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Hemiplegic Migraine

N Karsan, P Prabhakar, P J Goadsby
BACKGROUND: The premonitory stage of migraine attacks, when symptomatology outside of pain can manifest hours to days before the onset of the headache, is well recognised. Such symptoms have been reported in adults in a number of studies, and have value in predicting an impending headache. These symptoms have not been extensively studied in children. We aimed to characterise which, if any, of these symptoms are reported in children seen within a Specialist Headache Service. METHODS: We reviewed clinic letters from the initial consultation of children and adolescents seen within the Specialist Headache Service at Great Ormond Street Hospital between 1999 and 2015 with migraine in whom we had prospectively assessed clinical phenotype data...
December 2016: Journal of Headache and Pain
Ronald Zielman, Rudmer Postma, Aswin Verhoeven, Floor Bakels, Willebrordus P J van Oosterhout, Axel Meissner, Arn M J M van den Maagdenberg, Gisela M Terwindt, Oleg A Mayboroda, Michel D Ferrari
BACKGROUND: Migraine is a common episodic brain disorder. Treatment options and diagnosis are hampered by an incomplete understanding of disease pathophysiology and the lack of objective diagnostic markers. The aim of this study was to identify biochemical differences characteristic for different subtypes of migraine in cerebrospinal fluid (CSF) of migraine patients using an exploratory (1)H-NMR-based metabolomics approach. METHODS: CSF was obtained, in between migraine attacks, via lumbar puncture from patients with hemiplegic migraine, migraine with aura, migraine without aura, and healthy controls...
October 13, 2016: Molecular BioSystems
Francesca Camia, Livia Pisciotta, Giovanni Morana, Maria Cristina Schiaffino, Salvatore Renna, Paola Carrera, Maurizio Ferrari, Maria Giuseppina Baglietto, Edvige Veneselli, Laura Siri, Maria Margherita Mancardi
INTRODUCTION: Variants in the CACNA1A gene on chromosome 19p13 result in a spectrum of neurological phenotypes ranging from familial or sporadic hemiplegic migraine to congenital or progressive encephalopathies. Patients with CACNA1A variants often show acute attacks with ataxia or hemiplegia till coma, sometimes related to unilateral brain oedema. No guidelines for the medical management of these attacks are available since treatment is empiric, and many cases do not respond to common antimigraine drugs...
September 19, 2016: Cephalalgia: An International Journal of Headache
Thomas Friedrich, Neslihan N Tavraz, Cornelia Junghans
Mutations in four genes have been identified in familial hemiplegic migraine (FHM), from which CACNA1A (FHM type 1) and SCN1A (FHM type 3) code for neuronal voltage-gated calcium or sodium channels, respectively, while ATP1A2 (FHM type 2) encodes the α2 isoform of the Na(+),K(+)-ATPase's catalytic subunit, thus classifying FHM primarily as an ion channel/ion transporter pathology. FHM type 4 is attributed to mutations in the PRRT2 gene, which encodes a proline-rich transmembrane protein of as yet unknown function...
2016: Frontiers in Physiology
Hai-Shan Jiang, Dong-Mei Wang, Qun Wang, Man Yang, Wei Wang, Su-Yue Pan, Ya-Fang Hu
OBJECTIVE: Mutations in CACNA1A, which encodes the P/Q-type calcium channel subunit, are responsible for at least 3 allelic diseases, namely type 2 episodic ataxia (EA-2), familial hemiplegic migraine?type-1 (FHM1), and spinocerebellar ataxia type-6?(SCA 6). Herein we present a case of ataxia with episodic tremors in a 19-year-old man with a missense mutation of CACNA1A gene and summarize the clinical features, genetic analysis and treatment in this case and in his affected family members...
June 20, 2016: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
Clizia Capuani, Marcello Melone, Angelita Tottene, Luca Bragina, Giovanna Crivellaro, Mirko Santello, Giorgio Casari, Fiorenzo Conti, Daniela Pietrobon
Migraine is a common disabling brain disorder. A subtype of migraine with aura (familial hemiplegic migraine type 2: FHM2) is caused by loss-of-function mutations in α2 Na(+),K(+) ATPase (α2 NKA), an isoform almost exclusively expressed in astrocytes in adult brain. Cortical spreading depression (CSD), the phenomenon that underlies migraine aura and activates migraine headache mechanisms, is facilitated in heterozygous FHM2-knockin mice with reduced expression of α2 NKA The mechanisms underlying an increased susceptibility to CSD in FHM2 are unknown...
