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Migraine genetics

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https://www.readbyqxmd.com/read/29146952/migrainomics-identifying-brain-and-genetic-markers-of-migraine
#1
REVIEW
Dale R Nyholt, David Borsook, Lyn R Griffiths
Migraine is one of the world's most prevalent and disabling disorders and imposes an enormous socioeconomic burden. The exact causes of migraine are unknown, and no recognizable diagnostic pathological changes have been identified. Specific identifiable markers of migraine would aid diagnosis and could provide insight into the pathogenesis of the condition, with the potential to direct development of new therapeutics. In the past few years, advances in neuroimaging and genetic studies have provided the most substantial progress towards the identification of markers...
November 17, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29145747/two-novel-families-with-hemiplegic-migraine-caused-by-recurrent-scn1a-mutation-p-f1499l
#2
Victoria Schubert, Eva Auffenberg, Saskia Biskup, Karin Jurkat-Rott, Tobias Freilinger
Background Familial hemiplegic migraine type 3 is a monogenic subtype of migraine caused by missense mutations in the neuronal voltage-gated sodium channel gene SCN1A, with 10 different mutations reported so far. In two familial hemiplegic migraine type 3 families, partial cosegregation with a rare eye phenotype (elicited repetitive daily blindness) was previously reported. Methods Two novel familial hemiplegic migraine pedigrees were subjected to genetic analysis and detailed work-up of associated clinical features...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/29145497/rare-genetic-variants-in-the-endocannabinoid-system-genes-cnr1-and-dagla-are-associated-with-neurological-phenotypes-in-humans
#3
Douglas R Smith, Christine M Stanley, Theodore Foss, Richard G Boles, Kevin McKernan
Rare genetic variants in the core endocannabinoid system genes CNR1, CNR2, DAGLA, MGLL and FAAH were identified in molecular testing data from 6,032 patients with a broad spectrum of neurological disorders. The variants were evaluated for association with phenotypes similar to those observed in the orthologous gene knockouts in mice. Heterozygous rare coding variants in CNR1, which encodes the type 1 cannabinoid receptor (CB1), were found to be significantly associated with pain sensitivity (especially migraine), sleep and memory disorders-alone or in combination with anxiety-compared to a set of controls without such CNR1 variants...
2017: PloS One
https://www.readbyqxmd.com/read/29129678/pathophysiological-mechanisms-of-migraine-and-epilepsy-similarities-and-differences
#4
REVIEW
Massimo Mantegazza, Sandrine Cestèle
Migraine and epilepsy are episodic disorders with distinct features, but they have some clinical and pathophysiological overlaps. We review here clinical overlaps between seizures and migraine attacks, activities of neuronal networks observed during seizures and migraine attacks, and molecular and cellular mechanisms of migraine identified in genetic forms, focusing on genetic variants identified in hemiplegic migraine and their functional effects. Epilepsy and migraine can be generated by dysfunctions of the same neuronal networks, but these dysfunctions can be disease-specific, even if pathogenic mutations target the same protein...
November 9, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29108421/neonatal-arterial-ischemic-stroke-risk-related-to-family-history-maternal-diseases-and-genetic-thrombophilia
#5
Juan Arnaez, Gemma Arca, Ana Martín-Ancel, Thais Agut, Alfredo Garcia-Alix
The objective of this study was to evaluate the heritability of neonatal arterial ischemic stroke (NAIS) in relation to family history of thromboembolic event, maternal diseases, and thrombophilia in both parents ( F5G1691A, F2G20210A, and MTHFRC677 T mutations). Forty-two consecutive infants ≥36 weeks of gestation <28 days of life with acute symptomatic NAIS and their parents, as well as 129 controls, were prospectively recruited. Information on maternal data (age, body mass index, oral contraception, migraine, epilepsy, hypertension, and immune disease) and a 3-generation pedigree regarding myocardial infarction, pulmonary embolism, cerebrovascular event, and deep vein thrombosis were obtained...
January 1, 2017: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29074058/breastfeeding-during-infancy-is-associated-with-a-lower-future-risk-of-pediatric-multiple-sclerosis
#6
J Nicholas Brenton, Casey E Engel, Min-Woong Sohn, Myla D Goldman
BACKGROUND: Risk of multiple sclerosis (MS) is influenced by environment and genetics. Infant breastfeeding appears protective against some childhood autoimmune disorders, but its impact on risk of MS in childhood is unknown. The objective of this study is to analyze the association of breastfeeding in infancy on future risk of pediatric-onset MS. BASIC PROCEDURES: Biological mothers of 36 consecutive pediatric-onset MS patients completed a questionnaire on history of breastfeeding and various birth and demographic factors...
