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Migraine genetics

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https://www.readbyqxmd.com/read/29327224/prevalence-and-clinical-characteristics-of-headache-in-juvenile-myoclonic-epilepsy-experience-from-a-tertiary-epilepsy-center
#1
Metin Dedei Daryan, Betül Tekin Güveli, Sezin Alpaydın Baslo, Kasım Mulhan, Hüseyin Sarı, Zeynep Ezgi Balçık, Dilek Ataklı
The comorbidity of headache and epilepsy is often seen in neurological practice. The objective of this study was to assess the prevalence, types of, and risk factors for headache in juvenile myoclonic epilepsy (JME). We assessed a total of 200 patients and 100 healthy controls in our study. Headache was classified in participants using a self-administered questionnaire. Demographical, clinical features and headache characteristics were recorded. Seizure and headache temporal profiles were noted. Headache was present in 111 (56%) patients and 50 (50%) healthy participants...
January 11, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29322261/the-journey-from-genetic-predisposition-to-medication-overuse-headache-to-its-acquisition-as-sequela-of-chronic-migraine
#2
EDITORIAL
Paolo Martelletti
Migraine remains one of the biggest clinical case to be solved among the non-communicable diseases, second to low back pain for disability caused as reported by the Global Burden of Disease Study 2016. Despite this, its genetics roots are still unknown. Its evolution in chronic forms hits 2-4% of the population and causes a form so far defined Medication Overuse Headache (MOH), whose pathophysiological basis have not been explained by many dedicated studies. The Global Burden of Disease Study 2016 has not recognized MOH as independent entity, but as a sequela of Chronic Migraine...
January 10, 2018: Journal of Headache and Pain
https://www.readbyqxmd.com/read/29299381/the-m-7510t-c-mutation-hearing-impairment-and-a-complex-neurologic-phenotype
#3
Laura Kytövuori, Maria Gardberg, Kari Majamaa, Mika H Martikainen
Objectives: Mutations in mitochondrial DNA cause a variety of clinical phenotypes ranging from a mild hearing impairment (HI) to severe encephalomyopathy. The MT-TS1 gene is a hotspot for mutations causing HI. The m.7510T>C mutation in MT-TS1 has been previously associated with non-syndromic HI in four families from different ethnic backgrounds. Materials and Methods: We describe the clinical, genetic, and histopathological findings in a Finnish family with the heteroplasmic m...
December 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29285568/characterization-of-migraineurs-presenting-interictal-widespread-pressure-hyperalgesia-identified-using-a-tender-point-count-a-cross-sectional-study
#4
Toshihide Toriyama, Tetsuyoshi Horiuchi, Kazuhiro Hongo
BACKGROUND: Migraineurs exhibit pain hypersensitivity throughout the body during and between migraine headaches. Migraine is classified as a central sensitivity syndrome, typified by fibromyalgia showing widespread pressure hyperalgesia determined by a tender point. This study was performed to examine whether: 1) there is a subgroup of episodic migraineurs with widespread pressure hyperalgesia during and between attacks; 2) if such a subgroup exists, what is the prevalence and what is the difference between groups with interictal widespread hyperalgesia and acute allodynia regarding the demographic and clinical characteristics of migraine...
December 28, 2017: Journal of Headache and Pain
https://www.readbyqxmd.com/read/29279257/epigenetic-changes-in-headache
#5
M S Cámara, M Martín Bujanda, M Mendioroz Iriarte
INTRODUCTION: Multiple factors, including both genetic and environmental mechanisms, appear to play a role in the aetiology of headache. An interesting area of study is the possible involvement of epigenetic mechanisms in headache development and the transformation to chronic headache, and the potential role of these factors as a therapeutic target. METHODS: We performed a literature review of the involvement of different epigenetic mechanisms in headache, mainly using the Medline/PubMed database...
