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Hemiplegic Migraine

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https://www.readbyqxmd.com/read/29770609/whole-exome-sequencing-for-variant-discovery-in-blepharospasm
#1
Jun Tian, Satya R Vemula, Jianfeng Xiao, Enza Maria Valente, Giovanni Defazio, Simona Petrucci, Angelo Fabio Gigante, Monika Rudzińska-Bar, Zbigniew K Wszolek, Kathleen D Kennelly, Ryan J Uitti, Jay A van Gerpen, Peter Hedera, Elizabeth J Trimble, Mark S LeDoux
BACKGROUND: Blepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplete penetrance, and late age of onset. Although several genetic etiologies for dystonia have been identified through whole-exome sequencing (WES), none of these are characteristically associated with BSP as a singular or predominant manifestation...
May 16, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29762872/the-effect-of-onabotulinumtoxina-on-aura-frequency-and-severity-in-patients-with-hemiplegic-migraine-case-series-of-11-patients
#2
Tiffany Y Chen, Ivan Garza, David W Dodick, Carrie E Robertson
BACKGROUND: OnabotulinumtoxinA has been demonstrated to be effective for the preventive treatment of headache in individuals with chronic migraine and has been approved and recommended for this patient population. While the therapeutic effect of onabotulinumtoxinA on migraine headache is well documented, there is limited information on the effect of onabotulinumtoxinA on migraine aura. OBJECTIVE: Given the prolonged and often debilitating nature of aura in patients with hemiplegic migraine, our group sought to examine the effect of onabotulinumtoxinA on aura frequency and severity in this specific subset of migraine patients...
May 15, 2018: Headache
https://www.readbyqxmd.com/read/29731251/common-variant-burden-contributes-to-the-familial-aggregation-of-migraine-in-1-589-families
#3
Padhraig Gormley, Mitja I Kurki, Marjo Eveliina Hiekkala, Kumar Veerapen, Paavo Häppölä, Adele A Mitchell, Dennis Lal, Priit Palta, Ida Surakka, Mari Anneli Kaunisto, Eija Hämäläinen, Salli Vepsäläinen, Hannele Havanka, Hanna Harno, Matti Ilmavirta, Markku Nissilä, Erkki Säkö, Marja-Liisa Sumelahti, Jarmo Liukkonen, Matti Sillanpää, Liisa Metsähonkala, Seppo Koskinen, Terho Lehtimäki, Olli Raitakari, Minna Männikkö, Caroline Ran, Andrea Carmine Belin, Pekka Jousilahti, Verneri Anttila, Veikko Salomaa, Ville Artto, Markus Färkkilä, Heiko Runz, Mark J Daly, Benjamin M Neale, Samuli Ripatti, Mikko Kallela, Maija Wessman, Aarno Palotie
Complex traits, including migraine, often aggregate in families, but the underlying genetic architecture behind this is not well understood. The aggregation could be explained by rare, penetrant variants that segregate according to Mendelian inheritance or by the sufficient polygenic accumulation of common variants, each with an individually small effect, or a combination of the two hypotheses. In 8,319 individuals across 1,589 migraine families, we calculated migraine polygenic risk scores (PRS) and found a significantly higher common variant burden in familial cases (n = 5,317, OR = 1...
April 27, 2018: Neuron
https://www.readbyqxmd.com/read/29723522/transcriptomic-profiling-of-trigeminal-nucleus-caudalis-and-spinal-cord-dorsal-horn
#4
Lisette J A Kogelman, Rikke Elgaard-Christensen, Jes Olesen, Inger Jansen-Olesen, Thomas F Hansen
The pain sensation system is highly conserved among species, thus animal models have been used to investigate relevant tissues. The focus for head-specific pain has been on the primary nociceptive neurons in the trigeminal pathway, i.e. trigeminal ganglia. The secondary nociceptive neurons of the trigeminal pathway, trigeminal nucleus caudalis (TNC), have not been assessed. We expect different gene expression profiles compared to the homologous spinal cord dorsal horn (SDH), as several signalling substances provoke head-specific pain but not peripheral pain...
April 30, 2018: Brain Research
https://www.readbyqxmd.com/read/29651899/caffeine-does-not-affect-susceptibility-to-cortical-spreading-depolarization-in-mice
#5
Nilufer Yalcin, Shih-Pin Chen, Esther S Yu, Tzu-Ting Liu, Jiin-Cherng Yen, Yahya B Atalay, Tao Qin, Furkan Celik, Arn Mjm van den Maagdenberg, Michael A Moskowitz, Cenk Ayata, Katharina Eikermann-Haerter
Several factors that modulate migraine, a common primary headache disorder, also affect susceptibility to cortical spreading depolarization (CSD). CSD is a wave of neuronal and glial depolarization and thought to underlie the migraine aura and possibly headache. Here, we tested whether caffeine, known to alleviate or trigger headache after acute exposure or chronic use/withdrawal, respectively, modulates CSD. We injected C57BL/6J mice with caffeine (30, 60, or 120 mg/kg; i.p.) once (acute) or twice per day for one or two weeks (chronic)...
