Journal articles: 'Familial hemiplegic migraine type-1'

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Schubert, Victoria, Eva Auffenberg, Saskia Biskup, Karin Jurkat-Rott, and Tobias Freilinger. "Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L." Cephalalgia 38, no. 8 (November 16, 2017): 1503–8. http://dx.doi.org/10.1177/0333102417742365.

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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. Results In both pedigrees, we identified SCN1A mutation p.F1499L, which has been previously associated with familial hemiplegic migraine type 3 and elicited repetitive daily blindness. Both families displayed a pure familial hemiplegic migraine phenotype without evidence of an episodic eye phenotype. Conclusion Like a substantial proportion of other familial hemiplegic migraine type 3 mutations, p.F1499L affects the intracellular linker between domains III and IV of SCN1A, which seems to be a mutational hot-spot. Our new data establish p.F1499L as a recurrent familial hemiplegic migraine type 3 mutation. Elicited repetitive daily blindness seems to be a rare phenomenon in familial hemiplegic migraine type 3, even in carriers of the same mutation.

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Hansen, JM, LL Thomsen, J. Olesen, and M. Ashina. "Familial Hemiplegic Migraine Type 1 Shows no Hypersensitivity to Nitric Oxide." Cephalalgia 28, no. 5 (May 2008): 496–505. http://dx.doi.org/10.1111/j.1468-2982.2008.01559.x.

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Familial hemiplegic migraine type 1 (FHM-1) is a dominantly inherited subtype of migraine with aura and transient hemiplegia associated with mutations in the CACNA1A gene. FHM-1 shares many phenotypical similarities with common types of migraine, indicating common neurobiological pathways. Experimental studies have established that activation of the nitric oxide-cyclic guanosine monophosphate (NO-cGMP) pathway plays a crucial role in migraine pathophysiology. Therefore, we tested the hypothesis that CACNA1A mutations in patients with FHM-1 are associated with hypersensitivity to NO-cGMP pathway. We included eight FHM-1 patients with R583Q and C1369Y mutations and nine healthy controls, who received intravenous infusions of 0.5 μg kg−1 min−1 glyceryl trinitrate (GTN) over 20 min. We recorded: headache intensity on a verbal rating scale; mean flow velocity in the middle cerebral artery (VmeanMCA) by transcranial Doppler; diameter of the superficial temporal artery (STA) by Dermascan. One patient reported migraine without aura 5 h after start of the GTN infusion. No aura was reported. The AUCheadache in the immediate phase was more pronounced in patients than in controls ( P = 0.01). In the 14 h following GTN infusion, there was no difference in the AUCheadache between patients and controls ( P = 0.17). We found no difference in the AUCVmeanMCA ( P = 0.12) or AUCSTA ( P = 0.71) between FHM-1 patients and controls. None of the control persons reported migraine-like headache. FHM-1 patients do not show hypersensitivity of the NO-cGMP pathway, as characteristically seen in migraine patients with and without aura. This indicates that the pathophysiological pathways underlying migraine headache in FHM-1 may be different from the common types of migraine.

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Geerlings, Rianne PJ, Peter J. Koehler, Danielle YP Haane, Anine H. Stam, Boukje de Vries, Elles MJ Boon, and Joost Haan. "Head tremor related to CACNA1A mutations." Cephalalgia 31, no. 12 (July 18, 2011): 1315–19. http://dx.doi.org/10.1177/0333102411414442.

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Introduction: Familial hemiplegic migraine (FHM) is characterized by the familial occurrence of migraine attacks with fully reversible transient hemiplegia. Mutations in three different genes have been identified; CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). Besides hemiplegia, several other symptoms have been described in FHM 1–3 mutation carriers, including epilepsy and cerebellar symptoms. Case report: We describe two patients in whom hemiplegic attacks were not the presenting symptom, but in whom an otherwise unexplained head tremor led us to search for FHM mutations. Both patients carried a mutation in the CACNA1A gene. Discussion: CACNA1A mutations can give significant symptoms other than (hemiplegic) migraine as reason for presentation.

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Thomsen, Lise L., Elsebet Ostergaard, Jes Olesen, and Michael B. Russell. "Evidence for a separate type of migraine with aura." Neurology 60, no. 4 (February 25, 2003): 595–601. http://dx.doi.org/10.1212/01.wnl.0000046524.25369.7d.

