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Migraine genetics

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https://www.readbyqxmd.com/read/28534048/the-first-report-of-cadasil-in-peru-olfactory-dysfunction-on-initial-presentation
#1
Anastasia Vishnevetsky, Miguel Inca-Martinez, Karina Milla-Neyra, Danny Moises Barrientos-Iman, Ivan Cornejo-Herrera, Carlos Cosentino, Mario Cornejo-Olivas
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, heritable, small vessel vascular disease caused by mutations in the Notch3 gene that is characterized by migraines, subcortical vascular events, cognitive decline, and mood disturbances. However, many CADASIL cases present with unusual symptoms such as status epilepticus, a movement disorder, or sensory dysfunction. This study describes the clinical, genetic, and radiologic characteristics of a Peruvian family with CADASIL in which multiple family members presented with severe olfactory deficits...
December 2016: ENeurologicalSci
https://www.readbyqxmd.com/read/28527083/shared-mechanisms-of-epilepsy-migraine-and-affective-disorders
#2
Davide Zarcone, Simona Corbetta
Since the nineteenth century several clinical features have been observed in common between migraine and epilepsy (such as episodic attacks, triggering factors, presence of aura, frequent familiarity), but only in recent years researchers have really engaged in finding a common pathogenic mechanism. From studies of disease incidence, we understand how either migraine among patients with epilepsy or epilepsy among migraine patients are more frequent than in the general population. This association may result from a direct causality, by the same environmental risk factors and/or by a common genetic susceptibility...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28520665/family-history-of-migraine-associated-with-posttraumatic-migraine-symptoms-following-sport-related-concussion
#3
Alicia Sufrinko, Jamie McAllister-Deitrick, R J Elbin, Michael W Collins, Anthony P Kontos
OBJECTIVE: To determine whether family history of migraine increased the likelihood of posttraumatic migraine (PTM) symptom presentation in adolescents following concussion, and examine the influence of family history of migraine and PTM on postinjury outcomes. SETTING: Outpatient concussion clinic. PARTICIPANTS: A total of 153 patients with concussion (103 males and 50 females) aged 15.72 ± 1.48 years (range 12-18 years). DESIGN: Cross-sectional, observational study of patients presenting for initial evaluation 4...
May 17, 2017: Journal of Head Trauma Rehabilitation
https://www.readbyqxmd.com/read/28507530/brain-derived-neurotrophic-factor-val66met-gene-polymorphism-impacts-on-migraine-susceptibility-a-meta-analysis-of-case-control-studies
#4
REVIEW
Salvatore Terrazzino, Sarah Cargnin, Michele Viana, Grazia Sances, Cristina Tassorelli
Inconclusive results have been reported in studies investigating the association between the brain-derived neurotrophic factor (BDNF) rs6265 polymorphism and migraine. In the present study, we conducted a systematic review and meta-analysis on the published data in order to quantitatively estimate the relationship between rs6265 and migraine susceptibility. A comprehensive search was performed through PubMed, Web of Knowledge, and Cochrane databases up to October 2016. The pooled odds ratio (OR) with the corresponding 95% confidence interval (CI) was calculated to estimate the strength of the association with rs6265 under an additive, dominant, or recessive model of inheritance...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28503387/rubinstein-taybi-syndrome-associated-with-pituitary-macroadenoma-a-case-report
#5
Yasamin Olyaei, J Manuel Sarmiento, Serguei I Bannykh, Doniel Drazin, Robert T Naruse, Wesley King
Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma associated with RSTS. A 39-year-old Caucasian female with a past medical history of RSTS diagnosed at age two was found to have a gadolinium-enhancing pituitary mass on magnetic resonance imaging (MRI) of the brain three years ago during workup for migraine-like headaches...
April 11, 2017: Curēus
https://www.readbyqxmd.com/read/28484680/superior-semicircular-canal-dehiscence-in-a-patient-with-ehlers-danlos-syndrome-a-case-report
#6
Lawrance K Chung, Carlito Lagman, Daniel T Nagasawa, Quinton Gopen, Isaac Yang
Superior semicircular canal dehiscence (SSCD) is a bony defect in the middle cranial fossa floor that results in an abnormal connection between the inner ear and cranial vault. Although the etiology of SSCD remains unclear, an inappropriately thin or fragile temporal bone likely predisposes an individual towards developing SSCD. Ehlers-Danlos syndrome (EDS) constitutes a group of genetic connective tissue disorders caused by a defect in the production, processing, or structure of collagen, or its associated proteins...
April 6, 2017: Curēus
https://www.readbyqxmd.com/read/28480554/vomiting-and-migraine-related-clinical-parameters-in-pediatric-migraine
#7
Tal Eidlitz-Markus, Yishai Haimi-Cohen, Avraham Zeharia
OBJECTIVE/BACKGROUND: To investigate the characteristics of vomiting in pediatric migraineurs and the relationship of vomiting with other migraine-related parameters. METHODS: The cohort included children and adolescents with migraine attending a headache clinic of a tertiary pediatric medical center from 2010 to 2016. Patients were identified by a retrospective database search. Data were collected from medical files. The presence of vomiting was associated with background and headache-related parameters...
May 7, 2017: Headache
https://www.readbyqxmd.com/read/28479855/the-genetic-relationship-between-epilepsy-and-hemiplegic-migraine
#8
REVIEW
Yiqing Huang, Hai Xiao, Xingyue Qin, Yuan Nong, Donghua Zou, Yuan Wu
Epilepsy and migraine are common diseases of the nervous system and share genetic and pathophysiological mechanisms. Familial hemiplegic migraine is an autosomal dominant disease. It is often used as a model of migraine. Four genes often contain one or more mutations in both epilepsy and hemiplegic migraine patients (ie, CACNA1A, ATP1A2, SCN1A, and PRRT2). A better understanding of the shared genetics of epilepsy and hemiplegic migraine may reveal new strategic directions for research and treatment of both the disorders...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28467957/why-are-migraineurs-more-depressed-a-review-of-the-factors-contributing-to-the-comorbidity-of-migraine-and-depression
#9
Daniel Baksa, Xenia Gonda, Gabriella Juhasz
The comorbidity of migraine and depression is well-known. Patients with both conditions show stronger headache-related symptoms, a more severe clinical course and higher risk for migraine chronification. Therefore, it's important to identify factors underlying comorbid migraine and depression. The growing body of literature suggests complex, biopsychosocial mechanisms in the background, including shared genetic risk factors and abnormal brain mechanisms, and also different environmental (stress) and psychological variables (for example: rumination, neuroticism)...
March 2017: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/28447608/common-variants-in-zmiz1-and-near-ngf-confer-risk-for-primary-dysmenorrhoea
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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