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Migraine genetics

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https://www.readbyqxmd.com/read/28811059/an-infant-with-epilepsy-and-recurrent-hemiplegia-due-to-compound-heterozygous-variants-in-atp1a2
#1
Colin Wilbur, Sarah E Buerki, Ilaria Guella, Eric B Toyota, Daniel M Evans, Marna B McKenzie, Anita Datta, Aspasia Michoulas, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Matthew J Farrer, Mary B Connolly, Michelle Demos
BACKGROUND: Pathogenic heterozygous variants in the ATP1A2 gene have most commonly been associated with familial hemiplegic migraine. However, a wide spectrum of phenotypes that include alternating hemiplegia of childhood and epilepsy have been described. PATIENT DESCRIPTION: We describe a boy who presented at age three months with a complex phenotype that included epilepsy, nonepileptic paroxysmal events, and recurrent hemiplegia. Magnetic resonance imaging demonstrated unilateral cortical edema during a severe episode of hemiplegia that was followed by a persistent mild hemiparesis...
June 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28783162/classification-of-common-human-diseases-derived-from-shared-genetic-and-environmental-determinants
#2
Kanix Wang, Hallie Gaitsch, Hoifung Poon, Nancy J Cox, Andrey Rzhetsky
In this study, we used insurance claims for over one-third of the entire US population to create a subset of 128,989 families (481,657 unique individuals). We then used these data to (i) estimate the heritability and familial environmental patterns of 149 diseases and (ii) infer the genetic and environmental correlations for disease pairs from a set of 29 complex diseases. The majority (52 of 65) of our study's heritability estimates matched earlier reports, and 84 of our estimates appear to have been obtained for the first time...
August 7, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28767512/dissecting-the-role-of-the-crmp2-neurofibromin-complex-on-pain-behaviors
#3
Aubin Moutal, Yue Wang, Xiaofang Yang, Yingshi Ji, Shizhen Luo, Angie Dorame, Shreya S Bellampalli, Lindsey A Chew, Song Cai, Erik T Dustrude, James E Keener, Michael T Marty, Todd W Vanderah, Rajesh Khanna
Neurofibromatosis type 1 (NF1), a genetic disorder linked to inactivating mutations or homozygous deletion of the Nf1 gene, is characterized by tumorigenesis, cognitive dysfunction, seizures, migraine, and pain. Omic studies on human NF1 tissues identified an increase in expression of collapsin response mediator protein 2 (CRMP2), a cytosolic protein reported to regulate the trafficking and activity of presynaptic N-type voltage-gated calcium (Cav2.2) channels. Since neurofibromin, the protein product of the Nf1 gene, binds to and inhibits CRMP2, the neurofibromin-CRMP2 signaling cascade will likely affect Ca2+ channel activity and regulate nociceptive neurotransmission and in vivo responses to noxious stimulation...
July 31, 2017: Pain
https://www.readbyqxmd.com/read/28753427/a-genetic-variant-associated-with-five-vascular-diseases-is-a-distal-regulator-of-endothelin-1-gene-expression
#4
Rajat M Gupta, Joseph Hadaya, Aditi Trehan, Seyedeh M Zekavat, Carolina Roselli, Derek Klarin, Connor A Emdin, Catharina R E Hilvering, Valerio Bianchi, Christian Mueller, Amit V Khera, Russell J H Ryan, Jesse M Engreitz, Robbyn Issner, Noam Shoresh, Charles B Epstein, Wouter de Laat, Jonathan D Brown, Renate B Schnabel, Bradley E Bernstein, Sekar Kathiresan
Genome-wide association studies (GWASs) implicate the PHACTR1 locus (6p24) in risk for five vascular diseases, including coronary artery disease, migraine headache, cervical artery dissection, fibromuscular dysplasia, and hypertension. Through genetic fine mapping, we prioritized rs9349379, a common SNP in the third intron of the PHACTR1 gene, as the putative causal variant. Epigenomic data from human tissue revealed an enhancer signature at rs9349379 exclusively in aorta, suggesting a regulatory function for this SNP in the vasculature...