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Objective: To compare clinical characteristics of patients with sporadic hemiplegic migraine (SHM) with those of patients with migraine with typical aura (MA) and patients with familial hemiplegic migraine (FHM).Methods: The authors used a computer search of Denmark’s National Patient Register to screen the population for patients with migraine with aura with motor weakness, and also examined case records from headache clinics and private practicing neurologists and placed advertisements. The authors screened patients and their relatives with a semi-structured validated telephone interview. All recruited patients were then interviewed by a physician and given a neurologic examination.Results: A total of 105 patients with SHM were identified. Seventy-two percent had four typical aura symptoms: visual, sensory, aphasic, and motor. All had at least two symptoms present during SHM attacks. A gradual progression and sequential appearance of aura symptoms was typical; compared with MA, the duration of each aura symptom was usually prolonged and bilateral motor symptoms were more frequent. Of the patients with SHM, 72% fulfilled the criteria for basilar migraine during SHM attacks. The aura was usually followed by headache, as is common in FHM but not MA.Conclusions: Patients with sporadic hemiplegic migraine had clinical symptoms identical to familial hemiplegic migraine and significantly different from migraine with typical aura. Sporadic hemiplegic migraine is a separate entity, and should be classified with familial hemiplegic migraine.

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Vries, Boukje de, Else Eising, Ludo AM Broos, Stephany C. Koelewijn, Boyan Todorov, Rune R. Frants, Judith M. Boer, Michel D. Ferrari, Peter AC ‘t Hoen, and Arn MJM van den Maagdenberg. "RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice." Cephalalgia 34, no. 3 (August 28, 2013): 174–82. http://dx.doi.org/10.1177/0333102413502736.

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Background Various CACNA1A missense mutations cause familial hemiplegic migraine type 1 (FHM1), a rare monogenic subtype of migraine with aura. FHM1 mutation R192Q is associated with pure hemiplegic migraine, whereas the S218L mutation causes hemiplegic migraine, cerebellar ataxia, seizures, and mild head trauma-induced brain edema. Transgenic knock-in (KI) migraine mouse models were generated that carried either the FHM1 R192Q or the S218L mutation and were shown to exhibit increased CaV2.1 channel activity. Here we investigated their cerebellar and caudal cortical transcriptome. Methods Caudal cortical and cerebellar RNA expression profiles from mutant and wild-type mice were studied using microarrays. Respective brain regions were selected based on their relevance to migraine aura and ataxia. Relevant expression changes were further investigated at RNA and protein level by quantitative polymerase chain reaction (qPCR) and/or immunohistochemistry, respectively. Results Expression differences in the cerebellum were most pronounced in S218L mice. Particularly, tyrosine hydroxylase, a marker of delayed cerebellar maturation, appeared strongly upregulated in S218L cerebella. In contrast, only minimal expression differences were observed in the caudal cortex of either mutant mice strain. Conclusion Despite pronounced consequences of migraine gene mutations at the neurobiological level, changes in cortical RNA expression in FHM1 migraine mice compared to wild-type are modest. In contrast, pronounced RNA expression changes are seen in the cerebellum of S218L mice and may explain their cerebellar ataxia phenotype.

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Roth, Christian, Tobias Freilinger, Georgi Kirovski, Juliane Dunkel, Yogesh Shah, Bernd Wilken, Bernd Rautenstrauß, and Andreas Ferbert. "Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene." Cephalalgia 34, no. 3 (October 4, 2013): 183–90. http://dx.doi.org/10.1177/0333102413506128.

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Introduction Familial hemiplegic migraine (FHM) is a rare subtype of migraine with transient hemiplegic aura. Patients and methods We describe three unrelated families with familial hemiplegic migraine type II (FHM2). Retrospectively, information on 47 family members could be obtained, 15 by personal examination and 32 by indirect anamnesis from relatives. Genetic analyses were performed in 13 patients. Results One family had a novel missense mutation in the ATP1A2 gene (c.659C>T, p.Ser220Leu) that segregated with the phenotype in three generations. Two further unrelated families with different ethnic backgrounds (one from Germany and one from Russia) had a missense mutation that has not been described as yet in FHM, but occurred in only a single patient with sporadic hemiplegic migraine (c.2723G>A, p.Arg908Gln). Clinically the patients had severe attacks lasting up to several weeks as well as epileptic seizures. Three patients with a proven mutation in the ATP1A2 gene clinically presented without hemiparesis. Furthermore, there was a possible relation of FHM2 to mental retardation in another two patients. Conclusion Clinical symptoms may last for several weeks in some patients. Patients with FHM2 may also present without hemiplegia. Therefore, the full family history has to be taken into account to establish the diagnosis of FHM.

