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Neurology. Genetics

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https://www.readbyqxmd.com/read/30338296/early-onset-parkinson-disease-caused-by-a-mutation-in-chchd2-and-mitochondrial-dysfunction
#1
Richard G Lee, Maryam Sedghi, Mehri Salari, Anne-Marie J Shearwood, Maike Stentenbach, Ariana Kariminejad, Hayley Goullee, Oliver Rackham, Nigel G Laing, Homa Tajsharghi, Aleksandra Filipovska
Objective: Our goal was to identify the gene(s) associated with an early-onset form of Parkinson disease (PD) and the molecular defects associated with this mutation. Methods: We combined whole-exome sequencing and functional genomics to identify the genes associated with early-onset PD. We used fluorescence microscopy, cell, and mitochondrial biology measurements to identify the molecular defects resulting from the identified mutation. Results: Here, we report an association of a homozygous variant in CHCHD2 , encoding coiled-coil-helix-coiled-coil-helix domain containing protein 2, a mitochondrial protein of unknown function, with an early-onset form of PD in a 26-year-old Caucasian woman...
October 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30338295/bioenergetics-in-fibroblasts-of-patients-with-huntington-disease-are-associated-with-age-at-onset
#2
Sarah L Gardiner, Chiara Milanese, Merel W Boogaard, Ronald A M Buijsen, Marye Hogenboom, Raymund A C Roos, Pier G Mastroberardino, Willeke M C van Roon-Mom, N Ahmad Aziz
Objective: We aimed to assess whether differences in energy metabolism in fibroblast cell lines derived from patients with Huntington disease were associated with age at onset independent of the cytosine-adenine-guanine (CAG) repeat number in the mutant allele. Methods: For this study, we selected 9 pairs of patients with Huntington disease matched for mutant CAG repeat size and sex, but with a difference of at least 10 years in age at onset, using the Leiden Huntington disease database...
October 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30338294/increased-kcnj18-promoter-activity-as-a-mechanism-in-atypical-normokalemic-periodic-paralysis
#3
Muhidien Soufi, Volker Ruppert, Susanne Rinné, Tobias Mueller, Bilgen Kurt, Guenter Pilz, Andreas Maieron, Richard Dodel, Niels Decher, Juergen R Schaefer
Objective: To identify the genetic basis of a patient with symptoms of normokalemic sporadic periodic paralysis (PP) and to study the effect of KCNJ18 mutations. Methods: A candidate gene approach was used to identify causative gene mutations, using Sanger sequencing. KCNJ18 promoter activity was analyzed in transfected HEK293 cells with a luciferase assay, and functional analysis of Kir2.6 channels was performed with the two-electrode voltage-clamp technique. Results: Although we did not identify harmful mutations in SCN4A, CACNA1S, KCNJ2 and KCNE3, we detected a monoallelic four-fold variant in KCNJ18 (R39Q/R40H/A56E/I249V), together with a variant in the respective promoter of this channel (c...
October 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30338293/plasticity-related-gene-3-lppr1-and-age-at-diagnosis-of-parkinson-disease
#4
Zachary D Wallen, Honglei Chen, Erin M Hill-Burns, Stewart A Factor, Cyrus P Zabetian, Haydeh Payami
Objective: To identify modifiers of age at diagnosis of Parkinson disease (PD). Methods: Genome-wide association study (GWAS) included 1,950 individuals with PD from the NeuroGenetics Research Consortium (NGRC) study. Replication was conducted in the Parkinson's, Genes and Environment study, including 209 prevalent (PAGEP ) and 517 incident (PAGEI ) PD cases. Cox regression was used to test association with age at diagnosis. Individuals without neurologic disease were used to rule out confounding...
October 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30294674/-mt-cyb-deletion-in-an-encephalomyopathy-with-hyperintensity-of-middle-cerebellar-peduncles
#5
Annabelle Chaussenot, Cécile Rouzier, Konstantina Fragaki, Sabrina Sacconi, Samira Ait-El-Mkadem, Véronique Paquis-Flucklinger, Sylvie Bannwarth
No abstract text is available yet for this article.
October 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30283821/-ap4s1-splice-site-mutation-in-a-case-of-spastic-paraplegia-type-52-with-polymicrogyria
#6
Susana Carmona, Clara Marecos, Marta Amorim, Ana C Ferreira, Carla Conceição, José Brás, Sofia T Duarte, Rita Guerreiro
No abstract text is available yet for this article.
October 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30283820/dress-after-iv-phenytoin-associated-with-cytochrome-p450-cyp2c9-3-homozygosity
#7
Mette S Nissen, Christoph P Beier
No abstract text is available yet for this article.
October 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30283819/cadasil-affecting-a-black-african-man
#8
Louis Vlok, Naeem Brey
No abstract text is available yet for this article.
October 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30283818/deoxyguanosine-kinase-mutation-producing-juvenile-onset-mitochondrial-myopathy
#9
F N U Komal, Paolo M Moretti, Aziz I Shaibani
No abstract text is available yet for this article.
October 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30283817/homozygosity-for-scn4a-arg1142gln-causes-congenital-myopathy-with-variable-disease-expression
#10
Christine K Sloth, Federico Denti, Nicole Schmitt, Bo Hjorth Bentzen, Christina Fagerberg, John Vissing, David Gaist
No abstract text is available yet for this article.
October 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30283816/protein-network-analysis-reveals-selectively-vulnerable-regions-and-biological-processes-in-ftd
#11
Luke W Bonham, Natasha Z R Steele, Celeste M Karch, Claudia Manzoni, Ethan G Geier, Natalie Wen, Aaron Ofori-Kuragu, Parastoo Momeni, John Hardy, Zachary A Miller, Christopher P Hess, Patrick Lewis, Bruce L Miller, William W Seeley, Sergio E Baranzini, Rahul S Desikan, Raffaele Ferrari, Jennifer S Yokoyama
Objective: The neuroanatomical profile of behavioral variant frontotemporal dementia (bvFTD) suggests a common biological etiology of disease despite disparate pathologic causes; we investigated the genetic underpinnings of this selective regional vulnerability to identify new risk factors for bvFTD. Methods: We used recently developed analytical techniques designed to address the limitations of genome-wide association studies to generate a protein interaction network of 63 bvFTD risk genes...
October 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30283815/genetic-landscape-of-pediatric-movement-disorders-and-management-implications
#12
Dawn Cordeiro, Garrett Bullivant, Komudi Siriwardena, Andrea Evans, Jeff Kobayashi, Ronald D Cohn, Saadet Mercimek-Andrews
Objective: To identify underlying genetic causes in patients with pediatric movement disorders by genetic investigations. Methods: All patients with a movement disorder seen in a single Pediatric Genetic Movement Disorder Clinic were included in this retrospective cohort study. We reviewed electronic patient charts for clinical, neuroimaging, biochemical, and molecular genetic features. DNA samples were used for targeted direct sequencing, targeted next-generation sequencing, or whole exome sequencing...
October 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30109272/confirming-tdp2-mutation-in-spinocerebellar-ataxia-autosomal-recessive-23-scar23
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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