for this article.
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30109270/de-novo-dnm1l-mutation-associated-with-mitochondrial-epilepsy-syndrome-with-fever-sensitivity
#3
Emma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton
No abstract text is available yet for this article.
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30109269/association-study-between-multiple-system-atrophy-and-trem2-p-r47h
#4
Kotaro Ogaki, Michael G Heckman, Shunsuke Koga, Yuka A Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L Walton, Alexandra I Soto, Emily R Vargas, Shinsuke Fujioka, Ryan J Uitti, Jay A van Gerpen, William P Cheshire, Steven G Younkin, Zbigniew K Wszolek, Phillip A Low, Wolfgang Singer, Guojun Bu, Dennis W Dickson, Owen A Ross
Objective: The triggering receptor expressed on myeloid cells 2 (TREM2) p.R47H substitution (rs75932628) is a risk factor for Alzheimer disease (AD) but has not been well studied in relation to the risk of multiple system atrophy (MSA); the aim of this study was to evaluate the association between the TREM2 p.R47H variant and the risk of MSA. Methods: A total of 168 patients with pathologically confirmed MSA, 89 patients with clinically diagnosed MSA, and 1,695 controls were included...
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30109268/impaired-transmissibility-of-atypical-prions-from-genetic-cjd-g114v
#5
Ignazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A Mastrianni
Objective: To describe the clinicopathologic, molecular, and transmissible characteristics of genetic prion disease in a young man carrying the PRNP -G114V variant. Methods: We performed genetic, histologic, and molecular studies, combined with in vivo transmission studies and in vitro replication studies, to characterize this genetic prion disease. Results: A 24-year-old American man of Polish descent developed progressive dementia, aphasia, and ataxia, leading to his death 5 years later...
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30109267/noncoding-repeat-expansions-for-als-in-japan-are-associated-with-the-atxn8os-gene
#6
Makito Hirano, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki
Objective: To assess the contribution of noncoding repeat expansions in Japanese patients with amyotrophic lateral sclerosis (ALS). Methods: Sporadic ALS in Western countries is frequently associated with noncoding repeat expansions in the C9ORF72 gene. Spinocerebellar ataxia type 8 (SCA8) is another noncoding repeat disease caused by expanded CTA/CTG repeats in the ATXN8OS gene. Although the involvement of upper and lower motor neurons in SCA8 has been reported, a positive association between SCA8 and ALS remains unestablished...
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30109266/axon-reflex-mediated-vasodilation-is-reduced-in-proportion-to-disease-severity-in-ttr-fap
#7
Irène Calero-Romero, Marc R Suter, Bernard Waeber, Francois Feihl, Thierry Kuntzer
Objective: To evaluate the area of the vascular flare in familial amyloid polyneuropathy (FAP). Methods: Healthy controls and patients with genetically confirmed FAP were prospectively examined, on the upper and lower limbs, for thermal sensitivity (Medoc TSA-II thermal analyzer) and for axon reflex-mediated flare. The latter was induced by iontophoresis of histamine on the forearm and leg on 2 different visits. We used laser Doppler imaging (LDI) to measure the flare area (LDIflare)...
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30109265/population-genealogy-resource-shows-evidence-of-familial-clustering-for-alzheimer-disease
#8
Lisa Anne Cannon-Albright, Sue Dintelman, Tim Maness, Johni Cerny, Alun Thomas, Steven Backus, James Michael Farnham, Craig Carl Teerlink, Jorge Contreras, John S K Kauwe, Laurence J Meyer
Objective: To show the potential of a resource consisting of a genealogy of the US record linked to National Veterans Health Administration (VHA) patient data for investigation of the genetic contribution to health-related phenotypes, we present an analysis of familial clustering of VHA patients diagnosed with Alzheimer disease (AD). Methods: Patients with AD were identified by the International Classification of Diseases code. The Genealogical Index of Familiality method was used to compare the average relatedness of VHA patients with AD with expected relatedness...
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30109264/these-violent-repeats-have-violent-extends
#9
EDITORIAL
Julien Couthouis, Aaron D Gitler
No abstract text is available yet for this article.
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30065956/novel-elovl4-mutation-associated-with-erythrokeratodermia-and-spinocerebellar-ataxia-sca-34
#10
Pierre R Bourque, Jodi Warman-Chardon, Daniel A Lelli, Lauren LaBerge, Carly Kirshen, Scott H Bradshaw, Taila Hartley, Kym M Boycott
No abstract text is available yet for this article.
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30065955/independent-nf1-mutations-underlie-caf%C3%A3-au-lait-macule-development-in-a-woman-with-segmental-nf1
#11
Morgan E Freret, Corina Anastasaki, David H Gutmann
No abstract text is available yet for this article.
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30065954/case-of-late-onset-sandhoff-disease-due-to-a-novel-mutation-in-the-hexb-gene
#12
Angela R Sung, Paolo Moretti, Aziz Shaibani
No abstract text is available yet for this article.
