81. AASH--Headache Journal, Abstracts, 9/97 Wolff Award 1997 Involvement of a Ca 2+ Channel Gene in Familial hemiplegic migraineand Migraine With and Without Aura Roel A. Ophoff, Gisela M. Terwindt http://www.ahsnet.org/journal/archive/sep97abs.php

HEADACHE THE JOURNAL OF HEAD AND FACE PAIN VOLUME 37, NUMBER 8 SEPTEMBER, 1997 CONTENTS OF SEPTEMBER ISSUE ORIGINAL ARTICLES Wolff Award 1997 Involvement of a Ca Channel Gene in Familial Hemiplegic Migraine and Migraine With and Without Aura Roel A. Ophoff, Gisela M. Terwindt, Monique N. Vergouwe, Rune R. Frants and Michel D. Ferrari, on behalf of the Dutch Migraine Genetics Research Group Alteration of Central Excitation Circuits in Chronic Headache and Analgesic Misuse Bruno M. Fusco, Ornella Colantoni and Mario Giacovazzo Photophobia and Phonophobia in Migraineurs Between Attacks Alan Main, Andrew Dowson and Michael Gross The Enhanced Ciliospinal Reflex in Asymptomatic Patients With Cluster Headache is Due to Preganglionic Sympathetic Mechanisms Ulf Havelius, Martin Heuck, Peter Milos and Bengt Hindfelt

82. A New Locus For Migraine Without Aura (MO) Maps On Chromosome 14q aphasic symptoms. The only nosologic entity genetically well characterisedis familial hemiplegic migraine (FHM). For this rare http://sigu.univr.it/sigu/congresso_2002/html_abstract/libro_abs/node11.html

Next: Analisi molecolare e correlazione Up: Previous: Analisi mutazionale dei geni Indice Indice analitico A new locus for migraine without aura (MO) maps on chromosome 14q D. Soragna A. Vettori G. Carraro E. Marchioni G. Vazza S. Bellini R. Tupler F. Savoldi M.L. Mostacciuolo Migraine is a complex, heterogeneous, and disabling neurological disease of unknown origin that shows strong familial aggregation, affecting 18% of females and 6% of males in the general population. The International Headache Society distinguishes between two types of migraine: migraine without aura (MO) and migraine with aura (MA). MA headache attacks occur in up to 30% of patients with migraine and are preceded or accompanied by transient focal neurological symptoms (aura), i. e. reversible visual, sensory, motor and/or aphasic symptoms. The only nosologic entity genetically well characterised is familial hemiplegic migraine (FHM). For this rare kind of autosomal dominant MO migraine 3 loci have been identified: on 19p13, on 1q21-q23 and on 1q31. A recent study identified a locus on 4q24 in which a common form of MA segregates as autosomal dominant trait and significant evidence of linkage was also found in chromosome Xq. We present clinical and molecular data from a large four-generation Italian family in which, migraine without aura (MO) segregates as an autosomal dominant trait. After exclusion of the known loci for autosomal dominant familial hemiplegic migraine and migraine with aura, we performed a genomewide analysis using 428 fluorescent-labelled microsatellite markers. We obtained significant evidence of linkage between the MO phenotype and the marker D14S978 on chromosome 14q22.1 (maximum LOD score of 3.70, at

83. Research Projects interests are myotonias, perdioc paralysis, malignant hyperthermia and associatedmyopathies, benign epeilepsies, episodic ataxias, and hemiplegic migraine. http://physiologie.uni-ulm.de/kjr/project.htm

84. HMMJ ONLINE of migraine. hemiplegic migraineA type of migraine causing temporaryparalysis on one side of the body (hemiplegia); Histamine-A http://www.hmmj.com/glossary.cfm

85. Mission, Research Identification of mutations in disease genes and genotypephenotype correlationFamilial hemiplegic migraine (FHM), an autosomal dominant disorder, is a http://www.spr.it/mission_red_genetics.htm