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Podestà, Barbara, Eleonora Briatore, Andrea Boghi, Daniela Marenco, and Stefano Calzolari. "Transient nonverbal learning disorder in a child suffering from Familial Hemiplegic Migraine." Cephalalgia 31, no. 14 (September 9, 2011): 1497–502. http://dx.doi.org/10.1177/0333102411418260.

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Objective: To study the link between nonverbal learning disorder and right cerebral hemisphere dysfunction due to migraine attack in a case of Familial Hemiplegic Migraine. Background: Familial Hemiplegic Migraine can cause neuropsychological deficits besides the motor ones. The nonverbal learning disorder is thought to be caused by a right hemisphere dysfunction. Methods: We describe a child with Familial Hemiplegic Migraine type 2 who showed a transient neuropsychological impairment featuring a nonverbal learning disorder during and after a Hemiplegic migraine attack. Results: Clinical and neuropsychological data showed a nonverbal learning disorder. A mutation in the ATP1A2 gene on chromosome 1q23 was found. Symptoms of nonverbal learning disorder outlasted the left hemiparesis. Two months later he showed a full recovery. Neurophysiological and neuroradiological evaluations were congruent with clinical course and with right hemisphere involvement. Conclusion: The link between nonverbal learning disorder and right cerebral hemisphere dysfunction due to migraine attack is confirmed. Familial Hemiplegic Migraine can cause transient complex neuropsychological syndromes that can be overlooked if not appropriately investigated.

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Bruun, Marie, Lena Elisabeth Hjermind, Carsten Thomsen, Else Danielsen, Lise Lykke Thomsen, Lars Hageman Pinborg, Nastaran Khabbazbavani, and Joergen Erik Nielsen. "Familial Hemiplegic Migraine Type 1 Associated with Parkinsonism: A Case Report." Case Reports in Neurology 7, no. 1 (April 14, 2015): 84–89. http://dx.doi.org/10.1159/000381827.

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Familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) are allelic disorders caused by mutations in the CACNA1A gene on chromosome 19p13. It is well described that FHM1 can present with cerebellar signs, but parkinsonism has not previously been reported in FHM1 or EA2 even though parkinsonism has been described in SCA6. We report a 63-year-old woman with FHM1 caused by an R583Q mutation in the CACNA1A gene, clinically presenting with migraine and permanent cerebellar ataxia. Since the age of 60 years, the patient also developed parkinsonism with rigidity, bradykinesia and a resting tremor. An MRI showed a normal substantia nigra, but a bilateral loss of substance in the basal ganglia, which is in contrast to the typically normal MRI in idiopathic Parkinson's disease. Dopamine transporter (DAT) imaging with single-photon emission computed tomography demonstrated a decreased DAT-binding potential in the putamen. We wish to draw attention to FHM1 associated with parkinsonism; however, whether the reported case is a consequence of FHM1 being allelic to SCA6, unknown modifiers to the specific R583Q CACNA1A mutation or idiopathic Parkinson's disease remains unanswered.

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McNAMARA, DAMIAN. "Triggers Similar in Familial Hemiplegic Migraine." Clinical Psychiatry News 39, no. 9 (September 2011): 21. http://dx.doi.org/10.1016/s0270-6644(11)70355-1.

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Martínez, E., R. Moreno, L. López-Mesonero, I. Vidriales, M. Ruiz, A. L. Guerrero, and J. J. Tellería. "Familial Hemiplegic Migraine with Severe Attacks: A New Report withATP1A2Mutation." Case Reports in Neurological Medicine 2016 (2016): 1–5. http://dx.doi.org/10.1155/2016/3464285.