July 27, 2017: Cell
https://www.readbyqxmd.com/read/28710804/clinical-features-and-mutation-spectrum-in-chinese-patients-with-cadasil-a-multicenter-retrospective-study
#5
Sheng Chen, Wang Ni, Xinzhen Yin, Han-Qiu Liu, Cong Lu, Qiao-Juan Zheng, Gui-Xian Zhao, Yongfeng Xu, Lei Wu, Liang Zhang, Ning Wang, Hong-Fu Li, Zhi-Ying Wu
AIM: To characterize clinical features and mutation spectrum in Chinese patients with CADASIL. METHODS: We collected 261 clinically suspected Chinese CADASIL patients from three hospitals located in different regions of China. Sanger sequencing is performed to screen the exons 2 to 24 of NOTCH3 gene. Clinical and genetic data were retrospectively studied. Haplotype analyses were performed in patients carrying p.Arg544Cys and p.Arg607Cys, respectively. RESULTS: A total of 214 patients were finally genetically diagnosed as CADASIL, with 45 known NOTCH3 mutations and a novel c...
July 14, 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28699403/rna-seq-investigations-of-human-post-mortem-trigeminal-ganglia
#6
Danielle M LaPaglia, Matthew R Sapio, Peter D Burbelo, Jean Thierry-Mieg, Danielle Thierry-Mieg, Stephen J Raithel, Christopher E Ramsden, Michael J Iadarola, Andrew J Mannes
Background The trigeminal ganglion contains neurons that relay sensations of pain, touch, pressure, and many other somatosensory modalities to the central nervous system. The ganglion is also a reservoir for latent herpes virus 1 infection. To gain a better understanding of molecular factors contributing to migraine and headache, transcriptome analyses were performed on postmortem human trigeminal ganglia. Methods RNA-Seq measurements of gene expression were conducted on small sub-regions of 16 human trigeminal ganglia...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28692828/sleep-bruxism-and-related-risk-factors-in-adults-a-systematic-literature-review
#7
REVIEW
Tommaso Castroflorio, Andrea Bargellini, Gabriele Rossini, Giovanni Cugliari, Andrea Deregibus
OBJECTIVE: The aim of this article was to systematically review the literature to assess the relationship between risk factors and sleep bruxism (SB) in adults (age ≥18 years). DESIGN: A systematic search of the following databases was carried out: PubMed, Embase, Scopus, Cochrane Oral Health Group's Trial Register and Cochrane Register of Controlled Trials, Web of Science, LILACs and SciELO. Nine out of the 4583 initially identified articles were selected. This review was conducted according to the guidelines from the Cochrane Handbook for Systematic Reviews of Interventions, with reporting in agreement to the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines...
July 5, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28690582/decreased-openness-to-experience-is-associated-with-migraine-type-headaches-in-subjects-with-lifetime-depression
#8
Mate Magyar, Xenia Gonda, Dorottya Pap, Andrea Edes, Attila Galambos, Daniel Baksa, Natalia Kocsel, Edina Szabo, Gyorgy Bagdy, Rebecca Elliott, Gyongyi Kokonyei, Gabriella Juhasz
INTRODUCTION: Migraine and depression frequently occur as comorbid conditions, and it has been hypothesized that migraine with and without depression may have a different genetic background. A distinct personality trait constellation has been described in migraineurs. Less attention, however, was paid to personality differences in migraineurs with and without depression which may also shed light on differences in the neurobiological, background. The aim of our study was to investigate big five personality traits, headaches, and lifetime depression (DEP) in a large European general population sample...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28681617/depression-comorbidity-in-migraine
#9
Farnaz Amoozegar
Migraine and Major Depressive Disorder (MDD) are highly prevalent conditions that can lead to significant disability. These conditions are often comorbid, and several studies shed light on the underlying reasons for this comorbidity. The purpose of this review article is to have a closer look at the epidemiology, pathophysiology, genetic and environmental factors, temporal association, treatment options, and prognosis of patients suffering from both conditions, to allow a better understanding of what factors underlie this comorbidity...
July 6, 2017: International Review of Psychiatry
https://www.readbyqxmd.com/read/28656458/a-genetic-risk-score-is-differentially-associated-with-migraine-with-and-without-aura
#10
Claudia Pisanu, Martin Preisig, Enrique Castelao, Jennifer Glaus, Giorgio Pistis, Alessio Squassina, Maria Del Zompo, Kathleen R Merikangas, Gérard Waeber, Peter Vollenweider, Jessica Mwinyi, Helgi B Schiöth
Although a number of migraine-associated single-nucleotide polymorphisms (SNP) with small effect size have been identified, little is known about the additive impact of these variants on migraine risk, frequency and severity. We investigated to what extent a genetic risk score (GRS) based on recently published, novel migraine-associated SNPs is associated with migraine prevalence, subtypes and severity in a large population-based sample. The sample comprised 446 subjects with migraine and 2511 controls from the CoLaus/PsyCoLaus study...
