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Hemiplegic Migraine

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https://www.readbyqxmd.com/read/29145747/two-novel-families-with-hemiplegic-migraine-caused-by-recurrent-scn1a-mutation-p-f1499l
#1
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
#2
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 9, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29041816/enhanced-susceptibility-to-cortical-spreading-depression-in-two-types-of-na-k-atpase-%C3%AE-2-subunit-deficient-mice-as-a-model-of-familial-hemiplegic-migraine-2
#3
Miyuki Unekawa, Keiko Ikeda, Yutaka Tomita, Kiyoshi Kawakami, Norihiro Suzuki
Background Patients with familial hemiplegic migraine type 2 (FHM2) have a mutated ATP1A2 gene (encoding Na(+),K(+)-ATPase α2 subunit) and show prolonged migraine aura. Cortical spreading depression (CSD), which involves mass depolarization of neurons and astrocytes that propagates slowly through the gray matter, is profoundly related to aura. Methods In two types of Atp1a2-defective heterozygous mice, Atp1a2(tm1Kwk) (C-KO) and Atp1a2(tm2Kwk) (N-KO), the sensitivity and responsiveness to CSD were examined under urethane anesthesia...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28988699/disruption-of-ankyrin-b-and-caveolin-1-interaction-sites-alters-na-k-atpase-membrane-diffusion
#4
Cornelia Junghans, Vladana Vukojević, Neslihan N Tavraz, Eugene G Maksimov, Werner Zuschratter, Franz-Josef Schmitt, Thomas Friedrich
The Na(+),K(+)-ATPase is a plasma membrane ion transporter of high physiological importance for ion homeostasis and cellular excitability in electrically active tissues. Mutations in the genes coding for Na(+),K(+)-ATPase α-subunit isoforms lead to severe human pathologies including Familial Hemiplegic Migraine type 2, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia Parkinsonism, or epilepsy. Many of the reported mutations lead to change- or loss-of-function effects, whereas others do not alter the functional properties, but lead to, e...
October 5, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28918117/mild-traumatic-brain-injury-in-a-high-school-football-player-with-familial-hemiplegic-migraine-a-case-report
#5
Manisha R Chand, Sumit Kanwar, Evan Peck
Mild traumatic brain injury is a major concern in young athletes, with an estimated 1.6-3.8 million reported concussions in the United States annually. Familial hemiplegic migraine is a rare autosomal-dominant condition characterized by sporadic episodes of transient unilateral motor weakness that may begin at any age. We present a case of a 17-year-old boy with a history of familial hemiplegic migraine who suffered prolonged symptoms after a mild traumatic brain injury during sports participation. LEVEL OF EVIDENCE: To be determined...
September 14, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28900389/cerebellar-atrophy-and-changes-in-cytokines-associated-with-the-cacna1a-r583q-mutation-in-a-russian-familial-hemiplegic-migraine-type-1-family
#6
Svetlana F Khaiboullina, Elena G Mendelevich, Leyla H Shigapova, Elena Shagimardanova, Guzel Gazizova, Alexey Nikitin, Ekaterina Martynova, Yuriy N Davidyuk, Enver I Bogdanov, Oleg Gusev, Arn M J M van den Maagdenberg, Rashid A Giniatullin, Albert A Rizvanov
Background: Immune mechanisms recently emerged as important contributors to migraine pathology with cytokines affecting neuronal excitation. Therefore, elucidating the profile of cytokines activated in various forms of migraine, including those with a known genetic cause, can help in diagnostic and therapeutic approaches. Methods: Here we (i) performed exome sequencing to identify the causal gene mutation and (ii) measured, using Bio-Plex technology, 22 cytokines in serum of patients with familial migraine (two with hemiplegic migraine and two with migraine with aura) from a Russian family that ethnically belongs to the Tatar population...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28870817/-prrt2-mutation-and-infantile-convulsions
#7
M Mathot, D Lederer, S Gerard, E Gueulette, M Deprez
New genetic techniques have made it possible to better understand the implications of the PRRT2 gene (proline rich transmembrane protein 2) in various neurological disorders. Mutations within this gene are responsible for kinesigenic paroxysmal dyskinesias (PKD) as well as for benign familial infantile epilepsy (BFIE), a disease associating infantile convulsions and choreoathetosis (ICCA), a form of familial hemiplegic migraine (FHM type 4), paroxysmal benign torticollis of childhood, and episodic ataxia. We describe the case of an infant, carrying a mutation of the PRRT2 gene, with a classical presentation...