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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. She presented with fever, decreased consciousness, left gaze preference, mixed aphasia, right facial palsy, right hemiplegia, and left crural paresis. Computed tomography (CT) showed no lesion and CT perfusion study evidenced oligohemia in left hemisphere. A normal brain magnetic resonance (MR) was obtained. Impaired consciousness and dysphasia began to improve three days after admission and mild dysphasia and right hemiparesis lasted for 10 days. No recurrences were reported during a follow-up of two years. We identified a variant in heterozygous state in ATP1A2 gene (p.Thr364Met), pathogenic according to different prediction algorithms (SIFT, PolyPhen2, MutationTaster, and Condel).Conclusion. Prolonged and severe attacks with diffuse hypoperfusion in a FHM seemed to be specially related to ATP1A2 mutations, and p.T364M should be considered.

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Tang, Wenjing, Meichen Zhang, Enchao Qiu, Shanshan Kong, Yingji Li, Huanxian Liu, Zhao Dong, and Shengyuan Yu. "A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2." Cephalalgia 39, no. 11 (May 3, 2019): 1382–95. http://dx.doi.org/10.1177/0333102419847738.

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Background ATP1A2 has been identified as the genetic cause of familial hemiplegic migraine type 2. Over 80 ATP1A2 mutations have been reported, but no data from Chinese family studies has been included. Here, we report the first familial hemiplegic migraine type 2 Chinese family with a novel missense mutation. Methods Clinical manifestations in the family were recorded. Blood samples from patients and the unaffected members were collected for whole-exome sequencing to identify the pathogenic mutation. Seven online softwares (SIFT, PolyPhen-2, PROVEAN, PANTHER, MutationTaster2, MutationAssessor and PMut) were used for predicting the pathogenic potential of the mutation. PredictProtein, Jpred 4 and PyMOL were used to analyze structural changes of the protein. The mutation function was further tested by Methylthiazolyldiphenyl-tetrazolium bromide (MTT) assay. Results All patients in the family had typical hemiplegic migraine attacks. Co-segregation of the mutation with the migraine phenotype in four generations, with 10 patients, was completed. The identified novel mutation, G762S in ATP1A2, exhibited the disease-causing feature by all the predictive softwares. The mutation impaired the local structure of the protein and decreased cell viability. Conclusion G762S in ATP1A2 is a novel pathogenic mutation identified in a Chinese family with familial hemiplegic migraine, which causes loss of function by changing the protein structure of the Na+/K+-ATPase α2 subunit.

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Liu, Changyue, and Wei Yue. "The ATP1A2 Mutation Associated with Hemiplegic Migraines: Case Report and Literature Review." Clinical and Translational Neuroscience 6, no. 4 (November 23, 2022): 25. http://dx.doi.org/10.3390/ctn6040025.

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Familial hemiplegic migraine type 2 is a premonitory subtype of migraine caused by an ATP1A2 gene mutation. It is an autosomal dominant genetic disease. Here, we report a 51-year-old woman who had a migraine attack due to a pathogenic ATP1A2 gene mutation. With frequent attacks, the patient developed complete left hemiplegia, a confusion of consciousness and partial seizures. Magnetic resonance imaging showed extensive angiogenic edema in the right cerebral hemisphere. In this article, we review the latest literature and try to explain the above symptoms in our patient with cortical spreading depression (CSD) and ATP1A2 gene mutations.

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Eikermann-Haerter, K., I. Yuzawa, T. Qin, Y. Wang, K. Baek, Y. R. Kim, U. Hoffmann, et al. "Enhanced Subcortical Spreading Depression in Familial Hemiplegic Migraine Type 1 Mutant Mice." Journal of Neuroscience 31, no. 15 (April 13, 2011): 5755–63. http://dx.doi.org/10.1523/jneurosci.5346-10.2011.

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Zhang, Yang, Ning Chen, Muke Zhou, Jian Guo, Jiang Guo, and Li He. "A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report." Cephalalgia 37, no. 13 (November 12, 2016): 1294–98. http://dx.doi.org/10.1177/0333102416677049.

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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. Results All FHM patients in the investigated family have typical hemiplegic migraine attacks characteristic of FHM. We identified a novel mutation (p.Leu1670Trp) of the SCN1A gene. The affected amino acid is highly conserved across different species and therefore likely plays an important role in SCN1A gene function. Conclusion The identification of a novel mutation in the SCN1A gene in the Chinese population may further aid in the understanding of FHM genetics.

