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Migraine genetics

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https://www.readbyqxmd.com/read/28447608/common-variants-in-zmiz1-and-near-ngf-confer-risk-for-primary-dysmenorrhoea
#1
Zhiqiang Li, Jianhua Chen, Ying Zhao, Yujiong Wang, Jinrui Xu, Jue Ji, Jingyi Shen, Weiping Zhang, Zuosong Chen, Qilin Sun, Lijuan Mao, Shulin Cheng, Bo Yang, Dongtao Zhang, Yufeng Xu, Yingying Zhao, Danping Liu, Yinhuan Shen, Weijie Zhang, Changgui Li, Jiawei Shen, Yongyong Shi
Primary dysmenorrhoea, defined as painful menstrual cramps in the absence of pelvic pathology, is a common problem in women of reproductive age. Its aetiology and pathophysiology remain largely unknown. Here we performed a two-stage genome-wide association study and subsequent replication study to identify genetic factors associated with primary dysmenorrhoea in a total of 6,770 Chinese individuals. Our analysis provided evidence of a significant (P<5 × 10(-8)) association at rs76518691 in the gene ZMIZ1 and at rs7523831 near NGF...
April 27, 2017: Nature Communications
https://www.readbyqxmd.com/read/28445178/familial-hemiplegic-migraine-with-asymmetric-encephalopathy-secondary-to-atp1a2-mutation-a-case-series
#2
Olwen C Murphy, Aine Merwick, Olivia OʼMahony, Aisling M Ryan, Brian McNamara
INTRODUCTION: Familial hemiplegic migraine (FHM) is a genetic disease with a variable clinical phenotype. The imaging and electroencephalogram (EEG) correlates of FHM are not well described. CASE SERIES: We describe a case series of five young women aged 12 to 32 years. Each case presented with headache, encephalopathy, and hemiparesis of varying severity. One patient developed seizures. All patients improved spontaneously. INVESTIGATIONS: Asymmetric slow-wave activity was seen on electroencephalogram in each case...
April 25, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28436534/a-novel-trpa1-variant-is-associated-with-carbamazepine-responsive-cramp-fasciculation-syndrome
#3
M J Nirenberg, R Chaouni, T M Biller, R M Gilbert, C Paisán-Ruiz
Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28430869/inhibition-of-the-p2x7-panx1-complex-suppresses-spreading-depolarization-and-neuroinflammation
#4
Shih-Pin Chen, Tao Qin, Jessica L Seidel, Yi Zheng, Matthias Eikermann, Michel D Ferrari, Arn M J M van den Maagdenberg, Michael A Moskowitz, Cenk Ayata, Katharina Eikermann-Haerter
Spreading depolarization is a wave of neuronal and glial depolarization. Within minutes after spreading depolarization, the neuronal hemichannel pannexin 1 (PANX1) opens and forms a pore complex with the ligand-gated cation channel P2X7, allowing the release of excitatory neurotransmitters to sustain spreading depolarization and activate neuroinflammation. Here, we explore the hypothesis that the P2X7-PANX1 pore complex is a critical determinant of spreading depolarization susceptibility with important consequences for neuroinflammation and trigeminovascular activation...
April 20, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28409830/magnesium-for-treating-sickle-cell-disease
#5
REVIEW
Nan Nitra Than, Htoo Htoo Kyaw Soe, Senthil K Palaniappan, Adinegara Bl Abas, Lucia De Franceschi
BACKGROUND: Sickle cell disease is an autosomal recessive inherited haemoglobinopathy which causes painful vaso-occlusive crises due to sickle red blood cell dehydration. Vaso-occlusive crises are common painful events responsible for a variety of clinical complications; overall mortality is increased and life expectancy decreased compared to the general population. Experimental studies suggest that intravenous magnesium has proven to be well-tolerated in individuals hospitalised for the immediate relief of acute (sudden onset) painful crisis and has the potential to decrease the length of hospital stay...
April 14, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28389699/ion-channelopathies-and-migraine-pathogenesis
#6
REVIEW
Cassie L Albury, Shani Stuart, Larisa M Haupt, Lyn R Griffiths
Migraine is a common neurological disorder that affects approximately 12-20% of the general adult population. Migraine pathogenesis is complex and not wholly understood. Molecular genetic investigations, imaging and biochemical studies, have unveiled a number of interconnected neurological pathways which seem to have a cause and effect component integral to its cause. Much weight of migraine attack initiation can be placed on the initial trigger and the pathways involved in its neuronal counter reaction. Ion channels play a large role in the generation, portrayal and mitigation of the brains response to external triggers...
April 7, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28384598/top-100-cited-articles-on-headache-disorders-a-bibliometric-analysis
#7
Kang Min Park, Bong Soo Park, Sihyung Park, Dae Young Yoon, Jong Seok Bae
OBJECTIVE: The purpose of this study was to identify and characterize the most-cited articles on headache disorders published in journals that have made key contributions in the field. PATIENTS AND METHODS: We performed a search of journals and selected the top-100 cited articles by utilizing the Institute for Scientific Information database available under the banner of the Web of Science, which provides the most relevant bibliometric information on scientific articles published since 1950...