Genetics and gene therapy Genetics is the focus of many groups at the San Raffaele Institute since the foundation of the DIBIT in 1992. Genetics Quantitative analysis of fetal DNA in maternal plasma in preeclamptic pregnancies, and in microchimerism in female scleroderma patients The presence of fetal DNA in maternal plasma has been explored only recently and data about factors affecting its release and clearance into and from maternal circulation are scarce. Increased fetal DNA levels in maternal plasma were observed in pathological placental conditions associated with hypertension and preeclampsia. The presence of abnormal patterns of fetal DNA before the manifestation of clinical signs can signal the risk of developing these pathologies, allowing us to adopt preventive strategies. We have developed a test that can be used in male-bearing pregnancies. In order to distinguish between maternal and fetal sequences, fetal DNA quantification is carried out through Real-Time Quantitative PCR on the SRY gene. The same assay can be used to detect fetal cells that persist in women long after delivery. The presence of these cells (microchimerism) correlates with the development of scleroderma, an autoimmune disease.

86. Migraine Variants down. Complicated migraine is accompanied by a neurological deficit.Familial hemiplegic migraine is an example of this. Complicated http://www.neuro.nwu.edu/meded/headache/migraine_variants.htm

Return to Neurology Curriculum . Please read our Referal to our headache specialist (at Northwestern in Chicago, IL, USA): About 10% of the population has Migraine. There are many variants, of which the most common are described below. Migraine variant definitions: Fortification spectra, as might be seen in Migraine with aura. Scotoma with aspects of a fortification. Classic migraine : Migraine headache with aura (loss of vision or other visual symptoms, paresthesias, motor dysfunction) precedes the throbbing headache. 15-20% of migraines are classic (Russell and Olesen, 1996). Migraine with aura may be the first sign of CADASIL Common migraine : Migraine headache without aura. About 80% of migraines are of this type (Russell and Olesen, 1996). Vertebrobasilar migraine headache accompanied by dizziness or ataxia, hearing symptoms (other than phonophobia), nausea and vomiting, and sometimes loss of consciousness. This is rather common as about 1/3 of all persons with migraine experience true vertigo. Acephalgic migraine : Aura without headache. This diagnosis is generally made when persons who have headache and aura, also have aura without headache. Acephalgic migraines are generally thought to occur only about 1% of the time, but this is a hard number to pin down.

87. Case Vignettes In Neurology Migraine (familial hemiplegic migraine) Other causes of headache include clusterheadaches, tension headaches, raised intracranial pressure, inflammation of http://medocs.ucdavis.edu/neu/420/cases/cases99/CASE6.HTM

Case Index PATIENT CASE STUDIES Case 6 2/15 Patient Case discussion The mother and sister in addition have a history of recurrent attacks of weakness of the right side of the body involving the face, arm and leg. These episodes of weakness last several hours and are invariably associated with a stereotypical headache. General and neurological examination was normal. Summarize the Case in 1-2 sentences. This is a 28 yr-old female with recurrent, frequent hemicranial throbbing headaches with nausea and a family history of similar headaches with hemiparesis. Headaches are hormonally related and examination is normal. Discuss lesion localization on the basis of the physical examination. 5th cranial nerve, vascular Discuss underlying pathogenesis on the basis of clinical course. Recurrent, episodic suggests vascular; also suggests channelopathy Indicate one likely clinical diagnosis. List (or classify) alternative diagnoses. Migraine (familial hemiplegic migraine) Other causes of headache include cluster headaches, tension headaches, raised intracranial pressure, inflammation of meninges/blood vessels. Cluster headaches occur as unilateral headaches occurring in clusters for example occurring daily for 30 minutes for a period of 6 weeks every year and are associated with tearing of one eye and running nose on the side of the headache Tension headaches occur as nonthrobbing headaches occurring intermittently associated with tightness in muscles (e.g. of neck) without nausea, precipitated by stress, with tenderness (pain on palpation) of muscles.

