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Migraine genetics

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https://www.readbyqxmd.com/read/29779126/animal-models-of-chronic-migraine
#1
REVIEW
Tse-Ming Chou, Shih-Pin Chen
PURPOSE OF REVIEW: Chronic migraine (CM) is a recalcitrant subtype of migraine which causes high degrees of disability, poor treatment responses, and frequent recurrences in sufferers. However, the pathophysiological mechanisms underlying the development and chronification of migraine attacks remain incompletely understood. A validated animal model could help to decipher the pathogenic mechanism of the disease, facilitating the development of possible therapeutic strategies for CM. In this review, we aimed to summarize current animal models of CM and discuss the validity of these models...
May 19, 2018: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/29770609/whole-exome-sequencing-for-variant-discovery-in-blepharospasm
#2
Jun Tian, Satya R Vemula, Jianfeng Xiao, Enza Maria Valente, Giovanni Defazio, Simona Petrucci, Angelo Fabio Gigante, Monika Rudzińska-Bar, Zbigniew K Wszolek, Kathleen D Kennelly, Ryan J Uitti, Jay A van Gerpen, Peter Hedera, Elizabeth J Trimble, Mark S LeDoux
BACKGROUND: Blepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplete penetrance, and late age of onset. Although several genetic etiologies for dystonia have been identified through whole-exome sequencing (WES), none of these are characteristically associated with BSP as a singular or predominant manifestation...
May 16, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29732930/cephalic-cutaneous-allodynia-in-children-and-adolescents-with-migraine-of-short-duration-a-retrospective-cohort-study
#3
Yoel Levinsky, Avraham Zeharia, Tal Eidlitz-Markus
Background Allodynia is prevalent in adults with migraine and has been associated with long disease duration and severe course. Studies of the pediatric population are sparse. The aim of this study was to evaluate the rate of cephalic cutaneous allodynia in children and adolescents within the first 6 months of migraine onset and to identify associated clinical and migraine-related parameters. Methods The electronic database of a tertiary pediatric headache clinic from 2014 to 2017 was retrospectively searched for all children and adolescents diagnosed with migraine headache within 6 months or less of symptom onset...
January 1, 2018: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/29732528/medical-comorbidities-in-bipolar-disorder
#4
REVIEW
Aktriti Sinha, Anam Shariq, Khaled Said, Abhinav Sharma, D Jeffrey Newport, Ihsan M Salloum
PURPOSE OF REVIEW: Bipolar disorder (BD) medical comorbidity presents significant clinical and public health concerns with serious impact on health. The aim of this article is to present an updated narrative review of original research articles (case control, longitudinal cohort, and cross-sectional studies) and meta-analyses published in English language journals from January 2013 to May 2017 focusing on general medical comorbidity in BD, including the added risks of iatrogenic factors relevant to the treatment of BD...
May 7, 2018: Current Psychiatry Reports
https://www.readbyqxmd.com/read/29731251/common-variant-burden-contributes-to-the-familial-aggregation-of-migraine-in-1-589-families
#5
Padhraig Gormley, Mitja I Kurki, Marjo Eveliina Hiekkala, Kumar Veerapen, Paavo Häppölä, Adele A Mitchell, Dennis Lal, Priit Palta, Ida Surakka, Mari Anneli Kaunisto, Eija Hämäläinen, Salli Vepsäläinen, Hannele Havanka, Hanna Harno, Matti Ilmavirta, Markku Nissilä, Erkki Säkö, Marja-Liisa Sumelahti, Jarmo Liukkonen, Matti Sillanpää, Liisa Metsähonkala, Seppo Koskinen, Terho Lehtimäki, Olli Raitakari, Minna Männikkö, Caroline Ran, Andrea Carmine Belin, Pekka Jousilahti, Verneri Anttila, Veikko Salomaa, Ville Artto, Markus Färkkilä, Heiko Runz, Mark J Daly, Benjamin M Neale, Samuli Ripatti, Mikko Kallela, Maija Wessman, Aarno Palotie
Complex traits, including migraine, often aggregate in families, but the underlying genetic architecture behind this is not well understood. The aggregation could be explained by rare, penetrant variants that segregate according to Mendelian inheritance or by the sufficient polygenic accumulation of common variants, each with an individually small effect, or a combination of the two hypotheses. In 8,319 individuals across 1,589 migraine families, we calculated migraine polygenic risk scores (PRS) and found a significantly higher common variant burden in familial cases (n = 5,317, OR = 1...