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Loonen, Inge C. M., Isabelle Kohler, Mohan Ghorasaini, Martin Giera, Arn M. J. M. van den Maagdenberg, Oleg A. Mayboroda, and Else A. Tolner. "Changes in Plasma Lipid Levels Following Cortical Spreading Depolarization in a Transgenic Mouse Model of Familial Hemiplegic Migraine." Metabolites 12, no. 3 (March 1, 2022): 220. http://dx.doi.org/10.3390/metabo12030220.

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Metabolite levels in peripheral body fluids can correlate with attack features in migraine patients, which underscores the potential of plasma metabolites as possible disease biomarkers. Migraine headache can be preceded by an aura that is caused by cortical spreading depolarization (CSD), a transient wave of neuroglial depolarization. We previously identified plasma amino acid changes after CSD in familial hemiplegic migraine type 1 (FHM1) mutant mice that exhibit increased neuronal excitability and various migraine-related features. Here, we aimed to uncover lipid metabolic pathways affected by CSD, guided by findings on the involvement of lipids in hemiplegic migraine pathophysiology. Using targeted lipidomic analysis, we studied plasma lipid metabolite levels at different time points after CSD in wild-type and FHM1 mutant mice. Following CSD, the most prominent plasma lipid change concerned a transient increase in PGD2, which lasted longer in mutant mice. In wild-type mice only, levels of anti-inflammatory lipid mediators DPAn-3, EPA, ALA, and DHA were elevated 24 h following CSD compared to Sham-treated animals. Given the role of PGs and neuroinflammation in migraine pathophysiology, our findings underscore the potential of monitoring peripheral changes in lipids to gain insight in central brain mechanisms.

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Uchitel, Osvaldo D., Carlota González Inchauspe, and Mariano N. Di Guilmi. "Calcium channels and synaptic transmission in familial hemiplegic migraine type 1 animal models." Biophysical Reviews 6, no. 1 (December 3, 2013): 15–26. http://dx.doi.org/10.1007/s12551-013-0126-y.

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Eikermann-Haerter, Katharina, Michael J. Baum, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Michael A. Moskowitz, and Cenk Ayata. "Androgenic suppression of spreading depression in familial hemiplegic migraine type 1 mutant mice." Annals of Neurology 66, no. 4 (October 2009): 564–68. http://dx.doi.org/10.1002/ana.21779.

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Pelzer, Nadine, 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, and Gisela M. Terwindt. "Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation." Neurology 90, no. 7 (January 17, 2018): e575-e582. http://dx.doi.org/10.1212/wnl.0000000000004966.

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ObjectiveTo 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.MethodsWe 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. In addition, 47 patients (familial: n = 33; sporadic: n = 14) without mutations in CACNA1A, ATP1A2, or SCN1A were scanned for mutations in novel genes using whole exome sequencing.ResultsPatients with mutations in CACNA1A, ATP1A2, or SCN1A had a lower age at disease onset, larger numbers of affected family members, and more often attacks (1) triggered by mild head trauma, (2) with extensive motor weakness, and (3) with brainstem features, confusion, and brain edema. Mental retardation and progressive ataxia were exclusively found in patients with a mutation. Whole exome sequencing failed to identify pathogenic mutations in new genes.ConclusionsMost patients with hemiplegic migraine without a mutation in CACNA1A, ATP1A2, or SCN1A display a mild phenotype that is more akin to that of common (nonhemiplegic) migraine. A major fourth autosomal dominant gene for hemiplegic migraine remains to be identified. Our observations might guide physicians in selecting patients for mutation screening and in providing adequate genetic counseling.

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Barrett, Curtis F., Yu-Qing Cao, and Richard W. Tsien. "Gating Deficiency in a Familial Hemiplegic Migraine Type 1 Mutant P/Q-type Calcium Channel." Journal of Biological Chemistry 280, no. 25 (March 28, 2005): 24064–71. http://dx.doi.org/10.1074/jbc.m502223200.

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Barros, José, Alexandre Mendes, Ilda Matos, and José Pereira-Monteiro. "Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2)." Journal of Headache and Pain 13, no. 7 (June 5, 2012): 581–85. http://dx.doi.org/10.1007/s10194-012-0462-5.