September 14, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29066757/impaired-k-binding-to-glial-glutamate-transporter-eaat1-in-migraine
#7
Peter Kovermann, Margarita Hessel, Daniel Kortzak, Joanna C Jen, Johannes Koch, Christoph Fahlke, Tobias Freilinger
SLC1A3 encodes the glial glutamate transporter hEAAT1, which removes glutamate from the synaptic cleft via stoichiometrically coupled Na(+)-K(+)-H(+)-glutamate transport. In a young man with migraine with aura including hemiplegia, we identified a novel SLC1A3 mutation that predicts the substitution of a conserved threonine by proline at position 387 (T387P) in hEAAT1. To evaluate the functional effects of the novel variant, we expressed the wildtype or mutant hEAAT1 in mammalian cells and performed whole-cell patch clamp, fast substrate application, and biochemical analyses...
October 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29061087/oct1-pharmacogenetics-in-pain-management-is-a-clinical-application-within-reach
#8
Mladen V Tzvetkov
Beside drug metabolizing enzymes alsogenetically variable membrane transporters may substantially contribute to the interindividual variability in pharmacokinetics and efficacy of opioids and other analgesics. The organic cation transporter OCT1 is strongly expressed in the sinusoidal membrane of the human liver. It may affect hepatic uptake and thus limit metabolic rates. OCT1 is highly genetically variable. Genetic polymorphisms lead to substantially reduced OCT1 activity in up to 9% of the Europeans and the white Americans...
October 24, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/29050521/glutamate-receptor-antagonists-with-the-potential-for-migraine-treatment
#9
Anna Ferrari, Cecilia Rustichelli, Carlo Baraldi
Preclinical, clinical, and other (e.g., genetic) evidence support the concept that migraine susceptibility may at least partially result from a glutamatergic system disorder. Therefore, the receptors of the glutamatergic system are considered relatively new targets for investigational drugs to treat migraine. Investigational and established glutamate receptor antagonists (GluRAs) have been shown to possess antinociceptive properties in preclinical models of trigeminovascular nociception and have been evaluated in clinical trials...
October 27, 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/29042000/nociceptive-blink-reflex-habituation-biofeedback-in-migraine
#10
M de Tommaso, M Delussi
Reduced habituation of the nociceptive blink reflex (NBR) is considered a trait marker for genetic predisposition to migraine. In this open-label randomized controlled study, we aimed to test the efficacy of a biofeedback training based on learning of habituation of the NBR (NBR biofeedback) compared with pharmacological (topiramate) treatment and NBR biofeedback plus topiramate treatment in a cohort of migraine without aura patients eligible for prophylaxis. Thirty-three migraine patients were randomly assigned to three months of treatment with: 1) NBR biofeedback, 2) NBR biofeedback plus topiramate 50 mg (b...
July 2017: Functional Neurology
https://www.readbyqxmd.com/read/29031496/ischemic-stroke-in-a-patient-with-parry-romberg-syndrome
#11
Victoria Ebiana, Sandeep Singh, Shaweta Khosa, Negar Moheb, Bhavesh Trikamji, Neal M Rao, Shri K Mishra
OBJECTIVE: This study aimed to discuss a case of a patient with a known diagnosis of Parry-Romberg syndrome (PRS) presenting with ischemic stroke, the second such reported case. BACKGROUND: PRS is a rare genetic disorder with progressive hemifacial atrophy, which usually presents within the first 2 decades of life. Neurologic manifestations include trigeminal neuralgia with associated deafness, hemifacial pain with associated migraine headaches, seizures, movement disorders, and neuropsychiatric symptoms...
October 11, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28992894/chronic-prostatitis-and-comorbid-non-urological-overlapping-pain-conditions-a-co-twin-control-study
#12
Marianna Gasperi, John N Krieger, Christopher Forsberg, Jack Goldberg, Dedra Buchwald, Niloofar Afari
OBJECTIVES: Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) is characterized by pain and voiding symptoms in the absence of an obvious infection or other cause. CP/CPPS frequently occurs with non-urological chronic overlapping pain conditions (COPCs) of unknown etiology. We conducted a co-twin control study in men discordant for chronic prostatitis (CP), an overarching diagnosis of which approximately 90% is CP/CPPS. The primary aim was to investigate the contribution of familial factors, including shared genetic and common environmental factors, to the comorbidity of CP and COPCs...
November 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/28991717/new-diagnostic-criteria-for-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukocencephalopathy-in-japan
#13
Ikuko Mizuta, Akiko Watanabe-Hosomi, Takashi Koizumi, Mao Mukai, Ai Hamano, Yasuhiro Tomii, Masaki Kondo, Masanori Nakagawa, Hidekazu Tomimoto, Teruyuki Hirano, Makoto Uchino, Osamu Onodera, Toshiki Mizuno
PURPOSE: Definite diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy (CADASIL) is mostly done by identification of NOTCH3 mutations. We aimed to develop criteria for selecting patients suspected for CADASIL to undergo genetic testing. SUBJECTS AND METHODS: All subjects were Japanese. We recruited CADASIL patients genetically diagnosed up until 2011 (n=37, Group 1) or after 2011 (n=65, Group 2), 67 young stroke patients (≤55 years old), and 53 NOTCH3-negative CADASIL-like patients...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28990418/redox-mechanisms-in-migraine-novel-therapeutics-and-dietary-interventions
#14
Patrizia Ferroni, Piero Barbanti, David Della-Morte, Raffaele Palmirotta, Emilio Jirillo, Fiorella Guadagni
Significance Migraine represents the third most prevalent and the seventh most disabling human disorder. Approximately 30% of migraine patients experience transient, fully reversible, focal neurological symptoms (aura) preceding the attack. Recent advances Awareness of the hypothesis that migraine actually embodies a spectrum of illnesses - ranging from episodic to chronic forms - is progressively increasing and poses novel challenges for clarifying the underlying pathophysiological mechanisms of migraine as well as for the development of novel therapeutic interventions...
