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Neurology. Genetics

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https://www.readbyqxmd.com/read/29725622/somatic-gnaq-mutation-in-the-forme-fruste-of-sturge-weber-syndrome
#1
Michael S Hildebrand, A Simon Harvey, Stephen Malone, John A Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C Jones, Greta Gillies, Kate Pope, Paul J Lockhart, Alexander Dobrovic, Richard J Leventer, Ingrid E Scheffer, Samuel F Berkovic
Objective: To determine whether the GNAQ R183Q mutation is present in the forme fruste cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis. Methods: We used sensitive droplet digital PCR (ddPCR) to detect and quantify the GNAQ mutation in tissues from epilepsy surgery in 4 patients with leptomeningeal angiomatosis; none had ocular or cutaneous manifestations. Results: Low levels of the GNAQ mutation were detected in the brain tissue of all 4 cases-ranging from 0...
June 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29629410/expanding-the-global-prevalence-of-spinocerebellar-ataxia-type-42
#2
Kathie Ngo, Mamdouh Aker, Lauren E Petty, Jason Chen, Francesca Cavalcanti, Alexandra B Nelson, Sharon Hassin-Baer, Michael D Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E Below, Brent L Fogel
No abstract text is available yet for this article.
June 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29600276/diagnostic-odyssey-of-patients-with-mitochondrial-disease-results-of-a-survey
#3
Johnston Grier, Michio Hirano, Amel Karaa, Emma Shepard, John L P Thompson
Objective: To document the complex "diagnostic odyssey" of patients with mitochondrial disease. Methods: We analyzed data from 210 Rare Diseases Clinical Research Network Contact Registry participants who were patients with a biochemical deficiency or self-reported diagnosis of mitochondrial disease, or their caregivers. Results: Participants saw an average of 8.19 clinicians (SD 8.0, median 5). The first clinician consulted about symptoms was typically a primary care physician (56...
April 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29600275/ataxia-telangiectasia-a-new-remitting-form-with-a-peculiar-transcriptome-signature
#4
Vincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, Caterina Caputi, Luciana Chessa, Mauro Magnani
Objective: Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mild- and late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genotype who experienced an unexpected favorable course. Methods: A 24-year-old woman developed, by the age of 3 years, all the classic symptoms of AT associated with increased alpha-fetoprotein levels, a compound AT-mutated ( ATM ) genotype with an inframe deletion c...
April 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29600274/-wdr45-mutations-may-cause-a-mecp2-mutation-negative-rett-syndrome-phenotype
#5
Leonora Kulikovskaja, Adrijan Sarajlija, Dusanka Savic-Pavicevic, Valerija Dobricic, Christine Klein, Ana Westenberger
No abstract text is available yet for this article.
April 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29582019/truncating-slc5a7-mutations-underlie-a-spectrum-of-dominant-hereditary-motor-neuropathies
#6
Claire G Salter, Danique Beijer, Holly Hardy, Katy E S Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A Russell, Meriel M McEntagart, Barry A Chioza, Randy D Blakely, John K Chilton, Jan De Bleecker, Jonathan Baets, Emma L Baple, David Walk, Andrew H Crosby
Objective: To identify the genetic cause of disease in 2 previously unreported families with forms of distal hereditary motor neuropathies (dHMNs). Methods: The first family comprises individuals affected by dHMN type V, which lacks the cardinal clinical feature of vocal cord paralysis characteristic of dHMN-VII observed in the second family. Next-generation sequencing was performed on the proband of each family. Variants were annotated and filtered, initially focusing on genes associated with neuropathy...
April 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29577080/mutation-in-the-gch1-gene-with-dopa-responsive-dystonia-and-phenotypic-variability
#7
Elsa Krim, Jerome Aupy, Fabienne Clot, Mickael Bonnan, Pierre Burbaud, Dominique Guehl
No abstract text is available yet for this article.
April 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29577079/twenty-year-old-african-american-woman-with-prion-disease-associated-with-the-g114v-prnp-variant
#8
Jason Margolesky, Mario Saporta
No abstract text is available yet for this article.
April 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29577078/rare-abca7-variants-in-2-german-families-with-alzheimer-disease
#9
Patrick May, Sabrina Pichler, Daniela Hartl, Dheeraj R Bobbili, Manuel Mayhaus, Christian Spaniol, Alexander Kurz, Rudi Balling, Jochen G Schneider, Matthias Riemenschneider
Objective: The aim of this study was to identify variants associated with familial late-onset Alzheimer disease (AD) using whole-genome sequencing. Methods: Several families with an autosomal dominant inheritance pattern of AD were analyzed by whole-genome sequencing. Variants were prioritized for rare, likely pathogenic variants in genes already known to be associated with AD and confirmed by Sanger sequencing using standard protocols. Results: We identified 2 rare ABCA7 variants (rs143718918 and rs538591288) with varying penetrance in 2 independent German AD families, respectively...