September 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28856914/ten-years-of-follow-up-in-a-large-family-with-familial-hemiplegic-migraine-type-1-clinical-course-and-implications-for-treatment
#8
Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Evelin Donnemiller, Michaela Wagner, Iris Unterberger, Sylvia Boesch
Background Familial hemiplegic migraine (FHM) is a rare, genetic form of migraine with aura. The severity of the aura imposes an effective prophylaxis that is currently based on standard anti-migraine drugs. To this concern, only short-term reports are currently available. Methods Eight patients from a multigenerational FHM type 1 family harbouring a T666M mutation in the CACNA1A gene were referred to our ataxia outpatient clinic. Medical history, general and neurological examination as well as therapeutic approaches were recorded regularly on a routine basis for an average period of 13 years (range 9-15 years)...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28822016/in-situ-imaging-reveals-properties-of-purinergic-signalling-in-trigeminal-sensory-ganglia-in-vitro
#9
Arletta Nowodworska, Arn M J M van den Maagdenberg, Andrea Nistri, Elsa Fabbretti
Chronic pain is supported by sterile inflammation that induces sensitisation of sensory neurons to ambient stimuli including extracellular ATP acting on purinergic P2X receptors. The development of in vitro methods for drug screening would be useful to investigate cell crosstalk and plasticity mechanisms occurring during neuronal sensitisation and sterile neuroinflammation. Thus, we studied, at single-cell level, membrane pore dilation based on the uptake of a fluorescent probe following sustained ATP-gated P2X receptor function in neurons and non-neuronal cells of trigeminal ganglion cultures from wild-type (WT) and R192Q CaV2...
August 18, 2017: Purinergic Signalling
https://www.readbyqxmd.com/read/28811059/an-infant-with-epilepsy-and-recurrent-hemiplegia-due-to-compound-heterozygous-variants-in-atp1a2
#10
Colin Wilbur, Sarah E Buerki, Ilaria Guella, Eric B Toyota, Daniel M Evans, Marna B McKenzie, Anita Datta, Aspasia Michoulas, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Matthew J Farrer, Mary B Connolly, Michelle Demos
BACKGROUND: Pathogenic heterozygous variants in the ATP1A2 gene have most commonly been associated with familial hemiplegic migraine. However, a wide spectrum of phenotypes that include alternating hemiplegia of childhood and epilepsy have been described. PATIENT DESCRIPTION: We describe a boy who presented at age three months with a complex phenotype that included epilepsy, nonepileptic paroxysmal events, and recurrent hemiplegia. Magnetic resonance imaging demonstrated unilateral cortical edema during a severe episode of hemiplegia that was followed by a persistent mild hemiparesis...
June 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28792272/trigeminovascular-calcitonin-gene-related-peptide-function-in-cacna1a-r192q-mutated-knock-in-mice
#11
Kayi Y Chan, Alejandro Labastida-Ramírez, Martha B Ramírez-Rosas, Sieneke Labruijere, Ingrid M Garrelds, Alexander Hj Danser, Arn Mjm van den Maagdenberg, Antoinette MaassenVanDenBrink
Familial hemiplegic migraine type 1 (FHM1) is a rare migraine subtype. Whereas transgenic knock-in mice with the human pathogenic FHM1 R192Q missense mutation in the Cacna1a gene reveal overall neuronal hyperexcitability, the effects on the trigeminovascular system and calcitonin gene-related peptide (CGRP) receptor are largely unknown. This gains relevance as blockade of CGRP and its receptor are therapeutic targets under development. Hence, we set out to test these effects in FHM1 mice. We characterized the trigeminovascular system of wild-type and FHM1 mice through: (i) in vivo capsaicin- and CGRP-induced dural vasodilation in a closed-cranial window; (ii) ex vivo KCl-induced CGRP release from isolated dura mater, trigeminal ganglion and trigeminal nucleus caudalis; and (iii) peripheral vascular function in vitro ...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28750589/brain-atrophy-following-hemiplegic-migraine-attacks
#12
Nadine Pelzer, Evelien S Hoogeveen, Michel D Ferrari, Bwee Tien Poll-The, Mark C Kruit, Gisela M Terwindt
Background Patients with hemiplegic migraine (HM) may sometimes develop progressive neurological deterioration of which the pathophysiology is unknown. Patient We report a 16-year clinical and neuroradiological follow-up of a patient carrying a de novo p.Ser218Leu CACNA1A HM mutation who had nine severe HM attacks associated with seizures and decreased consciousness between the ages of 3 and 12 years. Results Repeated ictal and postictal neuroimaging revealed cytotoxic oedema during severe HM attacks in the symptomatic hemisphere, which later showed atrophic changes...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28702766/erratum-to-de-novo-exonic-duplication-of-atp1a2-in-italian-patient-with-hemiplegic-migraine-a-case-report
#13
Stella Gagliardi, Gaetano Salvatore Grieco, Francesca Gualandi, Luisa Maria Caniatti, Elisabetta Groppo, Marialuisa Valente, Nappi Giuseppe, Marcella Neri, Cristina Cereda
No abstract text is available yet for this article.