October 7, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28989805/migraine-and-stroke
#15
REVIEW
Yonghua Zhang, Aasheeta Parikh, Shuo Qian
Migraines are generally considered a relatively benign neurological condition. However, research has shown an association between migraines and stroke, and especially between migraine with aura and ischaemic stroke. Patients can also suffer from migrainous infarction, a subset of ischaemic stroke that often occurs in the posterior circulation of younger women. The exact pathogenesis of migrainous infarct is not known, but it is theorised that the duration and local neuronal energy level from cortical spreading depression may be a key factor...
September 2017: Stroke and Vascular Neurology
https://www.readbyqxmd.com/read/28957430/shared-genetic-risk-between-migraine-and-coronary-artery-disease-a-genome-wide-analysis-of-common-variants
#16
Bendik S Winsvold, Francesco Bettella, Aree Witoelar, Verneri Anttila, Padhraig Gormley, Tobias Kurth, Gisela M Terwindt, Tobias M Freilinger, Oleksander Frei, Alexey Shadrin, Yunpeng Wang, Anders M Dale, Arn M J M van den Maagdenberg, Daniel I Chasman, Dale R Nyholt, Aarno Palotie, Ole A Andreassen, John-Anker Zwart
Migraine is a recurrent pain condition traditionally viewed as a neurovascular disorder, but little is known of its vascular basis. In epidemiological studies migraine is associated with an increased risk of cardiovascular disease, including coronary artery disease (CAD), suggesting shared pathogenic mechanisms. This study aimed to determine the genetic overlap between migraine and CAD, and to identify shared genetic risk loci, utilizing a conditional false discovery rate approach and data from two large-scale genome-wide association studies (GWAS) of CAD (C4D, 15,420 cases, 15,062 controls; CARDIoGRAM, 22,233 cases, 64,762 controls) and one of migraine (22,120 cases, 91,284 controls)...
2017: PloS One
https://www.readbyqxmd.com/read/28956079/-migraine-in-children-and-adolescents-brain-and-muscle-another-example-of-why-children-are-not-small-adults
#17
REVIEW
M N Landgraf, H König, I Hannibal, T Langhagen, M V Bonfert, B Klose, B Rahmsdorf, R M Giese, A Straube, R von Kries, L Albers, F Ebinger, B Ertl-Wagner, B Kammer, I Körte, N Sollmann, S Krieg, F Heinen
Migraine as primary headache is a life-long disease which is relevant for the quality of life and is based on complex genetics. It often starts in childhood with symptoms typical for the specific age. These show different nuances compared to the migraine symptoms in adults, for example, regarding (bilateral/unilateral) localization of the acute migraine headache. Only over the course of years-during adolescence and young adulthood-do the more specific symptoms as defined by the International Classification of Headache Disorders (ICHD 3 beta) develop...
September 27, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28952330/genome-wide-association-study-identifies-novel-susceptibility-loci-for-migraine-in-han-chinese-resided-in-taiwan
#18
Shih-Pin Chen, Jong-Ling Fuh, Ming-Yi Chung, Ying-Chao Lin, Yi-Chu Liao, Yen-Feng Wang, Chia-Lin Hsu, Ueng-Cheng Yang, Ming-Wei Lin, Jen-Jie Chiou, Po-Jen Wang, Ping-Kun Chen, Pi-Chuan Fan, Jer-Yuan Wu, Yuan-Tsong Chen, Lung-Sen Kao, Cathy Shen-Jang Fann, Shuu-Jiun Wang
Background Susceptibility genes for migraine, despite it being a highly prevalent and disabling neurological disorder, have not been analyzed in Asians by genome-wide association study (GWAS). Methods We conducted a two-stage case-control GWAS to identify susceptibility genes for migraine without aura in Han Chinese residing in Taiwan. In the discovery stage, we genotyped 1005 clinic-based Taiwanese migraine patients and 1053 population-based sex-matched controls using Axiom Genome-Wide CHB Array. In the replication stage, we genotyped 27 single-nucleotide polymorphisms with p < 10(-4) in 1120 clinic-based migraine patients and 604 sex-matched normal controls by using Sequenom...
January 1, 2017: Cephalalgia: An International Journal of Headache
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
#19
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
#20
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
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