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Migraine genetics

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https://www.readbyqxmd.com/read/28101484/cadasil-initially-presented-with-a-seizure
#1
Jung-Hwan Oh, Bong Su Kang, Jay Chol Choi
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease of the cerebral small blood vessels characterized by recurrent ischemic strokes, migraine, and progressive cognitive impairment. In patients with CADASIL, in whom subcortical white matter structures are typically involved, epileptic seizures have been rarely reported as an initial clinical symptom. We describe a patient genetically confirmed as having CADASIL who initially presented with a seizure...
December 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#2
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28089731/investigation-of-polymorphisms-in-genes-involved-in-estrogen-metabolism-in-menstrual-migraine
#3
Heidi G Sutherland, Morgane Champion, Amelie Plays, Shani Stuart, Larisa M Haupt, Alison Frith, E Anne MacGregor, Lyn R Griffiths
Migraine is a common, disabling headache disorder, which is influenced by multiple genes and environmental triggers. After puberty, the prevalence of migraine in women is three times higher than in men and >50% of females suffering from migraine report a menstrual association, suggesting hormonal fluctuations can influence the risk of migraine attacks. It has been hypothesized that the drop in estrogen during menses is an important trigger for menstrual migraine. Catechol-O-methyltransferase (COMT) and Cytochrome P450 (CYP) enzymes are involved in estrogen synthesis and metabolism...
January 13, 2017: Gene
https://www.readbyqxmd.com/read/28058944/epilepsy-in-hemiplegic-migraine-genetic-mutations-and-clinical-implications
#4
P Prontera, P Sarchielli, S Caproni, C Bedetti, L M Cupini, P Calabresi, C Costa
Objective We performed a systematic review on the comorbidities of familial/sporadic hemiplegic migraine (F/SHM) with seizure/epilepsy in patients with CACNA1A, ATP1A2 or SCN1A mutations, to identify the genotypes associated and investigate for the presence of mutational hot spots. Methods We performed a search in MEDLINE and in the Human Gene Mutation and Leiden Open Variation Databases for mutations in the CACNA1A, ATP1A2 and SCN1A genes. After having examined the clinical characteristics of the patients, we selected those having HM and seizures, febrile seizures or epilepsy...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28058730/multilocus-analysis-reveals-three-candidate-genes-for-chinese-migraine-susceptibility
#5
Xing-Kai An, Jie Fang, Zhen-Zhen Yu, Qing Lin, Cong-Xia Lu, Hong-Li Qu, Qi-Lin Ma
Several genome-wide association studies (GWASs) in Caucasian populations have identified 12 loci that are significantly associated with migraine. More evidence suggests that serotonin receptors are also involved in migraine pathophysiology. In the present study, a case-control study was conducted in a cohort of 581 migraine cases and 533 ethnically matched controls among a Chinese population. Eighteen polymorphisms from serotonin receptors and GWASs were selected, and genotyping was performed using a Sequenom MALDI-TOF mass spectrometry iPLEX platform...
January 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28056747/micrornas-based-predictor-factor-in-patients-with-migraine-ischemic-stroke
#6
Luca Gallelli, Antonio Siniscalchi, Marco Carotenuto, Maria Cristina Caroleo, Erika Cione, Vincenzo Guidetti
Among the clinical spectrum of neurological diseases, migraine is often associated with cerebro-vasculopathy. Impairment of neuroimmune mediators in the central nervous system has been recognized in the pathophysiology of migraine-related stroke. Although genetic correlation was found in patients with migraine-related stroke, the epidemiology of this disease indicate a need in biomarker searching discovery and validation. In this view, small molecule, called microRNAs (miRNAs), able to regulate immune and neuronal processes has been reported in patients with migraine and ischemic stroke and unambiguous miRNAs related to these diseases could be established as new molecular indicator of precocity for clinical and/or pharmacological intervention...
January 4, 2017: MicroRNA
https://www.readbyqxmd.com/read/28042767/advantages-of-structure-based-drug-design-approaches-in-neurological-disorders
#7
Murali Aarthy, Umesh Panwar, Chandrabose Selvaraj, Sanjeev Kumar Singh
The nerve impulse that function during abnormal or due in illness may due to several genetic factors, metabolic, biological conditions or environmental components denominated as Neuro-biological disorders. This illness occurs mostly due to the innumerable biological modifications that alters the mechanistic condition of the brain. As per current update, more than a millions of people around the world are suffering through various kinds of neurological disorders. In case, 50 million people with Epilepsy, 35 million with dementia, mainly included Alzheimer's disease and the rest of other cases with Parkinson's, Migraine and Stroke...
2, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28025330/serum-calcium-and-risk-of-migraine-a-mendelian-randomization-study
#8
Peter Yin, Verneri Anttila, Katherine M Siewert, Aarno Palotie, George Davey Smith, Benjamin F Voight
Migraine affects ∼14% of the world's population, though not all predisposing causal risk factors are known. We used electronic health records, genetic co-heritability analysis, and a two-sample Mendelian Randomization (MR) design to determine if elevated serum calcium levels were associated with risk of migraine headache. Co-morbidity was evaluated using electronic health records obtained from the PennOmics database comprising >1 million patient entries. Genetic co-heritability and causality via MR was assessed using data from the International Headache Consortium (23,285 cases, 95,425 controls) and circulating serum calcium levels (39,400 subjects)...