March 23, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28373807/autosomal-dominant-cortical-tremor-myoclonus-and-epilepsy-syndrome-mimicking-juvenile-myoclonic-epilepsy
#8
Zeynep Aydin Özemir, Emel Oğuz Akarsu, Zeliha Matur, Ali Emre Öge, Betül Baykan
INTRODUCTION: Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) syndrome is a genetically heterogeneous and under-recognized disease characterized by tremulous movements mimicking essential tremor, myoclonus, and rare generalized tonic-clonic seizures. Here we described the clinical and electrophysiological features of three siblings with ADCME syndrome mimicking juvenile myoclonic epilepsy (JME). METHODS: Three siblings (two females and one male) diagnosed with ADCME were analyzed by electroencephalogram (EEG), somatosensory evoked potentials, and accelerometric recordings...
September 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28361102/gene-centric-analysis-implicates-nuclear-encoded-mitochondrial-protein-gene-variants-in-migraine-susceptibility
#9
Shani Stuart, Miles C Benton, David A Eccles, Heidi G Sutherland, Larisa M Haupt, Rodney A Lea, Lyn R Griffiths
BACKGROUND: Migraine is a common neurological disorder which affects a large proportion of the population. The Norfolk Island population is a genetically isolated population and is an ideal discovery cohort for genetic variants involved in complex disease susceptibility given the reduced genetic and environmental heterogeneity. Given that the majority of proteins responsible for mitochondrial function are nuclear encoded, this study aimed to investigate the role of Nuclear Encoded Mitochondrial Protein (NEMP) genes in relation to migraine susceptibility...
March 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28283957/migraine-and-stroke-what-s-the-link-what-to-do
#10
REVIEW
Anna Gryglas, Robert Smigiel
Migraine and stroke are common, disabling neurologic disorders, with a high socioeconomic burden. A link between them has been proposed years ago, and various theories have been proposed to explain this bidirectional relation. However, the precise causes remain unclear. We briefly summarize existing hypotheses of this correlation seeking for recommendations for stroke prevention in migraineurs, if any exist. Among the strongest suggested theories of migraine-stroke association are cortical spreading depression, endovascular dysfunction, vasoconstriction, neurogenic inflammation, hypercoagulability, increased prevalence of vascular risk factors, shared genetic defects, cervical artery dissection, and patent foramen ovale...
March 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28281108/recognizing-cadasil-a-secondary-cause-of-migraine-with-aura
#11
REVIEW
John Glenn Burkett, Carrie Dougherty
PURPOSE OF REVIEW: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an important disease to consider in the differential diagnosis of migraine with aura. This review examines current literature regarding migraine in CADASIL, as well as diagnostic and treatment modalities. RECENT FINDINGS: Recent studies have shown that smoking is a modifiable risk factor for progression of CADASIL (Chabriat et al. in Stroke 47:4-11, 2015)...
April 2017: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/28271496/genetics-of-migraine-insights-into-the-molecular-basis-of-migraine-disorders
#12
REVIEW
Heidi G Sutherland, Lyn R Griffiths
Migraine is a complex, debilitating neurovascular disorder, typically characterized by recurring, incapacitating attacks of severe headache often accompanied by nausea and neurological disturbances. It has a strong genetic basis demonstrated by rare migraine disorders caused by mutations in single genes (monogenic), as well as familial clustering of common migraine which is associated with polymorphisms in many genes (polygenic). Hemiplegic migraine is a dominantly inherited, severe form of migraine with associated motor weakness...
April 2017: Headache
https://www.readbyqxmd.com/read/28268429/identifying-glaucoma-patients-by-applying-multivariate-analyses-of-cardiovascular-signals
#13
Andreas Voss, Claudia Fischer, Cristina Gonzalez Martinez, Eva Koch, Niklas Plange, Kathleen Kunert
Glaucoma is a disease that damages the eye's optic nerve. However, the exact cause of this optic nerve damage is not yet fully understood. Besides the factors of age, genetics and others, such as obesity, medication and migraines, a vascular dysfunction is believed to be a significant factor leading to glaucoma. This study's objective was to investigate whether these vascular dysfunctions could be recognized by analyzing cardiovascular regulation in glaucoma patients. Linear and nonlinear methods were applied to the extracted heart rate (HR), and systolic/ diastolic blood pressure (DBP) time series to discriminate between 35 healthy controls and 20 glaucoma patients...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28260603/the-role-of-genetics-on-migraine-induction-triggered-by-cgrp-and-pacap38
#14
REVIEW
Song Guo
Migraine has a strong genetic component and is characterized by multiphasic events including an initial premonitory phase with premonitory symptoms (PS). Calcitonin gene-related peptide (CGRP) and pituitary adenylate cyclase-activating peptide-38 (PACAP38) are endogenous neuropeptides that can trigger migraine attacks and have in recent years gained considerable interest in the migraine field. Yet, the exact pathophysiological mechanisms underlying CGRP- and PACAP38-induced attacks are not fully clarified. Human provocation models have shown that these peptides induce attacks in only two- thirds of migraine patients...