April 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29577077/-aco2-homozygous-missense-mutation-associated-with-complicated-hereditary-spastic-paraplegia
#10
Christian G Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F J van IJcken, Meike W Vernooij, Amalia M Dolga, Femke M S de Vrij, Vincenzo Bonifati, Steven A Kushner
Objective: To identify the clinical characteristics and genetic etiology of a family affected with hereditary spastic paraplegia (HSP). Methods: Clinical, genetic, and functional analyses involving genome-wide linkage coupled to whole-exome sequencing in a consanguineous family with complicated HSP. Results: A homozygous missense mutation was identified in the ACO2 gene (c.1240T>G p.Phe414Val) that segregated with HSP complicated by intellectual disability and microcephaly...
April 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29564393/-aco2-mutations-a-novel-phenotype-associating-severe-optic-atrophy-and-spastic-paraplegia
#11
Cecilia Marelli, Christian Hamel, Melanie Quiles, Bertrand Carlander, Lise Larrieu, Cecile Delettre, Emmanuelle Sarzi, Dominique Chretien, Pierre Rustin, Michel Koenig, Claire Guissart
No abstract text is available yet for this article.
April 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29560417/whole-exome-sequencing-identifies-mutations-in-mymk-in-a-mild-form-of-carey-fineman-ziter-syndrome
#12
Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur, Hanns Lochmüller
No abstract text is available yet for this article.
April 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29552636/2017-year-in-review-and-message-from-the-editors-to-our-reviewers
#13
EDITORIAL
Stefan M Pulst, Nicholas Elwood Johnson, Massimo Pandolfo, Raymond P Roos, Jeffery M Vance
No abstract text is available yet for this article.
February 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29473052/novel-hemizygous-nonsense-mutation-in-drp2-is-associated-with-inherited-neuropathy
#14
Ricardo H Roda, Brett A McCray, Christopher J Klein, Ahmet Hoke
No abstract text is available yet for this article.
February 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29473051/ap4-deficiency-a-novel-form-of-neurodegeneration-with-brain-iron-accumulation
#15
Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P Hamel, Guy Lenaers
Objective: To describe the clinico-radiological phenotype of 3 patients harboring a homozygous novel AP4M1 pathogenic mutation. Methods: The 3 patients from an inbred family who exhibited early-onset developmental delay, tetraparesis, juvenile motor function deterioration, and intellectual deficiency were investigated by magnetic brain imaging using T1-weighted, T2-weighted, T2*-weighted, fluid-attenuated inversion recovery, susceptibility weighted imaging (SWI) sequences...
February 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29473050/-cyp2c19-variant-mitigates-alzheimer-disease-pathophysiology-in-vivo-and-postmortem
#16
Andréa L Benedet, Lei Yu, Aurélie Labbe, Sulantha Mathotaarachchi, Tharick A Pascoal, Monica Shin, Min-Su Kang, Serge Gauthier, Guy A Rouleau, Judes Poirier, David A Bennett, Pedro Rosa-Neto
Objective: To verify whether CYP polymorphisms are associated with amyloid-β (Aβ) pathology across the spectrum of clinical Alzheimer disease using in vivo and postmortem data from 2 independent cohorts. Methods: A candidate-gene approach tested the association between 5 genes (28 single nucleotide polymorphisms) and Aβ load measured in vivo by the global [18 F]florbetapir PET standardized uptake value ratio (SUVR) in 338 Alzheimer's Disease Neuroimaging Initiative participants...
February 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29473049/late-onset-and-acute-presentation-of-brown-vialetto-van-laere-syndrome-in-a-brazilian-family
#17
Sarah Camargos, Rita Guerreiro, Jose Bras, Luis Sergio Mageste
No abstract text is available yet for this article.
February 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29473048/expanding-the-adcy5-phenotype-toward-spastic-paraparesis-a-mutation-in-the-m2-domain
#18
Anne J E Waalkens, Fleur Vansenne, Annemarie H van der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J de Koning, Marina A J Tijssen
No abstract text is available yet for this article.
February 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29473047/familial-monophasic-acute-transverse-myelitis-due-to-the-pathogenic-variant-in-vps37a
#19
Maureen A Mealy, Tai-Seung Nam, Santiago J Pardo, Carlos A Pardo, Nara L Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H Burns, Michael Levy
Objective: To identify genetic differences among siblings with a family history of idiopathic transverse myelitis (ITM). Methods: We compared whole-exome sequencing (WES) on germline samples from the 2 affected sisters with ITM with 3 of their healthy siblings. Results: The 2 sisters with ITM both had acute onset of sensory loss in the legs, weakness, and bowel/bladder dysfunction. The first developed ITM at age 15 years with a clinical nadir of complete paralysis, which slowly recovered over a few years...
February 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/29473046/duplications-at-19q13-33-in-patients-with-neurodevelopmental-disorders
#20
Eduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, Giancarlo V De Ferrari, Peter Nürnberg, Bertrand Isidor, Bernd A Neubauer, Dennis Lal
Objective: After the recent publication of the first patients with disease-associated missense variants in the GRIN2D gene, we evaluate the effect of copy number variants (CNVs) overlapping this gene toward the presentation of neurodevelopmental disorders (NDDs). Methods: We explored ClinVar (number of CNVs = 50,794) and DECIPHER (number of CNVs = 28,085) clinical databases of genomic variations for patients with copy number changes overlapping the GRIN2D gene at the 19q13...
February 2018: Neurology. Genetics
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