December 26, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27976606/the-progression-of-coeliac-disease-its-neurological-and-psychiatric-implications
#9
Giovanna Campagna, Mirko Pesce, Raffaella Tatangelo, Alessia Rizzuto, Irene La Fratta, Alfredo Grilli
The aim of the paper is to show the various neurological and psychiatric symptoms in coeliac disease (CD). CD is a T cell-mediated, tissue-specific autoimmune disease which affects genetically susceptible individuals after dietary exposure to proline- and glutamine-rich proteins contained in certain cereal grains. Genetics, environmental factors and different immune systems, together with the presence of auto-antigens, are taken into account when identifying the pathogenesis of CD. CD pathogenesis is related to immune dysregulation, which involves the gastrointestinal system, and the extra-intestinal systems such as the nervous system, whose neurological symptoms are evidenced in CD patients...
December 15, 2016: Nutrition Research Reviews
https://www.readbyqxmd.com/read/27919769/transcriptomic-changes-in-rat-cortex-and-brainstem-after-cortical-spreading-depression-with-or-without-pre-treatment-with-migraine-prophylactic-drugs
#10
Cèlia Sintas, Noèlia Fernàndez-Castillo, Marta Vila-Pueyo, Patricia Pozo-Rosich, Alfons Macaya, Bru Cormand
: Migraine with aura is a subtype of migraine consisting of neurological disturbances that usually precede headache. Cortical spreading depression (CSD) is the likely pathophysiological correlate of the aura phase of migraine, found in common and rare forms of migraine, such as familial hemiplegic migraine (FHM). CSD is a depolarization wave that propagates across the cerebral gray matter transiently suppressing neuronal activity. Prophylactic treatments for migraine, such as topiramate (TPM) or valproate (VPA), reduce the number of CSD events...
December 2, 2016: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/27919014/a-novel-scn1a-mutation-identified-in-a-chinese-family-with-familial-hemiplegic-migraine-a-case-report
#11
Yang Zhang, Ning Chen, Muke Zhou, Jian Guo, Jiang Guo, Li He
BACKGROUND: Familial hemiplegic migraine (FHM) is a rare type of migraine with aura that is characterized by transient hemiparesis. Mutations in three genes (CACNA1A, ATP1A2, and SCN1A) have been found to cause FHM. Among these, nine SCN1A gene mutations were reported to cause familial hemiplegic migraine type 3 (FHM3). However, none of them was reported in China. METHOD: The clinical manifestations of a Chinese FHM family were recorded and all coding exons and flanking intronic regions of the CACNA1A, ATP1A2, and SCN1A genes were tested for mutations...
November 8, 2016: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/27910899/glial-pannexin1-contributes-to-tactile-hypersensitivity-in-a-mouse-model-of-orofacial-pain
#12
Regina Hanstein, Menachem Hanani, Eliana Scemes, David C Spray
Drug studies in animal models have implicated pannexin1 (Panx1) in various types of pain, including trigeminal hypersensitivity, neuropathic pain and migraine. However, the tested drugs have limited specificity and efficacy so that direct evidence for Panx1 contribution to pain has been lacking. We here show that tactile hypersensitivity is markedly attenuated by deletion of Panx1 in a mouse model of chronic orofacial pain; in this model, trigeminal ganglion Panx1 expression and function are markedly enhanced...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27895449/cadasil-presenting-with-spontaneous-intracerebral-hemorrhage-report-of-a-case-and-description-of-the-first-family-in-northern-greece
#13
I Koutroulou, T Karapanayiotides, N Grigoriadis, D Karacostas
INTRODUCTION: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), the most common inherited cause of stroke and dementia in adults, has been described in six Greek families. Common presenting manifestations include migraine with aura, brain ischemia, mood disorders and cognitive decline. Spontaneous intracerebral hemorrhage (SICH) rarely occurs in CADASIL and only exceptionally as the first clinical manifestation. CASE DESCRIPTION: We have previously reported the sixth Greek family with CADASIL and in particular, two brothers in whom the genetic testing documented a classic mutation of the NOTCH3 gene (Arg169Cys)...
January 2016: Hippokratia
https://www.readbyqxmd.com/read/27881154/targeted-next-generation-sequencing-identifies-novel-notch3-gene-mutations-in-cadasil-diagnostics-patients
#14
Neven Maksemous, Robert A Smith, Larisa M Haupt, Lyn R Griffiths
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic, hereditary, small vessel disease of the brain causing stroke and vascular dementia in adults. CADASIL has previously been shown to be caused by varying mutations in the NOTCH3 gene. The disorder is often misdiagnosed due to its significant clinical heterogeneic manifestation with familial hemiplegic migraine and several ataxia disorders as well as the location of the currently identified causative mutations...