January 1, 2018: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/29610157/clinical-benefit-of-nmda-receptor-antagonists-in-a-patient-with-atp1a2-gene-mutation
#6
Keisuke Ueda, Fatema Serajee, Ahm M Huq
Mutations in the ATP1A2 gene cause familial hemiplegic migraine type 2, alternating hemiplegia of childhood, and cerebellar function deficits, epilepsy, and mental retardation. These symptoms are likely related to glutamatergic hyperexcitability. Our patient is a 12-year-old boy with a history of complex partial seizures, attention-deficit/hyperactivity disorder, and fine motor difficulty. During early childhood, he had episodes of a self-resolving right-sided hemiparesis and focal epilepsy. His seizures did not respond to several antiepileptic medications but stopped after he received valproate...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29575082/somatic-sprouts-of-the-purkinje-cells-in-a-patient-with-multiple-system-atrophy
#7
Kenji Sakai, Chiho Ishida, Yuko Kato-Motozaki, Atsuro Tagami, Kiyonobu Komai, Masahito Yamada
We describe the post mortem case of a 71-year-old Japanese woman diagnosed as having multiple system atrophy (MSA), showing somatic sprouting formation of Purkinje cells. The patient had suffered from frequent falling episodes and clumsiness of the left hand since the age of 67 years. Orthostatic hypotension and parkinsonism subsequently emerged. Typical neuropathological features of MSA, including degeneration of the striatum, pontine base and cerebellum with abundance of phosphorylated α-synuclein-positive neuronal and glial cytoplasmic and nuclear inclusions in the brain, were observed...
March 25, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29553379/hemiplegic-migraine-and-stroke-in-mary-shelley
#8
Philippe Charlier, Otto Appenzeller, Saudamini Deo, Antonio Perciaccante, Raffaella Bianucci
No abstract text is available yet for this article.
April 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29513112/smooth-muscle-ca-2-sensitization-causes-hypercontractility-of-middle-cerebral-arteries-in-mice-bearing-the-familial-hemiplegic-migraine-type-2-associated-mutation
#9
Christian Staehr, Lise Hangaard, Elena V Bouzinova, Sukhan Kim, Rajkumar Rajanathan, Peter Boegh Jessen, Nathan Luque, Zijian Xie, Karin Lykke-Hartmann, Shaun L Sandow, Christian Aalkjaer, Vladimir V Matchkov
Familial hemiplegic migraine type 2 (FHM2) is associated with inherited point-mutations in the Na,K-ATPase α2 isoform, including G301R mutation. We hypothesized that this mutation affects specific aspects of vascular function, and thus compared cerebral and systemic arteries from heterozygote mice bearing the G301R mutation (Atp1a2+/-G301R ) with wild type (WT). Middle cerebral (MCA) and mesenteric small artery (MSA) function was compared in an isometric myograph. Cerebral blood flow was assessed with Laser speckle analysis...
January 1, 2018: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/29512871/flunarizine-in-migraine-related-headache-prevention-results-from-200-patients-treated-in-the-uk
#10
N Karsan, D Palethorpe, W Rattanawong, J C Marin, R Bhola, P J Goadsby
BACKGROUND AND PURPOSE: For over 20 years, as a group we have been using flunarizine in primary headache disorders. Flunarizine is widely used in Europe, but not licensed in the UK. In September 2014, the National Institute for Clinical Excellence published supportive guidelines for flunarizine use in migraine, based on randomized controlled evidence that it is as effective as propranolol and topiramate in adults. METHODS: We reviewed a cohort of adult patients (n = 200) treated with flunarizine from our practice...
June 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29508147/glutamate-and-its-receptors-as-therapeutic-targets-for-migraine
#11
REVIEW
Jan Hoffmann, Andrew Charles
There is substantial evidence indicating a role for glutamate in migraine. Levels of glutamate are higher in the brain and possibly also in the peripheral circulation in migraine patients, particularly during attacks. Altered blood levels of kynurenines, endogenous modulators of glutamate receptors, have been reported in migraine patients. Population genetic studies implicate genes that are involved with glutamate signaling in migraine, and gene mutations responsible for familial hemiplegic migraine and other familial migraine syndromes may influence glutamate signaling...
April 2018: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/29500071/transient-regional-cerebral-hypoperfusion-during-a-paroxysmal-hemiplegic-event-in-glut1-deficiency-syndrome
#12
Mohamed Almuqbil, Michael J Rivkin, Masanori Takeoka, Edward Yang, Lance H Rodan
GLUT1 deficiency syndrome (GLUT1DS) is a well described neurometabolic disorder that results from impaired glucose transport into the central nervous system. GLUT1DS classically presents with infantile-onset epilepsy, progressive microcephaly, developmental delay, ataxia, dystonia, and spasticity, but a minority of patients may manifest with paroxysmal non-epileptic phenomena including hemiparesis (Wang et al., 2002). We report for the first time cerebral perfusion changes during an acute episode of hemiparesis in a 9 year old child with GLUT1DS...
