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Migraine genetics

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https://www.readbyqxmd.com/read/28900389/cerebellar-atrophy-and-changes-in-cytokines-associated-with-the-cacna1a-r583q-mutation-in-a-russian-familial-hemiplegic-migraine-type-1-family
#1
Svetlana F Khaiboullina, Elena G Mendelevich, Leyla H Shigapova, Elena Shagimardanova, Guzel Gazizova, Alexey Nikitin, Ekaterina Martynova, Yuriy N Davidyuk, Enver I Bogdanov, Oleg Gusev, Arn M J M van den Maagdenberg, Rashid A Giniatullin, Albert A Rizvanov
Background: Immune mechanisms recently emerged as important contributors to migraine pathology with cytokines affecting neuronal excitation. Therefore, elucidating the profile of cytokines activated in various forms of migraine, including those with a known genetic cause, can help in diagnostic and therapeutic approaches. Methods: Here we (i) performed exome sequencing to identify the causal gene mutation and (ii) measured, using Bio-Plex technology, 22 cytokines in serum of patients with familial migraine (two with hemiplegic migraine and two with migraine with aura) from a Russian family that ethnically belongs to the Tatar population...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28870817/-prrt2-mutation-and-infantile-convulsions
#2
M Mathot, D Lederer, S Gerard, E Gueulette, M Deprez
New genetic techniques have made it possible to better understand the implications of the PRRT2 gene (proline rich transmembrane protein 2) in various neurological disorders. Mutations within this gene are responsible for kinesigenic paroxysmal dyskinesias (PKD) as well as for benign familial infantile epilepsy (BFIE), a disease associating infantile convulsions and choreoathetosis (ICCA), a form of familial hemiplegic migraine (FHM type 4), paroxysmal benign torticollis of childhood, and episodic ataxia. We describe the case of an infant, carrying a mutation of the PRRT2 gene, with a classical presentation...
September 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28870085/a-systematic-review-and-critical-appraisal-of-gene-polymorphism-association-studies-in-medication-overuse-headache
#3
Sarah Cargnin, Michele Viana, Grazia Sances, Cristina Tassorelli, Salvatore Terrazzino
Purpose of review Medication-overuse headache is a secondary chronic headache disorder, evolving from an episodic primary headache type, caused by the frequent and excessive use of headache symptomatic drugs. While gene polymorphisms have been deeply investigated as susceptibility factors for migraine, little attention has been paid to medication-overuse headache genetics. In the present study we conducted a systematic review to identify, appraise and summarize the current findings of gene polymorphism association studies in medication-overuse headache...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28856914/ten-years-of-follow-up-in-a-large-family-with-familial-hemiplegic-migraine-type-1-clinical-course-and-implications-for-treatment
#4
Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Evelin Donnemiller, Michaela Wagner, Iris Unterberger, Sylvia Boesch
Background Familial hemiplegic migraine (FHM) is a rare, genetic form of migraine with aura. The severity of the aura imposes an effective prophylaxis that is currently based on standard anti-migraine drugs. To this concern, only short-term reports are currently available. Methods Eight patients from a multigenerational FHM type 1 family harbouring a T666M mutation in the CACNA1A gene were referred to our ataxia outpatient clinic. Medical history, general and neurological examination as well as therapeutic approaches were recorded regularly on a routine basis for an average period of 13 years (range 9-15 years)...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28856911/sunlight-irradiance-and-habituation-of-visual-evoked-potentials-in-migraine-the-environment-makes-its-mark
#5
Marco Lisicki, Kevin D'Ostilio, Michel Erpicum, Jean Schoenen, Delphine Magis
Background Migraine is a complex multifactorial disease that arises from the interaction between a genetic predisposition and an enabling environment. Habituation is considered as a fundamental adaptive behaviour of the nervous system that is often impaired in migraine populations. Given that migraineurs are hypersensitive to light, and that light deprivation is able to induce functional changes in the visual cortex recognizable through visual evoked potentials habituation testing, we hypothesized that regional sunlight irradiance levels could influence the results of visual evoked potentials habituation studies performed in different locations worldwide...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28811059/an-infant-with-epilepsy-and-recurrent-hemiplegia-due-to-compound-heterozygous-variants-in-atp1a2
#6
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
#7
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...
September 2017: Nature Genetics
https://www.readbyqxmd.com/read/28767512/dissecting-the-role-of-the-crmp2-neurofibromin-complex-on-pain-behaviors
#8
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
#9
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
#10
Sheng Chen, Wang Ni, Xin-Zhen Yin, Han-Qiu Liu, Cong Lu, Qiao-Juan Zheng, Gui-Xian Zhao, Yong-Feng 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...
September 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28699403/rna-seq-investigations-of-human-post-mortem-trigeminal-ganglia
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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