December 23, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/29277263/genetics-of-human-epilepsies-continuing-progress
#6
Pierre Szepetowski
Numerous epilepsy genes have been identified in the last years, mostly in the (rare) monogenic forms and thanks to the increased availability and the decreased cost of next-generation sequencing approaches. Besides the somehow expected group of epilepsy genes encoding various ion channel subunits (e.g. sodium or potassium channel subunits, or GABA receptors, or glutamate-gated NMDA receptors), more diversity has emerged recently, with novel epilepsy genes encoding proteins playing a wide range of physiological roles at the cellular and molecular levels, such as synaptic proteins, members of the mTOR pathway, or proteins involved in chromatin remodeling...
December 22, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29273026/genetic-diversity-and-structure-related-to-expansion-history-and-habitat-isolation-stone-marten-populating-rural-urban-habitats
#7
Anna Wereszczuk, Raphaël Leblois, Andrzej Zalewski
BACKGROUND: Population genetic diversity and structure are determined by past and current evolutionary processes, among which spatially limited dispersal, genetic drift, and shifts in species distribution boundaries have major effects. In most wildlife species, environmental modifications by humans often lead to contraction of species' ranges and/or limit their dispersal by acting as environmental barriers. However, in species well adapted to anthropogenic habitat or open landscapes, human induced environmental changes may facilitate dispersal and range expansions...
December 22, 2017: BMC Ecology
https://www.readbyqxmd.com/read/29251523/perivascular-neurotransmitters-regulation-of-cerebral-blood-flow-and-role-in-primary-headaches
#8
Simona D Frederiksen, Kristian A Haanes, Karin Warfvinge, Lars Edvinsson
In order to understand the nature of the relationship between cerebral blood flow (CBF) and primary headaches, we have conducted a literature review with particular emphasis on the role of perivascular neurotransmitters. Primary headaches are in general considered complex polygenic disorders (genetic and environmental influence) with pathophysiological neurovascular alterations. Identified candidate headache genes are associated with neuro- and gliogenesis, vascular development and diseases, and regulation of vascular tone...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/29244233/inadequate-brain-glycogen-or-sleep-increases-spreading-depression-susceptibility
#9
Kivilcim Kilic, Hulya Karatas, Buket Donmez-Demir, Emine Eren-Kocak, Yasemin Gursoy-Ozdemir, Alp Can, Jean-Marie Petit, Pierre J Magistretti, Turgay Dalkara
OBJECTIVE: Glycogen in astrocyte endfeet contributes to maintenance of low extracellular glutamate and K+ concentrations around synapses. Sleep deprivation (SD), a common migraine trigger induces transcriptional changes in astrocytes reducing glycogen breakdown. We hypothesize that when glycogen utilization cannot match synaptic energy demand, extracellular K+ can rise to levels that activate neuronal pannexin-1 channels and downstream inflammatory pathway, which might be one of the mechanisms initiating migraine headaches...
December 15, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29229375/the-pathophysiology-of-migraine-implications-for-clinical-management
#10
REVIEW
Andrew Charles
The understanding of migraine pathophysiology is advancing rapidly. Improved characterisation and diagnosis of its clinical features have led to the view of migraine as a complex, variable disorder of nervous system function rather than simply a vascular headache. Recent studies have provided important new insights into its genetic causes, anatomical and physiological features, and pharmacological mechanisms. The identification of new migraine-associated genes, the visualisation of brain regions that are activated at the earliest stages of a migraine attack, a greater appreciation of the potential role of the cervical nerves, and the recognition of the crucial role for neuropeptides are among the advances that have led to novel targets for migraine therapy...