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30065953/carey-fineman-ziter-syndrome-with-mutations-in-the-myomaker-gene-and-muscle-fiber-hypertrophy
#13
Carola Hedberg-Oldfors, Christopher Lindberg, Anders Oldfors
Objective: To describe the long-term clinical follow-up in 3 siblings with Carey-Fineman-Ziter syndrome (CFZS), a form of congenital myopathy with a novel mutation in the myomaker gene ( MYMK ). Methods: We performed clinical investigations, repeat muscle biopsy in 2 of the siblings at ages ranging from 11 months to 18 years, and whole-genome sequencing. Results: All the siblings had a marked and characteristic facial weakness and variable dysmorphic features affecting the face, hands, and feet, and short stature...
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30065952/longitudinal-analysis-of-contrast-acuity-in-friedreich-ataxia
#14
Ali G Hamedani, Lauren A Hauser, Susan Perlman, Katherine Mathews, George R Wilmot, Theresa Zesiewicz, S H Subramony, Tetsuo Ashizawa, Martin B Delatycki, Alicia Brocht, David R Lynch
Objective: To determine the natural history of contrast acuity in Friedreich ataxia. Methods: In the Friedreich Ataxia-Clinical Outcome Measures Study, participants (n = 764) underwent binocular high- and low-contrast visual acuity testing at annual study visits. Mixed-effects linear regression was used to model visual acuity as a function of time, with random intercepts and slopes to account for intraindividual correlation of repeated measurements. A time-varying covariate was used to adjust for diabetes, and interaction terms were used to assess for effect modification by GAA repeat length, disease duration, and other variables...
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30065951/-asfmr1-splice-variant-a-predictor-of-fragile-x-associated-tremor-ataxia-syndrome
#15
Padmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A Hall
Objective: To explore the association of a splice variant of the antisense fragile X mental retardation 1 ( ASFMR1 ) gene, loss of fragile X mental retardation 1 ( FMR1 ) AGG interspersions and FMR1 CGG repeat size with manifestation, and severity of clinical symptoms of fragile X-associated tremor/ataxia syndrome (FXTAS). Methods: Premutation carriers (PMCs) with FXTAS, without FXTAS, and normal controls (NCs) had a neurologic evaluation and collection of skin and blood samples...
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30046662/expanding-the-phenotype-of-de-novo-slc25a4-linked-mitochondrial-disease-to-include-mild-myopathy
#16
Martin S King, Kyle Thompson, Sila Hopton, Langping He, Edmund R S Kunji, Robert W Taylor, Xilma R Ortiz-Gonzalez
Objective: To determine the disease relevance of a novel de novo dominant variant in the SLC25A4 gene, encoding the muscle mitochondrial adenosine diphosphate (ADP)/adenosine triphosphate (ATP) carrier, identified in a child presenting with a previously unreported phenotype of mild childhood-onset myopathy. Methods: Immunohistochemical and western blot analysis of the patient's muscle tissue were used to assay for the evidence of mitochondrial myopathy and for complex I-V protein levels...
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30046661/-scn11a-arg225cys-mutation-causes-nociceptive-pain-without-detectable-peripheral-nerve-pathology
#17
Ryan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li
Objective: The SCN11A gene encodes the NaV 1.9 sodium channel found exclusively in peripheral nociceptive neurons. Methods: All enrolled participants were evaluated clinically by electrophysiologic studies, DNA sequencing, and punch skin biopsies. Results: All affected family members are afflicted by episodes of pain. Pain was predominantly nociceptive, but not neuropathic in nature, which led a diagnosis of fibromyalgia in some patients. All patients had normal findings in nerve conduction studies for detecting large nerve fiber neuropathies and skin biopsies for detecting small nerve fiber pathology...
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30046660/atypical-alexander-disease-with-dystonia-retinopathy-and-a-brain-mass-mimicking-astrocytoma
#18
Keren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C Burrage, Mahim Jain, Richard A Lewis, Gregory N Fuller, Mingchu Xu, Marta Penas-Prado, Maria K Gule-Monroe, Jill A Rosenfeld, Rui Chen, Christine M Eng, Yaping Yang, Brendan H Lee, Paolo M Moretti, Shweta U Dhar
No abstract text is available yet for this article.
August 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29904720/rare-variants-and-de-novo-variants-in-mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis
#19
John K L Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H T Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S Cherny
Objective: We investigated the role of rare genetic variants and of de novo variants in the pathogenesis of mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS). Methods: Whole-exome sequencing (WES) was performed in patients with MTLE-HS and their unaffected parents (trios). Genes or gene sets that were enriched with predicted damaging rare variants in the patients as compared to population controls were identified. Patients and their parents were compared to identify whether the variants were de novo or inherited...
June 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29904719/whole-exome-sequencing-to-disentangle-the-complex-genetics-of-hippocampal-sclerosis-temporal-lobe-epilepsy
#20
EDITORIAL
Pasquale Striano, Carlo Nobile
No abstract text is available yet for this article.
June 2018: Neurology. Genetics
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