88. Consiglio Nazionale Delle Ricerche 11.50 Mutational events in familial hemiplegic migraine and permanent cerebellarataxia. 14.30 Gene mutation in familial hemiplegic migraine. http://www.urp.cnr.it/calemani/8set2000.htm

th INTERNATIONAL MONOTHEMATIC SEMINAR OF THE ITALIAN SOCIETY FOR THE STUDY OF HEADACHES GENETICS OF HEADACHES 8 September, Aula Convegni del Consiglio Nazionale delle Ricerche Rome, Piazza Aldo Moro, 7 Under the Patronage of Italian Socicty of Internal Medicine National Council of Rescarches CNR SISC Study Group on "Genetics of Headaches" CHAIRMAN Mario Giacovazzo (Rome, I) SCIENTIFIC COMMITTEE Maria Del Zompo (Cagliari, I) Charalambos P. Kyriacou (Leicester, UK) Paolo Martelletti (Roma, I) Pasquale Montagna (Bologna, I) Simonetta Trabace (Roma, I) ORGANIZING COMMITEE Paolo Martelletti, Chairman (Rome, I) Mara Favilla (Bari I) Giuseppe Stirparo (Rome, I) Alessandra Zicari (Rome, I) Stefania Morrone (Rome, I) Dipartimento di Medicina Clinica Via del Policlinico, 155 00161 Roma Tel/fax: 064453983 Email: martelletti@uniroma1.it PRELIMINARY PROGRAM Session I Chairmen: M. Giacovazzo (Roma, I), V- Gallai (Perugia, I) Session II Chairmen: P. Martelletti (Rome), C.P. Kyriacou (Leicester) Session III Chairmen: P. Montagna (Bologna), M.B. Russell (Copenhagen) Submission of abstracts Abstracts for oral communication or poster presentation should be typed (charaeter size 11, interline 1) and registered on PC diskette (Word/Mac or Word/Windows). One hard copy togheter with the diskette must be received by the Organising Secretariat no later that 1

89. Medpoint, Das Schweizer Gesundheitsportal Für Health in primary care Haploinsufficiency of ATP1A2 encoding the Na(+)/K(+) pump alpha2subunit associated with familial hemiplegic migraine type 2 AngiotensinII http://www.medpoint.ch/subportals/Migraene.asp

90. Spring: RECENT PROGRESS IN DOMINANT ATAXIA RESEARCH both of which have episodic manifestations; familial hemiplegic migraine,. threeallelic diseases differ. Familial hemiplegic migraine is caused by a. http://www.ataxia.org/generations/1998/1998spring/spring1.html

RECENT PROGRESS IN DOMINANT ATAXIA RESEARCH By Dr. Ewout Brunt Groningen, Netherlands In this presentation, I will summarize existing data on dominant ataxia: I will highlight last years contribution in spinocerebellar ataxia (SCA) research before mentioning our own studies in the University of Groningen. Dominant ataxia differs from Friedreich's ataxia in that, whereas in FA too little frataxin causes a loss of function, the dominant inherited ataxias or SCA's are supposed to be caused by a gain of function. Of every gene, two copies are present. In dominant ataxia only one gene is changed, has a mutation, while the other gene is normal. Therefore, in SCA, two different products of the same gene are expressed in the body. Until now, all dominant ataxias share the same type of mutation; an abnormal expansion of a CAG-trinucleotide repeat in the coding region of the gene. The letters CAG stand for 'cytosine', 'adenine' and 'guanine', indicating the nucleic acid elements that make up the DNA strand. One copy of CAG in the DNA produces one building stone, i.e. one glutamine amino-acid, of a protein.

