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Neurology. Genetics

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https://www.readbyqxmd.com/read/30643851/lysosomal-dysfunction-in-tmem106b-hypomyelinating-leukodystrophy
#1
Yoko Ito, Taila Hartley, Stephen Baird, Sunita Venkateswaran, Cas Simons, Nicole I Wolf, Kym M Boycott, David A Dyment, Kristin D Kernohan
No abstract text is available yet for this article.
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30643850/a-tropomyosin-receptor-kinase-fused-gene-mutation-associates-with-vacuolar-myopathy
#2
Nicolas N Madigan, Jennifer A Tracy, William J Litchy, Zhiyv Niu, Chunhua Chen, Kun Ling, Margherita Milone
No abstract text is available yet for this article.
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30637332/screening-of-novel-restless-legs-syndrome-associated-genes-in-french-canadian-families
#3
Fulya Akçimen, Dan Spiegelman, Alexandre Dionne-Laporte, Ziv Gan-Or, Patrick A Dion, Guy A Rouleau
Objective: To examine whether any rare, protein-altering variants could be identified across 13 recently identified restless legs syndrome (RLS) loci in familial French-Canadian cases. Methods: Whole-exome sequences from 7 large French-Canadian families (4-8 affected per family for a total of 38 cases) were examined for variants in any genes located within 1 Mb on either side of each locus. Results: Among the 43 rare protein-altering variants identified, none segregated with RLS in the families...
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30588500/erratum-novel-genotype-phenotype-and-mri-correlations-in-a-large-cohort-of-patients-with-spg7-mutations
#4
(no author information available yet)
[This corrects the article on p. e279 in vol. 4, PMID: 30533525.].
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30588499/the-complex-structure-of-atxn2-genetic-variation
#5
EDITORIAL
Stefan M Pulst
No abstract text is available yet for this article.
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30588498/development-of-a-rapid-functional-assay-that-predicts-glut1-disease-severity
#6
Sasha M Zaman, Saul A Mullen, Slavé Petrovski, Snezana Maljevic, Elena V Gazina, A Marie Phillips, Gabriel Davis Jones, Michael S Hildebrand, John Damiano, Stéphane Auvin, Holger Lerche, Yvonne G Weber, Samuel F Berkovic, Ingrid E Scheffer, Christopher A Reid, Steven Petrou
Objective: To examine the genotype to phenotype connection in glucose transporter type 1 (GLUT1) deficiency and whether a simple functional assay can predict disease outcome from genetic sequence alone. Methods: GLUT1 deficiency, due to mutations in SLC2A1 , causes a wide range of epilepsies. One possible mechanism for this is variable impact of mutations on GLUT1 function. To test this, we measured glucose transport by GLUT1 variants identified in population controls and patients with mild to severe epilepsies...
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30584599/ataxia-telangiectasia-like-disorder-in-a-family-deficient-for-mre11a-caused-by-a-mre11-variant
#7
Maryam Sedghi, Mehri Salari, Ali-Reza Moslemi, Ariana Kariminejad, Mark Davis, Hayley Goullée, Björn Olsson, Nigel Laing, Homa Tajsharghi
Objective: We report 3 siblings with the characteristic features of ataxia-telangiectasia-like disorder associated with a homozygous MRE11 synonymous variant causing nonsense-mediated mRNA decay (NMD) and MRE11A deficiency. Methods: Clinical assessments, next-generation sequencing, transcript and immunohistochemistry analyses were performed. Results: The patients presented with poor balance, developmental delay during the first year of age, and suffered from intellectual disability from early childhood...
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30584598/brain-somatic-mutations-in-slc35a2-cause-intractable-epilepsy-with-aberrant-n-glycosylation
#8
Nam Suk Sim, Youngsuk Seo, Jae Seok Lim, Woo Kyeong Kim, Hyeonju Son, Heung Dong Kim, Sangwoo Kim, Hyun Joo An, Hoon-Chul Kang, Se Hoon Kim, Dong-Seok Kim, Jeong Ho Lee
Objective: To identify whether somatic mutations in SLC35A2 alter N-glycan structures in human brain tissues and cause nonlesional focal epilepsy (NLFE) or mild malformation of cortical development (mMCD). Methods: Deep whole exome and targeted sequencing analyses were conducted for matched brain and blood tissues from patients with intractable NLFE and patients with mMCD who are negative for mutations in mTOR pathway genes. Furthermore, tissue glyco-capture and nanoLC/mass spectrometry analysis were performed to examine N-glycosylation in affected brain tissue...