August 2017: Human Genetics
https://www.readbyqxmd.com/read/28645128/-headache-news
#11
Hans-Christoph Diener, Charly Gaul, Dagny Holle-Lee, Lazaros Lazaridis, Steffen Nägel, Mark Obermann
A review of the latest and most relevant information on different disorders of head and facial pain is presented. News from epidemiologic studies regarding the relationship between migraine and patent foramen ovale, the cardiovascular risk in migraine, and migraine behavior during menopause, and the development of white matter lesions or migraine genetics are presented. Regarding pathophysiology there are very recent insights regarding the role of the hypothalamus during prodromal phase and the interplay of brain-stem and hypothalamus during the attack...
June 2017: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/28644851/comorbidities-in-the-diseasome-are-more-apparent-than-real-what-bayesian-filtering-reveals-about-the-comorbidities-of-depression
#12
Peter Marx, Peter Antal, Bence Bolgar, Gyorgy Bagdy, Bill Deakin, Gabriella Juhasz
Comorbidity patterns have become a major source of information to explore shared mechanisms of pathogenesis between disorders. In hypothesis-free exploration of comorbid conditions, disease-disease networks are usually identified by pairwise methods. However, interpretation of the results is hindered by several confounders. In particular a very large number of pairwise associations can arise indirectly through other comorbidity associations and they increase exponentially with the increasing breadth of the investigated diseases...
June 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28627999/heritability-and-genome-wide-associations-studies-of-cerebral-blood-flow-in-the-general-population
#13
M Arfan Ikram, Hazel I Zonneveld, Gennady Roshchupkin, Albert V Smith, Oscar H Franco, Sigurdur Sigurdsson, Cornelia van Duijn, André G Uitterlinden, Lenore J Launer, Meike W Vernooij, Vilmundur Gudnason, Hieab Hh Adams
Cerebral blood flow is an important process for brain functioning and its dysregulation is implicated in multiple neurological disorders. While environmental risk factors have been identified, it remains unclear to what extent the flow is regulated by genetics. Here we performed heritability and genome-wide association analyses of cerebral blood flow in a population-based cohort study. We included 4472 persons free of cortical infarcts who underwent genotyping and phase-contrast magnetic resonance flow imaging (mean age 64...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28622417/the-anti-migraine-component-of-butterbur-extracts-isopetasin-desensitizes-peptidergic-nociceptors-by-acting-on-trpa1-cation-channel
#14
Silvia Benemei, Francesco De Logu, Simone Li Puma, Ilaria Maddalena Marone, Elisabetta Coppi, Filippo Ugolini, Wolfgang Liedtke, Federica Pollastro, Giovanni Appendino, Pierangelo Geppetti, Serena Materazzi, Romina Nassini
BACKGROUND AND PURPOSE: The mechanism of the anti-migraine action of extracts of butterbur [Petasites hybridus (L.) Gaertn.] is unknown. Here, we investigated the ability of isopetasin, a major constituent of these extracts, to specifically target TRPA1 channel and to affect functional responses relevant to migraine. EXPERIMENTAL APPROACH: Single-cell calcium imaging and patch-clamp recordings in human and rodent TRPA1-expressing cells, neurogenic motor responses in rodent isolated urinary bladder, release of CGRP from mouse spinal cord in vitro and facial rubbing in mice and meningeal blood flow in rats were examined...
September 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28593511/de-novo-exonic-duplication-of-atp1a2-in-italian-patient-with-hemiplegic-migraine-a-case-report
#15
Stella Gagliardi, Gaetano Salvatore Grieco, Francesca Gualandi, Luisa Maria Caniatti, Elisabetta Groppo, Marialuisa Valente, Giuseppe Nappi, Marcella Neri, Cristina Cereda
BACKGROUND: Sporadic Hemiplegic Migraine is a rare form of migraine headache. Mutations in three different genes, two ion-channel genes and one encoding an ATP exchanger, CACNA1A, ATP1A2 and SCN1A are all responsible for the FHM phenotype, thus indicating a genetic heterogeneity for this disorder. Here, we described a de novo exonic duplication of ATP1A2 in an Italian patient with Hemiplegic Migraine. CASE PRESENTATION: We describe the case of a young woman (33 year old) who suffered from the age of 8 years of episodic weakness of the limbs, associated to other subjective and objective features...