November 24, 2016: Human Genomics
https://www.readbyqxmd.com/read/27837419/genetics-of-ion-homeostasis-in-m%C3%A3-ni%C3%A3-re-s-disease
#15
Roberto Teggi, Laura Zagato, Simona Delli Carpini, Lorena Citterio, Claudia Cassandro, Roberto Albera, Wen-Yi Yang, Jan A Staessen, Mario Bussi, Paolo Manunta, Chiara Lanzani
Aim of this work was to assess the role of polymorphisms belonging to genes involved in the regulation of ionic homeostasis in Caucasian patients with Ménière Disease (MD). We recruited 155 patients with definite Ménière Disease and 186 controls (Control Group 1) without a lifetime history of vertigo, overlapping with patients for age and rate of hypertension. We validated the positive results on 413 Caucasian subjects selected from a European general population (Control Group 2). The clinical history for migraine and hypertension was collected; genomic DNA was characterized for a panel of 33 SNPs encoding proteins involved in ionic transport...
November 11, 2016: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/27836433/sex-differences-in-the-epidemiology-clinical-features-and-pathophysiology-of-migraine
#16
REVIEW
Kjersti Grøtta Vetvik, E Anne MacGregor
Migraine is two to three times more prevalent in women than men, and women report a longer attack duration, increased risk of headache recurrence, greater disability, and a longer period of time required to recover. Conditions recognised to be comorbid with migraine include asthma, anxiety, depression, and other chronic pain conditions, and these comorbidities add to the amount of disability in both sexes. Migraine-specifically migraine with aura-has been identified as a risk factor for vascular disorders, particularly in women, but because of the scarcity of data, the comparative risk in men has yet to be established...
January 2017: Lancet Neurology
https://www.readbyqxmd.com/read/27822199/clinical-subgroups-in-bilateral-meniere-disease
#17
Lidia Frejo, Andres Soto-Varela, Sofía Santos-Perez, Ismael Aran, Angel Batuecas-Caletrio, Vanesa Perez-Guillen, Herminio Perez-Garrigues, Jesus Fraile, Eduardo Martin-Sanz, Maria C Tapia, Gabriel Trinidad, Ana María García-Arumi, Rocío González-Aguado, Juan M Espinosa-Sanchez, Pedro Marques, Paz Perez, Jesus Benitez, Jose A Lopez-Escamez
Meniere disease (MD) is a heterogeneous clinical condition characterized by sensorineural hearing loss, episodic vestibular symptoms, and tinnitus associated with several comorbidities, such as migraine or autoimmune disorders (AD). The frequency of bilateral involvement may range from 5 to 50%, and it depends on the duration of the disease. We have performed a two-step cluster analysis in 398 patients with bilateral MD (BMD) to identify the best predictors to define clinical subgroups with a potential different etiology to improve the phenotyping of BMD and to develop new treatments...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27821640/familial-history-of-migraine-influences-habituation-of-visual-evoked-potentials
#18
Marco Lisicki, Emiliano Ruiz-Romagnoli, Kevin D'Ostilio, Raúl Piedrabuena, Roberto Giobellina, Jean Schoenen, Delphine Magis
BACKGROUND: Lack of habituation of visual evoked potentials (VEP) is a common finding in migraine patients between attacks. Previous studies have suggested an electrophysiological familial aggregation pattern associated with migraine. The aim of this study was to evaluate the influence of a positive familial history of migraine on VEP amplitude and habituation. METHODS: We recorded six blocks of 100 VEP during continuous pattern-reversal stimulation in 30 patients with migraine between attacks (MO) and in 30 healthy volunteers, of whom 15 had a first-degree relative suffering from migraine (HVm) and 15 had not (HV)...
November 7, 2016: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/27818813/familial-hemiplegic-migraine-with-severe-attacks-a-new-report-with-atp1a2-mutation
#19
E Martínez, R Moreno, L López-Mesonero, I Vidriales, M Ruiz, A L Guerrero, J J Tellería
Introduction. Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attacks with motor weakness during the aura phase. Mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been described. Methods. To describe a mutation in ATP1A2 gene in a FHM case with especially severe and prolonged symptomatology. Results. 22-year-old woman was admitted due to migraine-type headache and sudden onset of right-sided weakness and aphasia; she had similar episodes in her childhood. Her mother was diagnosed with hemiplegic migraine without genetic confirmation...
2016: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/27813193/the-importance-of-and-potential-for-continuous-monitoring-of-intraocular-pressure
#20
REVIEW
Charles W McMonnies
Monitoring intraocular pressure (IOP) is a critically important part of glaucoma management; however, clinical tonometry predominantly involves sitting postures and is unable to detect variations in response to posture changes, muscular effort, deep respirations and during a wide range of activities, such as playing high wind-resistance instruments and wearing swimming goggles in addition to eye touching and rubbing. For example, the usefulness of 24-hour tonometric phasing may be increased, if nocturnal assessments included side and prone sleeping postures rather than being limited to supine posture tonometry...
November 3, 2016: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
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