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30584597/atrial-fibrillation-genetic-risk-differentiates-cardioembolic-stroke-from-other-stroke-subtypes
#9
Sara L Pulit, Lu-Chen Weng, Patrick F McArdle, Ludovic Trinquart, Seung Hoan Choi, Braxton D Mitchell, Jonathan Rosand, Paul I W de Bakker, Emelia J Benjamin, Patrick T Ellinor, Steven J Kittner, Steven A Lubitz, Christopher D Anderson
Objective: We sought to assess whether genetic risk factors for atrial fibrillation (AF) can explain cardioembolic stroke risk. Methods: We evaluated genetic correlations between a previous genetic study of AF and AF in the presence of cardioembolic stroke using genome-wide genotypes from the Stroke Genetics Network (N = 3,190 AF cases, 3,000 cardioembolic stroke cases, and 28,026 referents). We tested whether a previously validated AF polygenic risk score (PRS) associated with cardioembolic and other stroke subtypes after accounting for AF clinical risk factors...
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30584596/copy-number-loss-in-sfmbt1-is-common-among-finnish-and-norwegian-patients-with-inph
#10
Ville E Korhonen, Seppo Helisalmi, Aleksi Jokinen, Ilari Jokinen, Juha-Matti Lehtola, Minna Oinas, Kimmo Lönnrot, Cecilia Avellan, Anna Kotkansalo, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Antti Junkkari, Mikko Hiltunen, Hilkka Soininen, Mitja Kurki, Juha E Jääskeläinen, Anne M Koivisto, Hidenori Sato, Takeo Kato, Anne M Remes, Per Kristian Eide, Ville Leinonen
Objective: To evaluate the role of the copy number loss in SFMBT1 in a Caucasian population. Methods: Five hundred sixty-seven Finnish and 377 Norwegian patients with idiopathic normal pressure hydrocephalus (iNPH) were genotyped and compared with 508 Finnish elderly, neurologically healthy controls. The copy number loss in intron 2 of SFMBT1 was determined using quantitative PCR. Results: The copy number loss in intron 2 of SFMBT1 was detected in 10% of Finnish (odds ratio [OR] = 1...
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30584595/amyloid-and-tau-pet-imaging-in-a-familial-prion-kindred
#11
David T Jones, Ryan A Townley, Jonathan Graff-Radford, Hugo Botha, David S Knopman, Ronald C Petersen, Clifford R Jack, Val J Lowe, Bradley F Boeve
Objective: To study the in vivo binding properties of 18 F-AV-1451 (tau-PET) and Pittsburgh compound B (PiB-PET) in a unique kindred with a familial prion disorder known to produce amyloid plaques composed of prion protein alongside Alzheimer disease (AD)-like tau tangles. Methods: A case series of 4 symptomatic family members with the 12-octapeptide repeat insertion in the PRNP gene were imaged with 3T MRI, PiB-PET, and tau-PET in their fourth decade of life. Results: There was significant neocortical uptake of the tau-PET tracer in all 4 familial prion cases...
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30584594/mutation-in-polr3k-causes-hypomyelinating-leukodystrophy-and-abnormal-ribosomal-rna-regulation
#12
Imen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eleonore Eymard-Pierre, Claude Cances, Céline Bar, Anne-Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh-Bergès, Martin Teichmann, Odile Boespflug-Tanguy
Objective: To identify the genetic cause of hypomyelinating leukodystrophy in 2 consanguineous families. Methods: Homozygosity mapping combined with whole-exome sequencing of consanguineous families was performed. Mutation consequences were determined by studying the structural change of the protein and by the RNA analysis of patients' fibroblasts. Results: We identified a biallelic mutation in a gene coding for a Pol III-specific subunit, POLR3K (c...
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30569017/leigh-syndrome-followed-by-parkinsonism-in-an-adult-with-homozygous-c-626c-t-mutation-in-mtfmt
#13
Dimitri M Hemelsoet, Arnaud V Vanlander, Joél Smet, Elise Vantroys, Marjan Acou, Ingeborg Goethals, Tom Sante, Sara Seneca, Bjorn Menten, Rudy Van Coster
Objective: To report the clinical, radiologic, biochemical, and molecular characteristics in a 46-year-old participant with adult-onset Leigh syndrome (LS), followed by parkinsonism. Methods: Case description with diagnostic workup included blood and CSF analysis, skeletal muscle investigations, blue native polyacrylamide gel electrophoresis, whole exome sequencing targeting nuclear genes involved in mitochondrial transcription and translation, cerebral MRI, 123I-FP-CIT brain single-photon emission computed tomography (SPECT), and C-11 raclopride positron emission tomography (PET)...
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30569016/rare-genetic-variation-implicated-in-non-hispanic-white-families-with-alzheimer-disease
#14
Gary W Beecham, Badri Vardarajan, Elizabeth Blue, William Bush, James Jaworski, Sandra Barral, Anita DeStefano, Kara Hamilton-Nelson, Brian Kunkle, Eden R Martin, Adam Naj, Farid Rajabli, Christiane Reitz, Timothy Thornton, Cornelia van Duijn, Allison Goate, Sudha Seshadri, Lindsay A Farrer, Eric Boerwinkle, Gerard Schellenberg, Jonathan L Haines, Ellen Wijsman, Richard Mayeux, Margaret A Pericak-Vance
Objective: To identify genetic variation influencing late-onset Alzheimer disease (LOAD), we used a large data set of non-Hispanic white (NHW) extended families multiply-affected by LOAD by performing whole genome sequencing (WGS). Methods: As part of the Alzheimer Disease Sequencing Project, WGS data were generated for 197 NHW participants from 42 families (affected individuals and unaffected, elderly relatives). A two-pronged approach was taken. First, variants were prioritized using heterogeneity logarithm of the odds (HLOD) and family-specific LOD scores as well as annotations based on function, frequency, and segregation with disease...