May 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29486580/the-contribution-of-cacna1a-atp1a2-and-scn1a-mutations-in-hemiplegic-migraine-a-clinical-and-genetic-study-in-finnish-migraine-families
#13
Marjo Eveliina Hiekkala, Pietari Vuola, Ville Artto, Paavo Häppölä, Elisa Häppölä, Salli Vepsäläinen, Ester Cuenca-León, Dennis Lal, Padhraig Gormley, Eija Hämäläinen, Matti Ilmavirta, Markku Nissilä, Erkki Säkö, Marja-Liisa Sumelahti, Hanna Harno, Hannele Havanka, Petra Keski-Säntti, Markus Färkkilä, Aarno Palotie, Maija Wessman, Mari Anneli Kaunisto, Mikko Kallela
Objective To study the position of hemiplegic migraine in the clinical spectrum of migraine with aura and to reveal the importance of CACNA1A, ATP1A2 and SCN1A in the development of hemiplegic migraine in Finnish migraine families. Methods The International Classification of Headache Disorders 3rd edition criteria were used to determine clinical characteristics and occurrence of hemiplegic migraine, based on detailed questionnaires, in a Finnish migraine family collection consisting of 9087 subjects. Involvement of CACNA1A, ATP1A2 and SCN1A was studied using whole exome sequencing data from 293 patients with hemiplegic migraine...
January 1, 2018: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/29470411/stroke-like-episodes-and-cerebellar-syndrome-in-phosphomannomutase-deficiency-pmm2-cdg-evidence-for-hypoglycosylation-driven-channelopathy
#14
Mercè Izquierdo-Serra, Antonio F Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M Fernández-Fernández, Mercedes Serrano
Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV 2.1 channel). The underlying pathomechanisms are unknown. We analyze clinical variables to detect risk factors for SLE in a series of 43 PMM2-CDG patients. We explore the hypothesis of abnormal CaV 2.1 function due to aberrant N -glycosylation as a potential novel pathomechanism of SLE and ataxia in PMM2-CDG by using whole-cell patch-clamp, N -glycosylation blockade and mutagenesis...
February 22, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29384561/ocular-dipping-in-a-patient-with-hemiplegic-migraine
#15
Iga N Gray, Ana G Cristancho, Daniel J Licht, Grant T Liu
A 5-year-old girl presented with acute, rapidly progressive encephalopathy following minor head trauma and was found to have ocular dipping. Her encephalopathy was secondary to a channelopathy caused by a CACNA1A mutation. This is the first reported case of ocular dipping in an encephalopathic child with CACNA1A-confirmed hemiplegic migraine. [J Pediatr Ophthalmol Strabismus. 2018;55:e4-e6.].
January 31, 2018: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29366381/an-atypical-rett-syndrome-phenotype-due-to-a-novel-missense-mutation-in-cacna1a
#16
Madison V Epperson, Michael E Haws, Shannon M Standridge, Donald L Gilbert
BACKGROUND: Some typical and atypical Rett syndrome patients lack known genetic mutations. Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome. Patient Description: The authors describe a female patient with developmental regression and a de novo, likely pathogenic mutation in CACNA1A who meets 3 of 4 main criteria (stereotypic hand movements, loss of purposeful hand movements, gait disturbance), and 6 of 11 supportive criteria (impaired sleep, abnormal tone, vasomotor disturbance, scoliosis, growth retardation, and screaming spells) for atypical Rett syndrome...
March 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29343472/clinical-spectrum-of-hemiplegic-migraine-and-chances-of-finding-a-pathogenic-mutation
#17
Nadine Pelzer, Joost Haan, Anine H Stam, Lisanne S Vijfhuizen, Stephany C Koelewijn, Amber Smagge, Boukje de Vries, Michel D Ferrari, Arn M J M van den Maagdenberg, Gisela M Terwindt
OBJECTIVE: To investigate whether the clinical characteristics of patients with hemiplegic migraine with and without autosomal dominant mutations in CACNA1A , ATP1A2 , or SCN1A differ, and whether the disease may be caused by mutations in other genes. METHODS: We compared the clinical characteristics of 208 patients with familial (n = 199) or sporadic (n = 9) hemiplegic migraine due to a mutation in CACNA1A , ATP1A2 , or SCN1A with those of 73 patients with familial (n = 49) or sporadic (n = 24) hemiplegic migraine without a mutation in these genes...
February 13, 2018: Neurology
https://www.readbyqxmd.com/read/29236896/sulcal-hyperintensity-mimicking-subarachnoid-hemorrhage-in-the-context-of-hemiplegic-migraine
#18
Elton Francisco Pavan Batista, Marcos Rosa, Marcelo Ramos Muniz
No abstract text is available yet for this article.
December 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29145747/two-novel-families-with-hemiplegic-migraine-caused-by-recurrent-scn1a-mutation-p-f1499l
#19
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/29129678/pathophysiological-mechanisms-of-migraine-and-epilepsy-similarities-and-differences
#20
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...
February 22, 2018: Neuroscience Letters
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