2016: EMBO Molecular Medicine
Anna Marchenkova, Arn M J M van den Maagdenberg, Andrea Nistri
Purinergic P2X3 receptors (P2X3Rs) play an important role in pain pathologies, including migraine. In trigeminal neurons, P2X3Rs are constitutively downregulated by endogenous brain natriuretic peptide (BNP). In a mouse knock-in (KI) model of familial hemiplegic migraine type-1 with upregulated calcium CaV2.1 channel function, trigeminal neurons exhibit hyperexcitability with gain-of-function of P2X3Rs and their deficient BNP-mediated inhibition. We studied whether the absent BNP-induced control over P2X3Rs activity in KI cultures may be functionally expressed in altered firing activity of KI trigeminal neurons...
September 7, 2016: Neuroscience
Lila Khennouf, Bodil Gesslein, Barbara Lykke Lind, Arn M J M van den Maagdenberg, Martin Lauritzen
OBJECTIVE: Familial hemiplegic migraine type 1 (FHM1) is a subtype of migraine with aura caused by a gain-of-function mutation in the pore-forming α1 subunit of CaV 2.1 (P/Q-type) calcium channels. However, the mechanisms underlying how the disease is brought about and the prolonged aura remain incompletely understood. METHODS: In the anesthetized FHM1 mouse model in vivo, we used two-photon microscopy to measure calcium changes in neurons and astrocytes during somatosensory stimulations and cortical spreading depression (CSD), the putative mechanism of the migraine aura...
August 2016: Annals of Neurology
Paula F Kinoshita, Jacqueline A Leite, Ana Maria M Orellana, Andrea R Vasconcelos, Luis E M Quintas, Elisa M Kawamoto, Cristoforo Scavone
Decreased Na(+), K(+)-ATPase (NKA) activity causes energy deficiency, which is commonly observed in neurodegenerative diseases. The NKA is constituted of three subunits: α, β, and γ, with four distinct isoforms of the catalytic α subunit (α1-4). Genetic mutations in the ATP1A2 gene and ATP1A3 gene, encoding the α2 and α3 subunit isoforms, respectively can cause distinct neurological disorders, concurrent to impaired NKA activity. Within the central nervous system (CNS), the α2 isoform is expressed mostly in glial cells and the α3 isoform is neuron-specific...
2016: Frontiers in Physiology
Karit Reinson, Eve Õiglane-Shlik, Inga Talvik, Ulvi Vaher, Anne Õunapuu, Margus Ennok, Rita Teek, Sander Pajusalu, Ülle Murumets, Tiiu Tomberg, Sanna Puusepp, Andres Piirsoo, Tiia Reimand, Katrin Õunap
The CACNA1A gene encodes the transmembrane pore-forming alpha-1A subunit of the Cav 2.1 P/Q-type voltage-gated calcium channel. Several heterozygous mutations within this gene, including nonsense mutations, missense mutations, and expansion of cytosine-adenine-guanine repeats, are known to cause three allelic autosomal dominant conditions-episodic ataxia type 2, familial hemiplegic migraine type 1, and spinocerebellar ataxia type 6. An association with epilepsy and CACNA1A mutations has also been described...
August 2016: American Journal of Medical Genetics. Part A
Daniel Martín Fernández-Mayoralas, Mar Jiménez de la Peña, Alberto Fernández-Jaén, Ana Laura Fernández-Perrone
No abstract text is available yet for this article.
May 24, 2016: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
N Pelzer, D E Blom, A H Stam, L S Vijfhuizen, Atm Hageman, J A van Vliet, M D Ferrari, Amjm van den Maagdenberg, J Haan, G M Terwindt
BACKGROUND: Familial hemiplegic migraine (FHM) is a rare monogenic migraine subtype characterised by attacks associated with transient motor weakness. Clinical information is mainly based on reports of small families with only short follow-up. Here, we document a prospective 15-year follow-up of an extended family with FHM type 2. PATIENTS AND METHODS: After diagnosing FHM in a patient with severe attacks associated with coma and fever, we identified eight more family members with FHM and one with possible FHM...
May 24, 2016: Cephalalgia: An International Journal of Headache
Toke J Isaksen, Karin Lykke-Hartmann
A functional Na(+)/K(+)-ATPase consists of a catalytic α subunit and a regulatory β subunit. Four α isoforms of the Na(+)/K(+)-ATPase are found in mammals, each with a unique expression pattern and catalytic activity. The α2 isoform, encoded by the ATP1A2 gene, is primarily found in the central nervous system (CNS) and in heart-, skeletal- and smooth muscle tissues. In the CNS, the α2 isoform is mainly expressed in glial cells. In particular, the α2 isoform is found in astrocytes, important for astrocytic K(+) clearance and, consequently, the indirect uptake of neurotransmitters...