December 2017: Journal of Headache and Pain
https://www.readbyqxmd.com/read/28645128/-headache-news
#14
Hans-Christoph Diener, Charly Gaul, Dagny Holle-Lee, Lazaros Lazaridis, Steffen Nägel, Mark Obermann
A review of the latest and most relevant information on different disorders of head and facial pain is presented. News from epidemiologic studies regarding the relationship between migraine and patent foramen ovale, the cardiovascular risk in migraine, and migraine behavior during menopause, and the development of white matter lesions or migraine genetics are presented. Regarding pathophysiology there are very recent insights regarding the role of the hypothalamus during prodromal phase and the interplay of brain-stem and hypothalamus during the attack...
June 2017: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/28637637/alternating-hemiplegia-of-childhood-and-a-pathogenic-variant-of-atp1a3-a-case-report-and-pathophysiological-considerations
#15
Elena Pavlidis, Peter Uldall, Camilla Gøbel Madsen, Marina Nikanorova, Martin Fabricius, Hans Høgenhaven, Francesco Pisani, Rikke S Møller, Elena Gardella, Guido Rubboli
We describe a case of a child suffering from alternating hemiplegia with a heterozygous p. E815K pathogenic variant of ATP1A3. The patient started to present abnormal eye movements in the first days of life, followed by the appearance at 2 months of dystonic episodes, and later on, by recurrent episodes of alternating hemiplegia more often on the right side. A severe epilepsy started at the age of 2 years with episodes of status epilepticus since the onset which frequently recurred, requiring admission to the intensive care unit...
June 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28601240/first-episode-of-hemiplegic-migraine
#16
Stephanie Ahrens, Adam Ostendorf
No abstract text is available yet for this article.
September 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28593511/de-novo-exonic-duplication-of-atp1a2-in-italian-patient-with-hemiplegic-migraine-a-case-report
#17
Stella Gagliardi, Gaetano Salvatore Grieco, Francesca Gualandi, Luisa Maria Caniatti, Elisabetta Groppo, Marialuisa Valente, Giuseppe Nappi, Marcella Neri, Cristina Cereda
BACKGROUND: Sporadic Hemiplegic Migraine is a rare form of migraine headache. Mutations in three different genes, two ion-channel genes and one encoding an ATP exchanger, CACNA1A, ATP1A2 and SCN1A are all responsible for the FHM phenotype, thus indicating a genetic heterogeneity for this disorder. Here, we described a de novo exonic duplication of ATP1A2 in an Italian patient with Hemiplegic Migraine. CASE PRESENTATION: We describe the case of a young woman (33 year old) who suffered from the age of 8 years of episodic weakness of the limbs, associated to other subjective and objective features...
December 2017: Journal of Headache and Pain
https://www.readbyqxmd.com/read/28573794/possible-involvement-of-the-cacna1e-gene-in-migraine-a-search-for-single-nucleotide-polymorphism-in-different-clinical-phenotypes
#18
Anna Ambrosini, Mara D'Onofrio, Maria Gabriella Buzzi, Ivan Arisi, Gaetano S Grieco, Francesco Pierelli, Filippo M Santorelli, Jean Schoenen
OBJECTIVE: To search for differences in prevalence of a CACNA1E variant between migraine without aura, various phenotypes of migraine with aura, and healthy controls. BACKGROUND: Familial hemiplegic migraine type 1 (FHM1) is associated with mutations in the CACNA1A gene coding for the alpha 1A (Cav 2.1) pore-forming subunit of P/Q voltage-dependent Ca(2+) channels. These mutations are not found in the common forms of migraine with or without aura. The alpha 1E subunit (Cav 2...
July 2017: Headache
https://www.readbyqxmd.com/read/28566180/improved-strength-on-5-hydroxytryptophan-and-carbidopa-in-spinal-cord-atrophy
#19
Gabriella A Horvath, Lorelyn Meisner, Kathryn Selby, Robert Stowe, Bruce Carleton
There is ample evidence of an important role of descending serotonergic projections in modulating spinal motor neuron activation and firing, and experimental studies suggest that 5-HT receptor stimulation can improve motor function after spinal cord injury; however, relevant clinical data is sorely lacking. We describe two sisters with hemiplegic migraine, low CSF and platelet serotonin levels, and progressive spastic paraparesis associated with profound spinal cord atrophy whose lower extremity strength and ambulation responded to a precursor replacement strategy (5-hydroxytryptophan and carbidopa administration), an approach that may have broader applicability in myelopathies of diverse etiology where descending serotonergic projections are compromised...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28559833/acute-intravenous-calcium-antagonist-for-suspected-hemiplegic-migraine-a-case-story
#20
Charlotte Lützhøft Rath, Jun He, Mette Maria Nordling, Troels Wienecke
Stroke mimics, like attacks of hemiplegic migraine, are challenging in acute stroke evaluation. We present a 28-year-old woman with a suspected hemiplegic migraine attack with left-sided hemiparalysis. Brain CT with perfusion imaging 1 h 54 min after symptom onset revealed hypoperfusion in the right hemisphere. The patient was treated with intravenous recombinant tissue plasminogen activator (rtPA) with no effect. After a subsequent intravenous verapamil infusion, the patient gained full motor function within 10 min...
January 2017: Case Reports in Neurology
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