91. FIRST-LINE ABORTIVE MIGRAINE MEDICATION: ADDENDUM that is not well controlled; 2. past history of a stroke; 3. history of heartdisease; 4. circulatory problems; and 5. basilar or hemiplegic migraine. http://www.headachedrugs.com/archives/abortive_addendum.html

Home About Dr. Robbins Archived Articles Headache Books ... Back to List Title: Author: Date: Source: First-Line Abortive Migraine Medication: Addendum Lawrence Robbins, M.D. Posted July 2002 FROVATRIPTAN (FROVA) Frova was released in the United States in June, 2002. Frova is very well tolerated. The long (26 hours) half-life is advantageous for those with prolonged migraines. Mean maximal blood concentrations are seen approximately 2 to 4 hours after a dose of Frova. Frova has been particularly useful for those with slower-onset moderate or moderate to severe migraines. Who Should Use Frova? Frova is most useful for migraines that are of slower-onset; if one awakens with a very severe migraine with severe nausea, Frova may not be the optimal choice. It is common for migraineurs to experience prolonged moderate or moderate to severe migraines. Menstrual migraines are often of long duration. Frova, with it’s extended duration of action, is an ideal triptan for these patients. As with any migraine abortive, early intervention with the medication is best. Frova is an outstanding first-line choice as a migraine abortive medication. Who Should Not Use Frova?

92. Dna Variation & Function: Dhplc Publication List Sorted By Categories::mutationa (1996) Familial hemiplegic migraine and episodic ataxia type2 are causedby mutations in the Ca2+ channel gene CACNL1A4. Cell 87(3)543-552. http://insertion.stanford.edu/pub_candidate_genes.html

Home Back DHPLC Publication List (sorted by categories) The DHPLC publication list is also available sorted by publication year The Method Single Nucleotide Extension Sequencing and DHPLC Sensitivity and Specificity DNA/RNA Purification Mutational Analysis of Candidate Genes Mass Spectrometry and DHPLC Quantitation of Gene Expression by DHPLC ... DNA Methylation Analysis The references below are hyper-linked to their abstract via PubMed or, whenever possible, directly to the journal. (Access to journals may require membership or subscription). Please, forward new citations for inclusion in this list to oefner#genome.stanford.edu Mutational Analysis of Candidate Genes Ophoff, R.A., Terwindt, G.M., Vergouwe, M.N., et al. (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87(3):543-552. (1997) Founding BRCA1 and 2 mutations in Austrian HBOC families and individuals of the 5 continents. Am. J. Hum. Genet. 61 [Suppl.]:A86.

93. Health Report - 12/1/1997: Genes And Migraines We call it familial hemiplegic migraine. So like all other migraines youhave the headache but on top of that you have the onesided paresis. http://www.abc.net.au/rn/talks/8.30/helthrpt/stories/s360.htm

Health Matters All in the Mind The Buzz Earthbeat ... Quantum Genes and Migraines Broadcast Monday 1 December 1997 with Summary: A research team in the Netherlands has discovered a genetic defect associated with migraine in some people with a very severe form of these disabling headaches Transcript: Norman Swan: A research team in The Netherlands has discovered a genetic defect associated with migraine in some people with a very severe form of these disabling headaches. The finding could offer a new avenue to better anti migraine drugs. Here's The Health Report's correspondent in the Low Countries, Ann Blair-Gould. Ann Blair-Gould: Between 10% and 12% of the population of most countries suffers from migraines, and the statistics show that it tends to occur in families although migraines are not inherited in the simple predictable manner; and that it occurs much more often in women, about 2-and-a-half-times more often than in men. So when I recently read that scientists at Leiden University here in The Netherlands had come up with a new model of how we think migraines come about, I went off to see what I could find out. I spoke there to Professor Rune Frants, who is originally from Finland, and who is head of the Department of Human Genetics at Leiden. I asked him first what we've known about what causes migraines up till now. Rune Frants: Biochemically, something with serotonin.

