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Migraine genetics

Xingkai An, Jie Fang, Qing Lin, Congxia Lu, Qilin Ma, Hongli Qu
Migraine is a common and disabling nervous system disease with a significant genetic predisposition. The sex hormones play an important role in the pathogenesis of migraine. However, the conclusions of the previous genetic relation studies are conflicting. The aim of this study is to determine whether variants in genes involved in estrogen receptor and estrogen hormone metabolism are related to Chinese migraine. By employing a case-control approach, 8 SNPs in the ESR1, ESR2, and CYP19A1 genes are studied in a cohort of 494 migraine cases and 533 controls...
October 24, 2016: Journal of Neurology
Gabriella Juhasz, Eva Csepany, Mate Magyar, Andrea Edit Edes, Nora Eszlari, Gabor Hullam, Peter Antal, Gyongyi Kokonyei, Ian Muir Anderson, John Francis William Deakin, Gyorgy Bagdy
One of the main effects of the endocannabinoid system in the brain is stress adaptation with presynaptic endocannabinoid receptor 1 (CB1 receptors) playing a major role. In the present study, we investigated whether the effect of the CB1 receptor coding CNR1 gene on migraine and its symptoms is conditional on life stress. In a cross-sectional European population (n = 2426), recruited from Manchester and Budapest, we used the ID-Migraine questionnaire for migraine screening, the Life Threatening Experiences questionnaire to measure recent negative life events (RLE), and covered the CNR1 gene with 11 SNPs...
October 19, 2016: Genes, Brain, and Behavior
Ali Sazci, Gensay Sazci, Bilgen Sazci, Emel Ergul, Halil Atilla Idrisoglu
BACKGROUND: Migraine is a common neurovascular disorder affecting 10 to 20 % of the world population usually subdivided into migraine with auro (MA) and migraine without auro (MO). Homocysteine is involved in the pathophysiology of a number of neurological disorders. Elevated levels of homocysteine in the plasma is produced by the MTHFR gene rs 1801133 and rs 1801131 variants as well as the NNMT gene rs 694539 variant. METHODS: With the polymerase chain reaction-restriction fragment length polymorphism method developed recently in our laboratory, we were able to show an association between the NNMT gene rs694539 variant and migraine for the first time...
December 2016: Journal of Headache and Pain
David S Younger
Headache disorders cause significant disability. The public and most health professionals tend to perceive migraine as a minor or trivial complaint. In the past decade, important epidemiologic studies enjoining extensive surveys, pathophysiologic and genetic insights, and revised headache classification paradigms have produced clear evidence of the public health importance of headache disorders. The Global Campaign to reduce the burden of headache worldwide known as "Lifting the Burden" was launched in 2004 by the World Health Organization, the International Headache Society, the World Headache Alliance, and the European Headache Federation...
November 2016: Neurologic Clinics
Carlos R Cámara-Lemarroy, Rene Rodriguez-Gutierrez, Roberto Monreal-Robles, Alejandro Marfil-Rivera
Migraine is a recurrent and commonly disabling primary headache disorder that affects over 17% of women and 5%-8% of men. Migraine susceptibility is multifactorial with genetic, hormonal and environmental factors all playing an important role. The physiopathology of migraine is complex and still not fully understood. Many different neuropeptides, neurotransmitters and brain pathways have been implicated. In connection with the myriad mechanisms and pathways implicated in migraine, a variety of multisystemic comorbidities (e...
