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Hemiplegic Migraine

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https://www.readbyqxmd.com/read/28271496/genetics-of-migraine-insights-into-the-molecular-basis-of-migraine-disorders
#1
REVIEW
Heidi G Sutherland, Lyn R Griffiths
Migraine is a complex, debilitating neurovascular disorder, typically characterized by recurring, incapacitating attacks of severe headache often accompanied by nausea and neurological disturbances. It has a strong genetic basis demonstrated by rare migraine disorders caused by mutations in single genes (monogenic), as well as familial clustering of common migraine which is associated with polymorphisms in many genes (polygenic). Hemiplegic migraine is a dominantly inherited, severe form of migraine with associated motor weakness...
March 8, 2017: Headache
https://www.readbyqxmd.com/read/28223480/in-vivo-imaging-reveals-that-pregabalin-inhibits-cortical-spreading-depression-and-propagation-to-subcortical-brain-structures
#2
Stuart M Cain, Barry Bohnet, Jeffrey LeDue, Andrew C Yung, Esperanza Garcia, John R Tyson, Sascha R A Alles, Huili Han, Arn M J M van den Maagdenberg, Piotr Kozlowski, Brian A MacVicar, Terrance P Snutch
Migraine is characterized by severe headaches that can be preceded by an aura likely caused by cortical spreading depression (SD). The antiepileptic pregabalin (Lyrica) shows clinical promise for migraine therapy, although its efficacy and mechanism of action are unclear. As detected by diffusion-weighted MRI (DW-MRI) in wild-type (WT) mice, the acute systemic administration of pregabalin increased the threshold for SD initiation in vivo. In familial hemiplegic migraine type 1 mutant mice expressing human mutations (R192Q and S218L) in the CaV2...
February 28, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28185542/analysis-of-amplicon-based-ngs-data-from-neurological-disease-gene-panels-a-new-method-for-allele-drop-out-management
#3
Susanna Zucca, Margherita Villaraggia, Stella Gagliardi, Gaetano Salvatore Grieco, Marialuisa Valente, Cristina Cereda, Paolo Magni
BACKGROUND: Amplicon-based targeted resequencing is a commonly adopted solution for next-generation sequencing applications focused on specific genomic regions. The reliability of such approaches rests on the high specificity and deep coverage, although sequencing artifacts attributable to PCR-like amplification can be encountered. Between these artifacts, allele drop-out, which is the preferential amplification of one allele, causes an artificial increase in homozygosity when heterozygous mutations fall on a primer pairing region...
November 8, 2016: BMC Bioinformatics
https://www.readbyqxmd.com/read/28169007/identification-of-the-first-in-poland-cacna1a-gene-mutation-in-familial-hemiplegic-migraine-case-report
#4
Biruta Kierdaszuk, Dorota Dziewulska, Ewa Pronicka, Joanna Trubicka, Dariusz Rokicki, Dorota Piekutowska-Abramczuk, Magdalena Kaliszewska, Katarzyna Tonska, Ewa Bartnik, Rafal Ploski, Anna M Kaminska
INTRODUCTION: Migraine is a common neurological disorder characterized by a particular phenotype, complex pathophysiology and a heterogeneous genetic background. Among several heritable forms, familial hemiplegic migraine is the best described one. In the majority of cases it is caused by mutations in one of three different genes. CASE REPORT: Clinical symptoms of a 47 year old proband (and independently described in his 20 year old son) as well as differential diagnosis are discussed in the presented report...
January 21, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28129950/eeg-findings-during-paroxysmal-hemiplegia-in-a-patient-with-glut1-deficiency
#5
S Pellegrin, G Cantalupo, R Opri, B Dalla Bernardina, F Darra
BACKGROUND: A growing number of studies have disclosed the myriad of features that can suggest the diagnosis of a Glucose-transporter-1 deficiency (GLUT1D). The occurrence of paroxysmal movement disorders such as exercise-induced dystonia and non-kinesigenic dyskinesia, received considerable emphasis, while limited attention has been paid to other paroxysmal phenomena, as transitory neurological disorders. These paroxysmal events are roughly and variably described as limb weakness, hemiparesis or ataxia...