April 27, 2018: Neuron
https://www.readbyqxmd.com/read/29723522/transcriptomic-profiling-of-trigeminal-nucleus-caudalis-and-spinal-cord-dorsal-horn
#6
Lisette J A Kogelman, Rikke Elgaard-Christensen, Jes Olesen, Inger Jansen-Olesen, Thomas F Hansen
The pain sensation system is highly conserved among species, thus animal models have been used to investigate relevant tissues. The focus for head-specific pain has been on the primary nociceptive neurons in the trigeminal pathway, i.e. trigeminal ganglia. The secondary nociceptive neurons of the trigeminal pathway, trigeminal nucleus caudalis (TNC), have not been assessed. We expect different gene expression profiles compared to the homologous spinal cord dorsal horn (SDH), as several signalling substances provoke head-specific pain but not peripheral pain...
April 30, 2018: Brain Research
https://www.readbyqxmd.com/read/29723195/human-local-adaptation-of-the-trpm8-cold-receptor-along-a-latitudinal-cline
#7
Felix M Key, Muslihudeen A Abdul-Aziz, Roger Mundry, Benjamin M Peter, Aarthi Sekar, Mauro D'Amato, Megan Y Dennis, Joshua M Schmidt, Aida M Andrés
Ambient temperature is a critical environmental factor for all living organisms. It was likely an important selective force as modern humans recently colonized temperate and cold Eurasian environments. Nevertheless, as of yet we have limited evidence of local adaptation to ambient temperature in populations from those environments. To shed light on this question, we exploit the fact that humans are a cosmopolitan species that inhabit territories under a wide range of temperatures. Focusing on cold perception-which is central to thermoregulation and survival in cold environments-we show evidence of recent local adaptation on TRPM8...
May 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29706439/recognition-of-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-cadasil-in-two-oligosymptomatic-sisters-with-low-cadasil-scale-scores-and-a-venous-dysplasia-report-of-a-novel-greek-family
#8
George P Paraskevas, Vasilios C Constantinides, Christos Yapijakis, Evangelia Kararizou, Elisabeth N Kapaki, Anastasia Bougea
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) due to mutations of the NOTCH3 gene is the most common cause of inherited cerebral small-vessel disease and one of the genetic causes of migraine with aura. The so-called CADASIL scale has been proposed as a clinical screening tool, and a score of 15 or higher seems useful in identifying patients with high probability of carrying NOTCH3 mutations. We studied a novel Greek family with clinical features compatible with CADASIL...
April 26, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29671086/the-nrp1-migraine-risk-variant-shows-evidence-of-association-with-menstrual-migraine
#9
Charmaine E Pollock, Heidi G Sutherland, Bridget H Maher, Rodney A Lea, Larisa M Haupt, Alison Frith, E Anne MacGregor, Lyn R Griffiths
BACKGROUND: In 2016, a large meta-analysis brought the number of susceptibility loci for migraine to 38. While sub-type analysis for migraine without aura (MO) and migraine with aura (MA) found some loci showed specificity to MO, the study did not test the loci with respect to other subtypes of migraine. This study aimed to test the hypothesis that single nucleotide polymorphisms (SNPs) robustly associated with migraine are individually or collectively associated with menstrual migraine (MM)...
April 18, 2018: Journal of Headache and Pain
https://www.readbyqxmd.com/read/29623444/polygenic-risk-score-use-in-migraine-research
#10
Mona Ameri Chalmer, Ann-Louise Esserlind, Jes Olesen, Thomas Folkmann Hansen
BACKGROUND: The latest Genome-Wide Association Study identified 38 genetic variants associated with migraine. In this type of studies the significance level is very difficult to achieve (5 × 10- 8 ) due to multiple testing. Thus, the identified variants only explain a small fraction of the genetic risk. It is expected that hundreds of thousands of variants also confer an increased risk but do not reach significance levels. One way to capture this information is by constructing a Polygenic Risk Score...