September 28, 2016: World Journal of Gastroenterology: WJG
Padhraig Gormley, Verneri Anttila, Bendik S Winsvold, Priit Palta, Tonu Esko, Tune H Pers, Kai-How Farh, Ester Cuenca-Leon, Mikko Muona, Nicholas A Furlotte, Tobias Kurth, Andres Ingason, George McMahon, Lannie Ligthart, Gisela M Terwindt, Mikko Kallela, Tobias M Freilinger, Caroline Ran, Scott G Gordon, Anine H Stam, Stacy Steinberg, Guntram Borck, Markku Koiranen, Lydia Quaye, Hieab H H Adams, Terho Lehtimäki, Antti-Pekka Sarin, Juho Wedenoja, David A Hinds, Julie E Buring, Markus Schürks, Paul M Ridker, Maria Gudlaug Hrafnsdottir, Hreinn Stefansson, Susan M Ring, Jouke-Jan Hottenga, Brenda W J H Penninx, Markus Färkkilä, Ville Artto, Mari Kaunisto, Salli Vepsäläinen, Rainer Malik, Andrew C Heath, Pamela A F Madden, Nicholas G Martin, Grant W Montgomery, Mitja I Kurki, Mart Kals, Reedik Mägi, Kalle Pärn, Eija Hämäläinen, Hailiang Huang, Andrea E Byrnes, Lude Franke, Jie Huang, Evie Stergiakouli, Phil H Lee, Cynthia Sandor, Caleb Webber, Zameel Cader, Bertram Muller-Myhsok, Stefan Schreiber, Thomas Meitinger, Johan G Eriksson, Veikko Salomaa, Kauko Heikkilä, Elizabeth Loehrer, Andre G Uitterlinden, Albert Hofman, Cornelia M van Duijn, Lynn Cherkas, Linda M Pedersen, Audun Stubhaug, Christopher S Nielsen, Minna Männikkö, Evelin Mihailov, Lili Milani, Hartmut Göbel, Ann-Louise Esserlind, Anne Francke Christensen, Thomas Folkmann Hansen, Thomas Werge, Jaakko Kaprio, Arpo J Aromaa, Olli Raitakari, M Arfan Ikram, Tim Spector, Marjo-Riitta Järvelin, Andres Metspalu, Christian Kubisch, David P Strachan, Michel D Ferrari, Andrea C Belin, Martin Dichgans, Maija Wessman, Arn M J M van den Maagdenberg, John-Anker Zwart, Dorret I Boomsma, George Davey Smith, Kari Stefansson, Nicholas Eriksson, Mark J Daly, Benjamin M Neale, Jes Olesen, Daniel I Chasman, Dale R Nyholt, Aarno Palotie
No abstract text is available yet for this article.
September 28, 2016: Nature Genetics
L C Alvaro-Gonzalez
INTRODUCTION: Migraine is a very common disorder with a raising incidence. The theory of evolution allow us to explain the emergence of the disorder, due to the advantages that the overreactivity to stimulus provided to ancestral groups of Homo sapiens, and a greater presence of the disorder in modern societies, based in the interactions with external factors. Herein we analyze these points. DEVELOPMENT: Design of organisms and their responses to environmental factors emerge to improve survival...
October 1, 2016: Revista de Neurologia
K R Peck, Y L Johnson, T A Smitherman
This chapter presents an overview of migraine epidemiology and mechanisms. Migraine is a common and disabling neurologic disorder characterized by episodic attacks of severe head pain and other symptoms, including interference with activity, nausea, and sensitivity to light and sound. A number of risk factors for migraine onset and progression have been identified, including the presence of comorbid disorders and overuse of acute headache medications. Though the pathophysiology of migraine is complex and incompletely understood, advances in genetics research and clinical trials methodology offer promise for better understanding the underlying pathophysiologic mechanisms...
2016: Handbook of Clinical Neurology
Vincenzo Guidetti, Noemi Faedda, Michael Siniatchkin
It is well documented that headache is a multifactorial disorder which includes not only genetic, biological, medical and neuropsychological factor but also psychological and personality traits. The close relationship between stress and migraine attacks and the significant psychiatric comorbidities in migraine provide evidence of a "paradigm" of tight interaction between somatic and psychological aspects in paediatric migraine. In particular in younger children, an uncomfortable situation, a psychological problem or an emotional distress is rarely expressed directly but usually through physical symptoms...