December 8, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/29208525/novel-familial-mutation-of-lrp5-causing-high-bone-mass-genetic-analysis-clinical-presentation-and-characterization-of-bone-matrix-mineralization
#11
K M Roetzer, G Uyanik, A Brehm, J Zwerina, S Zandieh, T Czech, P Roschger, B M Misof, K Klaushofer
The Wnt signalling pathway is a critical regulator of bone mass and quality. Several heterozygous mutations in the LRP5 gene, a Wnt co-receptor, causing high bone mass (LRP5-HBM) have been described to date. The pathogenic mechanism is thought to be a gain-of-function caused by impaired inhibition of the canonical Wnt signalling pathway, thereby leading to increased bone formation. We report the cases of two affected family members, a 53-year-old mother and her 23-year-old daughter, with high bone mass (T-scores mother: lumbar spine 11...
February 2018: Bone
https://www.readbyqxmd.com/read/29193686/genetic-linkage-studies-for-the-non-geneticist
#12
S Romero
No abstract text is available yet for this article.
November 28, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29188608/-cadasil-with-clinical-manifestations-of-baldness-lumbago-and-parkinson-s-symptoms
#13
Zhixia Ren, Shuai Chen, Yingying Shi, Yuanxing Zhang, Wan Wang, Zuzhi Chen, Mingrong Xia, Xiaohong Shi, Jiewen Zhang
OBJECTIVE: To investigate a cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy (CADASIL) case with clinical manifestations of baldness, lumbago and Parkinson's symptoms. METHODS: Clinical and imaging data of the patient were analyzed. The patient and his family members were also subjected to genetic testing. RESULTS: The symptoms of the patient included recurrent stroke, dementia, and mood disturbance, in addition with lumbago, baldness and Parkinson's symptoms but no migraine...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29187544/genetically-intact-but-functionally-impaired-hiv-1-env-glycoproteins-in-the-t-cell-reservoir
#14
Anne de Verneuil, Julie Migraine, Fabrizio Mammano, Jean-Michel Molina, Sébastien Gallien, Hugo Mouquet, Allan J Hance, François Clavel, Jacques Dutrieux
HIV-infected subjects under ART harbor a persistent viral reservoir in resting CD4+ T-cells, which accounts for the resurgence of HIV replication after ART interruption. A large majority of HIV reservoir genomes are genetically defective, but even among intact proviruses, few seem able to generate infectious virus. To understand this phenomenon, we have examined the function and expression of HIV envelope glycoproteins reactivated from the reservoir of 4 HIV-infected subjects under suppressive ART. We studied full-length genetically intact env sequences from both replicative viruses and cell-associated mRNAs...
November 29, 2017: Journal of Virology
https://www.readbyqxmd.com/read/29171645/cardiovascular-risk-factors-and-white-matter-hyperintensities-in-patients-with-migraine-without-aura
#15
Ceyla Ataç Uçar, Hafize Nalan Güneş, Cemile Sencer Demircan, Burcu Gökçe Çokal, Selda Keskin Güler, Tahir Kurtuluş Yoldaş
OBJECTIVES: White matter hyperintensities (WMHs) are observed in patients with migraine with aura (MWA) and without aura (MWO), but there are a limited number of studies regarding patients with MWA. In this study, we aimed to investigate the cardiovascular risk factors which may play a role in the development of WMHs in patients with MWO. METHODS: This observational, analytical, case-control study was conducted between June 2016 and January 2017. It included 21 patients with MWO who had WMHs on brain MRI and 19 patients with MWO who tested normal on MRI (control group) at the Neurology Department Outpatient Polyclinic, Ankara Training and Research Hospital...
October 2017: Aǧrı: Ağrı (Algoloji) Derneği'nin Yayın Organıdır, the Journal of the Turkish Society of Algology
https://www.readbyqxmd.com/read/29146952/migrainomics-identifying-brain-and-genetic-markers-of-migraine
#16
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...
December 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29145747/two-novel-families-with-hemiplegic-migraine-caused-by-recurrent-scn1a-mutation-p-f1499l
#17
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
#18
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
#19
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 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29108421/neonatal-arterial-ischemic-stroke-risk-related-to-family-history-maternal-diseases-and-genetic-thrombophilia
#20
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
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