April 5, 2018: Journal of Headache and Pain
https://www.readbyqxmd.com/read/29619630/is-migraine-primarily-a-metaboloendocrine-disorder
#11
REVIEW
Innocenzo Rainero, Flora Govone, Annalisa Gai, Alessandro Vacca, Elisa Rubino
PURPOSE OF THE REVIEW: The goals of this review are to evaluate recent studies regarding comorbidity between migraine and different metabolic and endocrine disorders and to discuss the role of insulin resistance as a common pathogenetic mechanism of these diseases. RECENT FINDINGS: Recently, several studies showed that migraine is associated with insulin resistance, a condition in which a normal amount of insulin induces a suboptimal physiological response. All the clinical studies that used the oral glucose tolerance test to examine insulin sensitivity found that, after glucose load, there is in migraine patients a significant increase of both plasmatic insulin and glucose concentrations in comparison with controls...
April 4, 2018: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/29600549/phenotypes-genotypes-and-the-management-of-paroxysmal-movement-disorders
#12
REVIEW
Laura Silveira-Moriyama, Stjepana Kovac, Manju A Kurian, Henry Houlden, Andrew J Lees, Matthew C Walker, Emmanuel Roze, Alex R Paciorkowski, Jonathan W Mink, Thomas T Warner
As a consequence of the genomic revolution, a large number of publications describing paroxysmal movement disorders have been published in the last few years, shedding light on their molecular pathology. Routine gene testing is not necessary to guide treatment for typical forms of paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and episodic ataxia type 1 or 2. It can, however, be helpful in the management of atypical or complex cases, especially for genetic counselling, treatment strategies, and the offer of preimplantation genetic diagnosis...
March 30, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29582723/are-migraine-and-tension-type-headache-genetically-related-an-investigation-of-twin-family-data
#13
Lannie Ligthart, Annemarie Huijgen, Gonneke Willemsen, Eco J C de Geus, Dorret I Boomsma
Migraine and tension-type headache (TTH) are often viewed as distinct entities and defined as such in the International Classification of Headache Disorders, 2nd edition (ICHD-II) criteria, although there is also empirical evidence to suggest they may be etiologically similar. This study aims to investigate whether migraine and TTH are etiologically related conditions. First, we explored whether migraine and TTH were associated with the same environmental and lifestyle risk factors at the population level. Second, we examined comorbidity of migraine and TTH in a twin design...
April 2018: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/29560378/phenotypic-heterogeneity-in-m-3243a-g-mitochondrial-disease-the-role-of-nuclear-factors
#14
Sarah J Pickett, John P Grady, Yi Shiau Ng, Gráinne S Gorman, Andrew M Schaefer, Ian J Wilson, Heather J Cordell, Doug M Turnbull, Robert W Taylor, Robert McFarland
Objective: The pathogenic mitochondrial DNA m.3243A>G mutation is associated with a wide range of clinical features, making disease prognosis extremely difficult to predict. We aimed to understand the cause of this heterogeneity. Methods: We examined the phenotypic profile of 238 adult m.3243A>G carriers (patients and asymptomatic carriers) from the UK MRC Mitochondrial Disease Patient Cohort using the Newcastle Mitochondrial Disease Adult Scale. We modeled the role of risk factors for the development of specific phenotypes using proportional odds logistic regression...
March 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29557064/the-role-of-endothelin-in-the-pathophysiology-of-migraine-a-systematic-review
#15
REVIEW
Afrim Iljazi, Cenk Ayata, Messoud Ashina, Anders Hougaard
PURPOSE OF REVIEW: Vasoactive peptides play a key role in the attack-initiating cascade of migraine. Recent studies have highlighted a potentially important role for endothelin-1, a potent vasoconstrictor peptide, in migraine pathophysiology. Here, we review the current data on endothelin's involvement in migraine. RECENT FINDINGS: We identified 23 articles. Nine studies reported on endothelin-1 plasma concentrations in patients with migraine, eight studies investigated relevant genetic associations, five studies investigated endothelin-1 and spreading depression in animals, and one randomized controlled clinical trial tested the efficacy of an endothelin antagonist in the acute treatment of migraine in patients both with and without aura...