December 2016: Journal of Headache and Pain
Anine H Stam, Parul H Kothari, Aisha Shaikh, Andreas Gschwendter, Joanna C Jen, Suzanne Hodgkinson, Todd A Hardy, Michael Hayes, Peter A Kempster, Katya E Kotschet, Ingeborg M Bajema, Sjoerd G van Duinen, Marion L C Maat-Schieman, Paulus T V M de Jong, Marc D de Smet, Didi de Wolff-Rouendaal, Greet Dijkman, Nadine Pelzer, Grant R Kolar, Robert E Schmidt, JoAnne Lacey, Daniel Joseph, David R Fintak, M Gilbert Grand, Elizabeth M Brunt, Helen Liapis, Rula A Hajj-Ali, Mark C Kruit, Mark A van Buchem, Martin Dichgans, Rune R Frants, Arn M J M van den Maagdenberg, Joost Haan, Robert W Baloh, John P Atkinson, Gisela M Terwindt, Michel D Ferrari
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused by C-terminal frame-shift mutations in TREX1, which was termed 'retinal vasculopathy with cerebral leukodystrophy'. Here we defined the genetic and clinicopathologic spectrum of this clinically and pathophysiologically poorly characterized and frequently misdiagnosed fatal neurovascular disorder...
September 6, 2016: Brain: a Journal of Neurology
Shuhan Zhu, Stephanie J Nahas
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene located on chromosome 19p13. CADASIL causes a clinical syndrome of migraines (frequently with aura), progressive strokes, and cognitive decline in adults leading to severe functional impairment by the seventh decade of life. Genetic testing is the gold standard for diagnosing this condition, but the syndrome can be suspected clinically based on history and a characteristic pattern of confluent subcortical white matter disease in the anterior temporal poles and external capsule...
October 2016: Current Pain and Headache Reports
Padhraig Gormley, Bendik S Winsvold, Dale R Nyholt, Mikko Kallela, Daniel I Chasman, Aarno Palotie
No abstract text is available yet for this article.
2016: Genome Medicine
S Kiando, N Tucker, L Castro-Vega, D Cusi, P Galan, Empana J-P, J Olin, H Gornik, P-F Plouin, I Kullo, D Milan, S Ganesh, P Boutouyrie, J Kovacic, X Jeunemaitre, N Bouatia-Naji
OBJECTIVE: Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, dissection and aneurysm affecting mainly the renal and cerebrovascular arteries. FMD has higher prevalence in females (80-90%) and predisposes to hypertension and stroke but its pathophysiology is unclear. DESIGN AND METHOD: We performed a multistage genetic association study (1,154 patients and 3,895 controls) from five case-control cohorts. We investigated the association between rs9349379 in the phosphatase and actin regulator 1 gene (PHACTR1) and carotid traits by echo-tracking in healthy volunteers, the expression of PHACTR1 by genotypes in human fibroblasts, protein staining pattern in human carotids, and vasculature development after Phactr1 knockdown in zebrafish...
September 2016: Journal of Hypertension
Gisela Chelimsky, Katja Kovacic, Pippa Simpson, Melodee Nugent, Donald Basel, Julie Banda, Thomas Chelimsky
OBJECTIVE: To determine if children with benign joint hypermobility (BJH) syndrome and chronic functional pain disorders have more autonomic dysfunction. STUDY DESIGN: Retrospective chart review study of pediatric patients seen in the pediatric neurogastroenterology and autonomic clinic who underwent autonomic testing and had either a Beighton score of ≥6 and met Brighton criteria for BJH (with BJH) or a score of ≤2 (no BJH). RESULTS: Twenty-one female subjects (10 without BJH) met inclusion criteria; 64% of BJH had diagnosis confirmed by genetics consultation...