2016: Frontiers in Physiology
Marta Kowalska, MichaÅ Prendecki, Wojciech Kozubski, Margarita Lianeri, Jolanta Dorszewska
Migraine is a common neurological disorder that affects 11% of adults worldwide. This disease most likely has a neurovascular origin. Migraine with aura (MA) and more common form - migraine without aura (MO) - are the two main clinical subtypes of disease. The exact pathomechanism of migraine is still unknown, but it is thought that both genetic and environmental factors are involved in this pathological process. The first genetic studies of migraine were focused on the rare subtype of MA: familial hemiplegic migraine (FHM)...
May 14, 2016: Oncotarget
Rachel A Hadler, Joshua M Schiffman, John G Augoustides, Renyu Liu, Linda Chen
DESIGN: This is a case report. SETTING: The setting is at a postoperative recovery area. PATIENTS: A 52-year-old woman with a history of migraine with unilateral motor symptoms developed hemiparesis after undergoing general anesthesia for total thyroidectomy. INTERVENTIONS: No interventions were performed. MEASUREMENTS/MAIN RESULTS: Head computed tomography and magnetic resonance imaging were normal...
June 2016: Journal of Clinical Anesthesia
Joana Faleiro Oliveira, Susana Rebelo Pacheco, Marta Moniz, Pedro Nunes, Clara Abadesso, Mónica Rebelo, Helena Loureiro, Helena Almeida
Takotsubo syndrome (TTS) is an acquired transient type of systolic dysfunction which mimics myocardial infarction clinically and electrocardiographically. TTS is also known as stress cardiomyopathy, broken heart syndrome, apical ballooning, reversible acute heart failure, neurogenic stunned myocardium or acute catecholamine cardiomyopathy. This case report describes an uncommon presentation of myocardial stunning after an anesthetic procedure. A 14-year-old girl with a history of pineal cyst and hemiplegic migraine was admitted for control brain magnetic resonance imaging...
June 2016: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
Anna Marchenkova, Sandra Vilotti, Niels Ntamati, Arn Mjm van den Maagdenberg, Andrea Nistri
BACKGROUND: On trigeminal ganglion neurons, pain-sensing P2X3 receptors are constitutively inhibited by brain natriuretic peptide via its natriuretic peptide receptor-A. This inhibition is associated with increased P2X3 serine phosphorylation and receptor redistribution to non-lipid raft membrane compartments. The natriuretic peptide receptor-A antagonist anantin reverses these effects. We studied whether P2X3 inhibition is dysfunctional in a genetic familial hemiplegic migraine type-1 model produced by introduction of the human pathogenic R192Q missense mutation into the mouse CACNA1A gene (knock-in phenotype)...
2016: Molecular Pain
Nathalie Chastan, Axel Lebas, Floriane Legoff, Dominique Parain, Lucie Guyant-Marechal
Electroencephalographic (EEG) abnormalities have been reported during migraine attacks but their spatial and temporal distributions are not well known. We report the temporospatial dynamics of EEG during the full duration of a migraine attack with aura in a 19-year-old woman. She experienced episodes of hemiplegic migraine since the age of 2.5 years, with right hemibody paralysis preceded by visual symptoms. She reported severe pain of the right hemibody just before hemiplegia that was enventually suggestive of possible epileptic seizure, justifying diagnostic video-EEG monitoring...
May 4, 2016: Neurophysiologie Clinique, Clinical Neurophysiology
Shih-Pin Chen, Else A Tolner, Katharina Eikermann-Haerter
Migraine is a highly prevalent and disabling neurological disorder with a strong genetic component. Rare monogenic forms of migraine, or syndromes in which migraine frequently occurs, help scientists to unravel pathogenetic mechanisms of migraine and its comorbidities. Transgenic mouse models for rare monogenic mutations causing familial hemiplegic migraine (FHM), cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), and familial advanced sleep-phase syndrome (FASPS), have been created...
June 2016: Cephalalgia: An International Journal of Headache
Brian Roland Larsen, Anca Stoica, Nanna MacAulay
During neuronal activity in the brain, extracellular K(+) rises and is subsequently removed to prevent a widespread depolarization. One of the key players in regulating extracellular K(+) is the Na(+)/K(+)-ATPase, although the relative involvement and physiological impact of the different subunit isoform compositions of the Na(+)/K(+)-ATPase remain unresolved. The various cell types in the brain serve a certain temporal contribution in the face of network activity; astrocytes respond directly to the immediate release of K(+) from neurons, whereas the neurons themselves become the primary K(+) absorbers as activity ends...
2016: Frontiers in Physiology
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