94. Teenagers As I began fifth year the pressure of stress and study further aggravatedmy first attack of hemiplegic migraine. I lost power and http://www.migraine.ie/teen.html

Una O'Connor, who successfully studied for her Leaving Cert last year recounts her experiences and offers tips to all students with migraine on how to get through a stressful year. My headaches began when I was 13 years old. At first they were few and far between but by the time I was in my Junior Cert year, they became worse and more frequent. I went to my doctor and was diagnosed with migraine. The biggest problem was long hours of study, sitting over a desk resulting in neck strain and the stress of school and exams. I then chose to do transition year and decided to stop my medication, as this year would be stress free. I was disappointed to find my migraine attacks continued. During this year I tried many alternative treatments, which included acupuncture, allergy testing, specialised diets and relaxation therapy all of which were unhelpful. I found that cranial sacral therapy was the only alternative treatment that provided pain relief. As I began fifth year the pressure of stress and study further aggravated my first attack of hemiplegic migraine.

95. BioSpace News: Migraine (See Story from Red Herring) (2/6/03); Verapamil May Prevent, Abort Sporadic HemiplegicMigraine NEW YORK (Reuters Health) Findings from a small case series http://www.biospace.com/ccis/news_rxtarget.cfm?RXTargetID=149

96. Doctor's Guide- Global Edition migraine, Channel of the Week, http://www.docguide.com/

97. JAX®Mice Database - Mouse/Human Gene Homologs: Migraine, Familial Hemiplegic; W JAX®MICE Database Mouse/Human Gene Homologs migraine, familialhemiplegic; with progressive cerebellar ataxia List. http://jaxmice.jax.org/jaxmicedb/html/model_1020.shtml

Mice Orders Services Strain Information Research Models ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: migraine, familial hemiplegic; with progressive cerebellar ataxia" Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply B6.Cg- Os tg-la Level 4: Up to 3 breeder pairs or 6 individual mice per order total; 1 order at a time. Expected delivery for most strains is 1 to 3 months. Call to inquire about ordering greater quantities. tg Level 4: Up to 3 breeder pairs or 6 individual mice per order total; 1 order at a time. Expected delivery for most strains is 1 to 3 months. Call to inquire about ordering greater quantities. (2 stocks) Back to Top Research Research Resources Mouse Genome Informatics ... The Jackson Laboratory

98. 1433 Genetic Studies On Finnish Families With Familial Program Nr 1433 Genetic studies on Finnish families with familial hemiplegicmigraine. M. Kaunisto 1,2 , M. Kallela 1 , P. Marttila http://www.faseb.org/genetics/ashg99/f1433.htm

99. Genetik Der Migräne - DMKG http://www.dmkg.org/archb/genetik.htm

Autoren Zusammenfassung Klassische Genetik Familienstudien Zwillingsstudien Molekulare Genetik Untersuchung von Kandidaten-Genen Assoziation mit anderen erblichen Erkrankungen Kopplungsanalysen Mutationen in einem Calcium-Kanal-Gen bei FHM Literatur Russell MB, Iselius L, Olesen J. Migraine without aura and migraine with aura are inherited disorders. Cephalalgia 1996;16:305-309 Haan J, Terwindt GM, Ferrari MD. Genetics of Migraine. Neurologic Clinics 1997;15:43-60 Ottman R, Lipton RB. Comorbidity of migraine and epilepsy. Neurology 1994;44:2105-2110 Klopstock T, May A, Seibel P, Papagiannuli E, Diener HC, Reichmann H. Mitochondrial DNA in migraine with aura. Neurology 1996;46:1735-1738 Tournier-Lasserve E, Joutel A, Melki J, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukencephalopathy maps to chromosome 19q12. Nature Genetics 1993;3:256-259 Joutel A, Bousser MG, Biousse V, et al. A gene for familial hemiplegic migraine maps to chromosome 19. Nature Genetics 1993;5:40-45 Ophoff RA, Terwindt GM, Vergouwe MN, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 1996;87:543-552

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