October 2016: Journal of Pediatrics
Yavuz Yücel, Salih Coşkun, Beyhan Cengiz, Hasan H Özdemir, Ertuğrul Uzar, Abdullah Çim, M Akif Camkurt, M Ufuk Aluclu
OBJECTIVE: Migraine, a highly prevelant headache disorder, is regarded as a polygenic multifactorial disease. Serotonin (5-HT) and their respective receptors have been implicated in the patogenesis. METHODS: We investigated the 5-HT1A, 5-HT1B, 5-HT2A, and 5-HT2C receptor gene polymorphisms and their association with migraine in Turkish patients. The rs6295, rs1300060, rs1228814, rs6311, rs6313, rs6314, rs6318, rs3813929 (-759C/T) and rs518147 polymorphisms were analyzed in 135 patients with migraine and 139 healthy subjects, using a BioMark 96...
August 31, 2016: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
Salih Coskun, Sefer Varol, Hasan H Ozdemir, Elif Agacayak, Birsen Aydın, Oktay Kapan, Mehmet Akif Camkurt, Saban Tunc, Mehmet Ugur Cevik
Migraine is one of the most common neurological diseases worldwide. Migraine pathophysiology is very complex. Genetic factors play a major role in migraine. Neurotrophic factors, such as brain-derived neurotrophic factor (BDNF) and nerve growth factor (NGF), play an important role in central nervous system functioning, development, and modulation of pain. This study investigates whether polymorphisms in the BDNF and NGF genes are associated with migraine disease in a Turkish case-control population. Overall, 576 subjects were investigated (288 patients with migraine and 288 healthy controls) for the following polymorphisms: rs6265(G/A), rs8192466(C/T), rs925946(G/T), rs2049046(A/T), and rs12273363(T/C) in the BDNF gene, and rs6330(C/T), rs11466112(C/T), rs11102930(C/A), and rs4839435(G/A) in the NGF gene using 5'-exonuclease allelic discrimination assays...
2016: Neuropsychiatric Disease and Treatment
Dan Sucksdorff, Alan S Brown, Roshan Chudal, Markus Heinimaa, Auli Suominen, Andre Sourander
BACKGROUND: Genetic studies imply a shared genetic etiology between bipolar disorder (BD) and migraine. Epidemiological studies have demonstrated elevated comorbidity between these disorders, but haven't controlled for parental psychopathology. No previous nationally representative studies exist on familial clustering of BD and migraine. This study examines the association between parental and comorbid migraine and BD, controlling for potential confounders. METHODS: We identified 1861 cases aged ≤25 years, 3643 matched controls, and their parents from Finnish national registers...
July 19, 2016: Journal of Affective Disorders
Xiaoxia Hou, Hong Cheng, Qingwen Jin, Qi Niu, Feifei Shen, Juan Yao, Xinsheng Ding
OBJECTIVE: To analyze the clinical features and genetic cause for a family affected with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). METHODS: Clinical manifestations, neuroimaging, and genetic analysis were performed. RESULTS: The main clinical features have included stroke, emotional disturbance and history of migraine without progressive memory impairment. A positive family history was confirmed...
August 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Hai-Shan Jiang, Dong-Mei Wang, Qun Wang, Man Yang, Wei Wang, Su-Yue Pan, Ya-Fang Hu
OBJECTIVE: Mutations in CACNA1A, which encodes the P/Q-type calcium channel subunit, are responsible for at least 3 allelic diseases, namely type 2 episodic ataxia (EA-2), familial hemiplegic migraine?type-1 (FHM1), and spinocerebellar ataxia type-6?(SCA 6). Herein we present a case of ataxia with episodic tremors in a 19-year-old man with a missense mutation of CACNA1A gene and summarize the clinical features, genetic analysis and treatment in this case and in his affected family members...
June 20, 2016: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
Fenella Jane Kirkham
Pediatric neurology relies on ultrasound, computed tomography (CT), and magnetic resonance (MR) imaging. CT prevails in acute neurologic presentations, including traumatic brain injury (TBI), nontraumatic coma, stroke, and status epilepticus, because of easy availability, with images of diagnostic quality, e.g., to exclude hemorrhage, usually completed quickly enough to avoid sedation. Concerns over the risks of ionizing radiation mean re-imaging and higher-dose procedures, e.g., arteriography and venography, require justification...
2016: Handbook of Clinical Neurology
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