March 19, 2018: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/29550775/nineteen-and-up-study-19up-understanding-pathways-to-mental-health-disorders-in-young-australian-twins
#16
Baptiste Couvy-Duchesne, Victoria O'Callaghan, Richard Parker, Natalie Mills, Katherine M Kirk, Jan Scott, Anna Vinkhuyzen, Daniel F Hermens, Penelope A Lind, Tracey A Davenport, Jane M Burns, Melissa Connell, Brendan P Zietsch, James Scott, Margaret J Wright, Sarah E Medland, John McGrath, Nicholas G Martin, Ian B Hickie, Nathan A Gillespie
PURPOSE: The Nineteen and Up study (19Up) assessed a range of mental health and behavioural problems and associated risk factors in a genetically informative Australian cohort of young adult twins and their non-twin siblings. As such, 19Up enables detailed investigation of genetic and environmental pathways to mental illness and substance misuse within the Brisbane Longitudinal Twin Sample (BLTS). PARTICIPANTS: Twins and their non-twin siblings from Queensland, Australia; mostly from European ancestry...
March 17, 2018: BMJ Open
https://www.readbyqxmd.com/read/29523342/migraine
#17
REVIEW
David W Dodick
Migraine is a chronic paroxysmal neurological disorder characterised by multiphase attacks of head pain and a myriad of neurological symptoms. The underlying genetic and biological underpinnings and neural networks involved are coming sharply into focus. This progress in the fundamental understanding of migraine has led to novel, mechanism-based and disease-specific therapeutics. In this Seminar, the clinical features and neurobiology of migraine are reviewed, evidence to support available treatment options is provided, and emerging drug, device, and biological therapies are discussed...
March 31, 2018: Lancet
https://www.readbyqxmd.com/read/29517920/genetic-bases-of-the-nutritional-approach-to-migraine
#18
Maria Laura De Marchis, Fiorella Guadagni, Erica Silvestris, Domenica Lovero, David Della-Morte, Patrizia Ferroni, Piero Barbanti, Raffaele Palmirotta
Migraine is a common multifactorial and polygenic neurological disabling disorder characterized by a genetic background and associated to environmental, hormonal and food stimulations. A large series of evidence suggest a strong correlation between nutrition and migraine and indicates several commonly foods, food additives and beverages that may be involved in the mechanisms triggering the headache attack in migraine-susceptible persons. There are foods and drinks, or ingredients of the same, that can trigger the migraine crisis as well as some foods play a protective function depending on the specific genetic sensitivity of the subject...
March 8, 2018: Critical Reviews in Food Science and Nutrition
https://www.readbyqxmd.com/read/29508147/glutamate-and-its-receptors-as-therapeutic-targets-for-migraine
#19
REVIEW
Jan Hoffmann, Andrew Charles
There is substantial evidence indicating a role for glutamate in migraine. Levels of glutamate are higher in the brain and possibly also in the peripheral circulation in migraine patients, particularly during attacks. Altered blood levels of kynurenines, endogenous modulators of glutamate receptors, have been reported in migraine patients. Population genetic studies implicate genes that are involved with glutamate signaling in migraine, and gene mutations responsible for familial hemiplegic migraine and other familial migraine syndromes may influence glutamate signaling...
April 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/29508090/pacap-in-hypothalamic-regulation-of-sleep-and-circadian-rhythm-importance-for-headache
#20
REVIEW
Philip R Holland, Mads Barloese, Jan Fahrenkrug
The interaction between sleep and primary headaches has gained considerable interest due to their strong, bidirectional, clinical relationship. Several primary headaches demonstrate either a circadian/circannual rhythmicity in attack onset or are directly associated with sleep itself. Migraine and cluster headache both show distinct attack patterns and while the underlying mechanisms of this circadian variation in attack onset remain to be fully explored, recent evidence points to clear physiological, anatomical and genetic points of convergence...
March 5, 2018: Journal of Headache and Pain
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