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30533531/tpp2-mutation-associated-with-sterile-brain-inflammation-mimicking-ms
#15
Eva M Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy, Chantal Kopecky, Sandra Pferschy, Christiane Schmied, Fritz Leutmezer, Mohammad Keilani, Christina M Lill, Sabine Hoffjan, Jörg T Epplen, Uwe K Zettl, Michael Hecker, Angela Deutschländer, Sven G Meuth, Mamoun Ahram, Baha Mustafa, Mohammed El-Khateeb, Carles Vilariño-Güell, A Dessa Sadovnick, Fritz Zimprich, Birgitta Tomkinson, Tim Strom, Wolfgang Kristoferitsch, Hans Lassmann, Alexander Zimprich
Objective: To ascertain the genetic cause of a consanguineous family from Syria suffering from a sterile brain inflammation mimicking a mild nonprogressive form of MS. Methods: We used homozygosity mapping and next-generation sequencing to detect the disease-causing gene in the affected siblings. In addition, we performed RNA and protein expression studies, enzymatic activity assays, immunohistochemistry, and targeted sequencing of further MS cases from Austria, Germany, Canada and Jordan...
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30533530/variable-penetrance-of-andersen-tawil-syndrome-in-a-family-with-a-rare-missense-kcnj2-mutation
#16
Reem Deeb, Aravindhan Veerapandiyan, Rabi Tawil, Simona Treidler
No abstract text is available yet for this article.
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30533529/homozygous-31-trinucleotide-repeats-in-the-sca2-allele-are-pathogenic-for-cerebellar-ataxia
#17
Maya Tojima, Gaku Murakami, Rie Hikawa, Hodaka Yamakado, Hirofumi Yamashita, Ryosuke Takahashi, Masaru Matsui
No abstract text is available yet for this article.
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30533528/identification-of-a-new-syt2-variant-validates-an-unusual-distal-motor-neuropathy-phenotype
#18
Nataly I Montes-Chinea, Zhuo Guan, Marcella Coutts, Cecilia Vidal, Steve Courel, Adriana P Rebelo, Lisa Abreu, Stephan Zuchner, J Troy Littleton, Mario A Saporta
Objective: To report a new SYT2 missense mutation causing distal hereditary motor neuropathy and presynaptic neuromuscular junction (NMJ) transmission dysfunction. Methods: We report a multigenerational family with a new missense mutation, c. 1112T>A (p. Ile371Lys), in the C2B domain of SYT2 , describe the clinical and electrophysiologic phenotype associated with this variant, and validate its pathogenicity in a Drosophila model. Results: Both proband and her mother present a similar clinical phenotype characterized by a slowly progressive, predominantly motor neuropathy and clear evidence of presynaptic NMJ dysfunction on nerve conduction studies...
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30533527/delineating-foxg1-syndrome-from-congenital-microcephaly-to-hyperkinetic-encephalopathy
#19
Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson
Objective: To provide new insights into the FOXG1- related clinical and imaging phenotypes and refine the phenotype-genotype correlation in FOXG1 syndrome. Methods: We analyzed the clinical and imaging phenotypes of a cohort of 45 patients with a pathogenic or likely pathogenic FOXG1 variant and performed phenotype-genotype correlations. Results: A total of 37 FOXG1 different heterozygous mutations were identified, of which 18 are novel. We described a broad spectrum of neurodevelopmental phenotypes, characterized by severe postnatal microcephaly and developmental delay accompanied by a hyperkinetic movement disorder, stereotypes and sleep disorders, and epileptic seizures...
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30533526/molecular-pathogenesis-of-human-cd59-deficiency
#20
Netanel Karbian, Yael Eshed-Eisenbach, Adi Tabib, Hila Hoizman, B Paul Morgan, Ora Schueler-Furman, Elior Peles, Dror Mevorach
Objective: To characterize all 4 mutations described for CD59 congenital deficiency. Methods: The 4 mutations, p.Cys64Tyr, p.Asp24Val, p.Asp24Valfs*, and p.Ala16Alafs*, were described in 13 individuals with CD59 malfunction. All 13 presented with recurrent Guillain-Barré syndrome or chronic inflammatory demyelinating polyneuropathy, recurrent strokes, and chronic hemolysis. Here, we track the molecular consequences of the 4 mutations and their effects on CD59 expression, localization, glycosylation, degradation, secretion, and function...
December 2018: Neurology. Genetics
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