March 2017: Danish Medical Journal
https://www.readbyqxmd.com/read/28255817/family-studies-to-find-rare-high-risk-variants-in-migraine
#15
Rikke Dyhr Hansen, Anne Francke Christensen, Jes Olesen
INTRODUCTION: Migraine has long been known as a common complex disease caused by genetic and environmental factors. The pathophysiology and the specific genetic susceptibility are poorly understood. Common variants only explain a small part of the heritability of migraine. It is thought that rare genetic variants with bigger effect size may be involved in the disease. Since migraine has a tendency to cluster in families, a family approach might be the way to find these variants. This is also indicated by identification of migraine-associated loci in classical linkage-analyses in migraine families...
December 2017: Journal of Headache and Pain
https://www.readbyqxmd.com/read/28254515/hereditary-cerebral-small-vessel-disease-and-stroke
#16
REVIEW
Christian Baastrup Søndergaard, Jørgen Erik Nielsen, Christine Krarup Hansen, Hanne Christensen
Cerebral small vessel disease is considered hereditary in about 5% of patients and is characterized by lacunar infarcts and white matter hyperintensities on MRI. Several monogenic hereditary diseases causing cerebral small vessel disease and stroke have been identified. The purpose of this systematic review is to provide a guide for determining when to consider molecular genetic testing in patients presenting with small vessel disease and stroke. CADASIL, CARASIL, collagen type IV mutations (including PADMAL), retinal vasculopathy with cerebral leukodystrophy, Fabry disease, hereditary cerebral hemorrhage with amyloidosis, and forkhead box C1 mutations are described in terms of genetics, pathology, clinical manifestation, imaging, and diagnosis...
April 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28248699/co-occurrence-of-migraine-and-atopy-in-children-and-adolescents-myth-or-a-casual-relationship
#17
Aynur Özge, Derya Uluduz, Hayrunnisa Bolay
PURPOSE OF REVIEW: To clarify the causal relationship between migraine and atopic disorders in children and adolescents. RECENT FINDINGS: Migraine headache and atopic disorders including asthma are both common functional syndromes of childhood in which nature of the relationship is still debated. Attacks may induce in both disorders upon exposure to potential triggers in genetically susceptible individuals. Clinical phenotype manifests by temporary dysfunction of target tissue mediated by inflammation triggered by specific agents...
June 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28226599/identifying-glaucoma-patients-by-applying-multivariate-analyses-of-cardiovascular-signals
#18
Andreas Voss, Claudia Fischer, Cristina Gonzalez Martinez, Eva Koch, Niklas Plange, Kathleen Kunert, Andreas Voss, Claudia Fischer, Cristina Gonzalez Martinez, Eva Koch, Niklas Plange, Kathleen Kunert, Claudia Fischer, Kathleen Kunert, Niklas Plange, Cristina Gonzalez Martinez, Eva Koch, Andreas Voss
Glaucoma is a disease that damages the eye's optic nerve. However, the exact cause of this optic nerve damage is not yet fully understood. Besides the factors of age, genetics and others, such as obesity, medication and migraines, a vascular dysfunction is believed to be a significant factor leading to glaucoma. This study's objective was to investigate whether these vascular dysfunctions could be recognized by analyzing cardiovascular regulation in glaucoma patients. Linear and nonlinear methods were applied to the extracted heart rate (HR), and systolic/ diastolic blood pressure (DBP) time series to discriminate between 35 healthy controls and 20 glaucoma patients...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28194570/genetic-and-biochemical-changes-of-the-serotonergic-system-in-migraine-pathobiology
#19
REVIEW
Claudia Francesca Gasparini, Robert Anthony Smith, Lyn Robyn Griffiths
Migraine is a brain disorder characterized by a piercing headache which affects one side of the head, located mainly at the temples and in the area around the eye. Migraine imparts substantial suffering to the family in addition to the sufferer, particularly as it affects three times more women than men and is most prevalent between the ages of 25 and 45, the years of child rearing. Migraine typically occurs in individuals with a genetic predisposition and is aggravated by specific environmental triggers. Attempts to study the biochemistry of migraine began as early as the 1960s and were primarily directed at serotonin metabolism after an increase of 5-hydroxyindoleacetic acid (5-HIAA), the main metabolite of serotonin was observed in urine of migraineurs...
December 2017: Journal of Headache and Pain
https://www.readbyqxmd.com/read/28181217/hypercoagulability-and-migraine
#20
Gretchen E Tietjen, Stuart A Collins
BACKGROUND: A growing body of literature suggests that migraineurs, particularly those with aura, have an increased risk for ischemic stroke, but not via enhanced atherosclerosis. The theory that micro-emboli induced ischemia provokes cortical spreading depression (ie, symptomatic aura) in migraineurs but transient ischemic attacks in others highlights a potential role for hypercoagulability as a link between migraine (with aura) and stroke. AIM: Our objective is to summarize the literature evaluating the association of migraine with various acquired or inheritable thrombophilic states, including those related to elevated estrogen levels, endothelial activation and dysfunction, antiphospholipid antibodies (aPL), deficiency of coagulation inhibitors, and presence of certain genetic polymorphisms...
February 9, 2017: Headache
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