December 2017: Journal of Headache and Pain
https://www.readbyqxmd.com/read/28554243/functional-interactions-between-transient-receptor-potential-m8-and-transient-receptor-potential-v1-in-the-trigeminal-system-relevance-to-migraine-pathophysiology
#16
Yohei Kayama, Mamoru Shibata, Tsubasa Takizawa, Keiji Ibata, Toshihiko Shimizu, Taeko Ebine, Haruki Toriumi, Michisuke Yuzaki, Norihiro Suzuki
Background Recent genome-wide association studies have identified transient receptor potential M8 ( TRPM8) as a migraine susceptibility gene. TRPM8 is a nonselective cation channel that mediates cool perception. However, its precise role in migraine pathophysiology is elusive. Transient receptor potential V1 (TRPV1) is a nonselective cation channel activated by noxious heat. Both TRPM8 and TRPV1 are expressed in trigeminal ganglion (TG) neurons. Methods We investigated the functional roles of TRPM8 and TRPV1 in a meningeal inflammation-based migraine model by measuring the effects of facial TRPM8 activation on thermal allodynia and assessing receptor coexpression changes in TG neurons...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28545508/open-label-versus-double-blind-placebo-treatment-in-irritable-bowel-syndrome-study-protocol-for-a-randomized-controlled-trial
#17
Sarah Ballou, Ted J Kaptchuk, William Hirsch, Judy Nee, Johanna Iturrino, Kathryn T Hall, John M Kelley, Vivian Cheng, Irving Kirsch, Eric Jacobson, Lisa Conboy, Anthony Lembo, Roger B Davis
BACKGROUND: Placebo medications, by definition, are composed of inactive ingredients that have no physiological effect on symptoms. Nonetheless, administration of placebo in randomized controlled trials (RCTs) and in clinical settings has been demonstrated to have significant impact on many physical and psychological complaints. Until recently, conventional wisdom has suggested that patients must believe that placebo pills actually contain (or, at least, might possibly contain) active medication in order to elicit a response to placebo...
May 25, 2017: Trials
https://www.readbyqxmd.com/read/28534048/the-first-report-of-cadasil-in-peru-olfactory-dysfunction-on-initial-presentation
#18
Anastasia Vishnevetsky, Miguel Inca-Martinez, Karina Milla-Neyra, Danny Moises Barrientos-Iman, Ivan Cornejo-Herrera, Carlos Cosentino, Mario Cornejo-Olivas
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, heritable, small vessel vascular disease caused by mutations in the Notch3 gene that is characterized by migraines, subcortical vascular events, cognitive decline, and mood disturbances. However, many CADASIL cases present with unusual symptoms such as status epilepticus, a movement disorder, or sensory dysfunction. This study describes the clinical, genetic, and radiologic characteristics of a Peruvian family with CADASIL in which multiple family members presented with severe olfactory deficits...
December 2016: ENeurologicalSci
https://www.readbyqxmd.com/read/28527083/shared-mechanisms-of-epilepsy-migraine-and-affective-disorders
#19
Davide Zarcone, Simona Corbetta
Since the nineteenth century several clinical features have been observed in common between migraine and epilepsy (such as episodic attacks, triggering factors, presence of aura, frequent familiarity), but only in recent years researchers have really engaged in finding a common pathogenic mechanism. From studies of disease incidence, we understand how either migraine among patients with epilepsy or epilepsy among migraine patients are more frequent than in the general population. This association may result from a direct causality, by the same environmental risk factors and/or by a common genetic susceptibility...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28520665/family-history-of-migraine-associated-with-posttraumatic-migraine-symptoms-following-sport-related-concussion
#20
Alicia Sufrinko, Jamie McAllister-Deitrick, R J Elbin, Michael W Collins, Anthony P Kontos
OBJECTIVE: To determine whether family history of migraine increased the likelihood of posttraumatic migraine (PTM) symptom presentation in adolescents following concussion, and examine the influence of family history of migraine and PTM on postinjury outcomes. SETTING: Outpatient concussion clinic. PARTICIPANTS: A total of 153 patients with concussion (103 males and 50 females) aged 15.72 ± 1.48 years (range 12-18 years). DESIGN: Cross-sectional, observational study of patients presenting for initial evaluation 4...
May 17, 2017: Journal of Head Trauma Rehabilitation
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