January 17, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28123025/sodium-pumps-mediate-activity-dependent-changes-in-mammalian-motor-networks
#6
Laurence D Picton, Filipe Nascimento, Matthew J Broadhead, Keith T Sillar, Gareth B Miles
Ubiquitously expressed sodium pumps are best known for maintaining the ionic gradients and resting membrane potential required for generating action potentials. However, activity- and state-dependent changes in pump activity can also influence neuronal firing and regulate rhythmic network output. Here we demonstrate that changes in sodium pump activity regulate locomotor networks in the spinal cord of neonatal mice. The sodium pump inhibitor, ouabain, increased the frequency and decreased the amplitude of drug-induced locomotor bursting, effects that were dependent on the presence of the neuromodulator dopamine...
January 25, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28120619/reversible-cortical-thickening-in-hemiplegic-migraine
#7
Isabel Loução de Amorim, Ana Patrícia Antunes, Graça Sá Nunes, Isabel Pavão Martins
No abstract text is available yet for this article.
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28101483/intermittent-theta-slowings-in-contralateral-side-of-weakness-after-sleep-deprivation-on-spot-eeg-in-sporadic-hemiplegic-migraine
#8
Chan-Hyuk Lee, Man-Wook Seo, Byoung-Soo Shin, Tae-Ho Yang, Hyun-June Shin, Han Uk Ryu
Hemiplegic migraine (HM) is an uncommon type of migraine which is classified into sporadic and familial subtype. The noticed electroencephalogram (EEG) findings during HM attack are diffuse slowing contralateral to the weakened limb, but are usually normal in asymptomatic states. A 52-year-old woman who suffered from headache accompanying right arm weakness and aphasic symptoms admitted to our hospital. She underwent total five times of EEG including 2 times before admission. Only the last EEG exam after 24 hours of sleep deprivation (SD) showed intermittent slowing and higher amplitude of positive occipital sharp transients (POSTs) on the left parieto-occipital area...
December 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/28058944/epilepsy-in-hemiplegic-migraine-genetic-mutations-and-clinical-implications
#9
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/28045726/postoperative-hemiplegic-migraine-after-a-laparoscopic-cholecystectomy-a-case-report
#10
Joseph Happel, Albin S Quiko, Huy Phun, Martin Collier, Amy Mortensen
We report the case of a 35-year-old woman who developed severe right-sided hemiplegia and hemisensory loss shortly after emergence from general anesthesia for a laparoscopic cholecystectomy. Her medical history was significant for migraine with aura and a family history of transient hemiparesis thought to be a result of a transient ischemic attack. The patient's deficits slowly resolved, and she was ultimately diagnosed with familial hemiplegic migraine after a negative workup for cerebrovascular accidents.
December 30, 2016: A & A Case Reports
https://www.readbyqxmd.com/read/28007337/missense-mutations-of-cacna1a-are-a-frequent-cause-of-autosomal-dominant-nonprogressive-congenital-ataxia
#11
Lorena Travaglini, Marta Nardella, Emanuele Bellacchio, Adele D'Amico, Alessandro Capuano, Roberto Frusciante, Matteo Di Capua, Raffaella Cusmai, Sabina Barresi, Silvia Morlino, José M Fernández-Fernández, Marina Trivisano, Nicola Specchio, Massimiliano Valeriani, Federico Vigevano, Enrico Bertini, Ginevra Zanni
BACKGROUND: Mutations in the CACNA1A gene, encoding the pore-forming CaV2.1 (P/Q-type) channel α1A subunit, localized at presynaptic terminals of brain and cerebellar neurons, result in clinically variable neurological disorders including hemiplegic migraine (HM) and episodic or progressive adult-onset ataxia (EA2, SCA6). Most recently, CACNA1A mutations have been identified in patients with nonprogressive congenital ataxia (NPCA). METHODS: We performed targeted resequencing of known genes involved in cerebellar dysfunction, in 48 patients with congenital or early onset ataxia associated with cerebellar and/or vermis atrophy...
November 30, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27993427/reconsideration-of-the-diagnosis-and-treatment-of-childhood-migraine-a-practical-review-of-clinical-experiences
#12
Yoshiaki Saito, Gaku Yamanaka, Hideki Shimomura, Kazuhiro Shiraishi, Tomoyuki Nakazawa, Fumihide Kato, Yuko Shimizu-Motohashi, Masayuki Sasaki, Yoshihiro Maegaki
OBJECTIVE: To provide insight into the wide spectrum of migraine during childhood to establish practical and comprehensive treatment strategies. BACKGROUND: Although recent studies have confirmed the effect of anti-migraine agents in childhood headaches fulfilling the criteria of migraine without aura, there have been no studies regarding the efficacy of these drugs in childhood migraine without aura not filling the diagnostic criteria. METHODS: In total, 154 patients with a clinical diagnosis of migraine, with onset of repetitive headaches at the age of ⩽15years, were retrospectively included from clinics in seven tertiary medical centers...
December 16, 2016: Brain & Development
https://www.readbyqxmd.com/read/27980114/sodium-pumps-mediate-activity-dependent-changes-in-mammalian-motor-networks
#13
Laurence D Picton, Filipe Nascimento, Matthew J Broadhead, Keith T Sillar, Gareth B Miles
Ubiquitously expressed sodium pumps are best known for maintaining the ionic gradients and resting membrane potential required for generating action potentials. However, activity- and state-dependent changes in pump activity can also influence neuronal firing and regulate rhythmic network output. Here we demonstrate that changes in sodium pump activity regulate locomotor networks in the spinal cord of neonatal mice. The sodium pump inhibitor, ouabain, increased the frequency and decreased the amplitude of drug-induced locomotor bursting, effects which were dependent on the presence of the neuromodulator dopamine...
December 15, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27919769/transcriptomic-changes-in-rat-cortex-and-brainstem-after-cortical-spreading-depression-with-or-without-pretreatment-with-migraine-prophylactic-drugs
#14
Cèlia Sintas, Noèlia Fernàndez-Castillo, Marta Vila-Pueyo, Patricia Pozo-Rosich, Alfons Macaya, Bru Cormand
Migraine with aura is a subtype of migraine characterized by transient 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. CSD is a depolarization wave that propagates across the cerebral gray matter transiently suppressing neuronal activity. Prophylactic treatments for migraine, such as topiramate or valproate, reduce the number of CSD events...
December 3, 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
#15
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/27881154/targeted-next-generation-sequencing-identifies-novel-notch3-gene-mutations-in-cadasil-diagnostics-patients
#16
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/27871455/episodic-ataxia-and-sca6-within-the-same-family-due-to-the-d302n-cacna1a-gene-mutation
#17
Luca Pradotto, Monica Mencarelli, Matteo Bigoni, Alessandra Milesi, Anna Di Blasio, Alessandro Mauro
Several dominant mutations of CACNA1A gene were associated with at least three different allelic disorders: spino-cerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and familial hemiplegic migraine-1 (FHM1). It is generally thought that loss-of-function mutations are associated with EA2, gain-of-function missense mutations with FHM1, and abnormal CAG expansions with SCA6. But, overlapping features, atypical symptoms and co-occurrence of distinct phenotypes within the same family were reported. We describe a four generation family showing different phenotypes ranging from EA2 to SCA6 and carrying the p...
December 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27818813/familial-hemiplegic-migraine-with-severe-attacks-a-new-report-with-atp1a2-mutation
#18
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/27807184/prevalence-of-lifetime-depression-in-a-large-hemiplegic-migraine-cohort
#19
Mark A Louter, Nadine Pelzer, Irene de Boer, Babette E C Kuijvenhoven, Willebrordus P J van Oosterhout, Erik W van Zwet, Michel D Ferrari, Gisela M Terwindt
OBJECTIVE: To determine the prevalence of depression and determinants associated with depression in a large population of hemiplegic migraine (HM) patients. METHODS: We conducted a cross-sectional, validated questionnaire study among 89 well-defined HM patients and 235 headache-free controls. The prevalence of lifetime depression and its relation to migraine characteristics was assessed. RESULTS: HM patients had increased odds for lifetime depression (odds ratio 3...
November 2, 2016: Neurology
https://www.readbyqxmd.com/read/27790126/hemiplegic-migraine-presenting-with-prolonged-somnolence-a-case-report
#20
Christian Saleh, Geneviève Pierquin, Stefan Beyenburg
Hemiplegic migraine is a rare and complex disease, characterized by migraine with a reversible motor aura. Hemiplegic migraine can be easily misdiagnosed at its first presentation with an atypical severe form of migraine, a stroke, multiple sclerosis, metabolic disorders, conversion disorder or an epilepsy. We present the case of a young 24-year-old male patient, who since the age of 4 years had been having multiple episodes of migraine associated with hemiparesis, paraesthesia, prolonged somnolence, aphasia and confusion...
September 2016: Case Reports in Neurology
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