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Fusco, M. De, R. Marconi, L. Silvestri, L. Atorino, L. Rampoldi, L. Morgante, A. Ballabio, P. Aridon, and G. Casari. "Haploinsufficiency of АТР1А2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2 (Nat. Genet. — 2003. — FEB. — 33(2). — P. 192—196: англ.)." Neurology Bulletin XXXV, no. 1-2 (April 20, 2003): 79–80. http://dx.doi.org/10.17816/nb89682.

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The prevalence of migraine in Western countries shows 12% of the entire population. One of the hereditary forms of the disease is familial hemiplegic migraine of the second type, which clinically manifests an aura, paroxysm of headache and the development of transient hemiparesis during an attack.

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Iizuka, T., N. Tominaga, J. Kaneko, M. Sato, T. Akutsu, J. Hamada, F. Sakai, and K. Nishiyama. "Biphasic neurovascular changes in prolonged migraine aura in familial hemiplegic migraine type 2." Journal of Neurology, Neurosurgery & Psychiatry 86, no. 3 (June 30, 2014): 344–53. http://dx.doi.org/10.1136/jnnp-2014-307731.

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Hansen, JM, LL Thomsen, R. Marconi, G. Casari, J. Olesen, and M. Ashina. "Familial Hemiplegic Migraine Type 2 does not Share Hypersensitivity to Nitric Oxide with Common Types of Migraine." Cephalalgia 28, no. 4 (April 2008): 367–75. http://dx.doi.org/10.1111/j.1468-2982.2008.01542.x.

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Familial hemiplegic migraine type 2 (FHM-2) and common types of migraine show phenotypic similarities which may indicate a common neurobiological background. The nitric oxide-cyclic guanosine monophosphate (NO-cGMP) pathway plays a crucial role in migraine pathophysiology. Therefore, we tested the hypothesis that ATP1A2 mutations in patients with FHM-2 are associated with hypersensitivity to NO-cGMP pathway. Eight FHM-2 patients with R202Q, R763C, V138A and L764P mutations and nine healthy controls received intravenous infusions of 0.5 μgkg−1 min−1 glyceryl trinitrate (GTN) over 20 min. We recorded the following variables: headache intensity on a verbal rating scale; mean flow velocity in the middle cerebral artery (VmeanMCA) by transcranial Doppler; diameter of the superficial temporal artery (STA) by ultrasound. The primary end-points were differences in incidence of migraine headache and area under the curve (AUC) for headache score during an immediate phase (0-120 min) and a delayed phase (2-14 h) after start of infusion. We found no difference in the incidence of reported migraine between FHM-2 patients, 25% (two out of eight), and controls, 0% (0 out of nine) (95% confidence interval −0.06, 0.56) ( P = 0.21). The AUCheadache in the immediate ( P = 0.37) and delayed ( P = 0.09) phase was not different between patients and controls. The GTN infusion resulted in a biphasic response in patients. During the immediate phase, the median peak headache occurred at 30 min and tended to be higher in patients, 1 (0, 3.8), than in controls, 0 (0, 1) ( P = 0.056). During the delayed phase, the median peak headache occurred 4 h after the start of the infusion and was significantly higher in patients, 2.5 (0, 3), than in controls, 0 (0, 0) ( P = 0.046). We found no difference in the AUCVmeanMCA ( P = 0.77) or AUCSTA ( P = 0.53) between FHM-2 patients and controls. GTN infusion failed to induce more migraine in FHM-2 patients than in controls. The pathophysiological pathways underlying migraine headache in FHM-2 may be different from the common types of migraine.

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Tashiro, Yuichi, Tsuneo Yamazaki, Shun Nagamine, Yuji Mizuno, Adachi Yoshiki, and Koichi Okamoto. "Repeated Encephalopathy and Hemicerebral Atrophy in a Patient with Familial Hemiplegic Migraine Type 1." Internal Medicine 53, no. 19 (2014): 2245–50. http://dx.doi.org/10.2169/internalmedicine.53.0295.

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Dichgans, M., J. Herzog, T. Freilinger, M. Wilke, and D. P. Auer. "1H-MRS alterations in the cerebellum of patients with familial hemiplegic migraine type 1." Neurology 64, no. 4 (February 22, 2005): 608–13. http://dx.doi.org/10.1212/01.wnl.0000151855.98318.50.

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Thomsen, L. Lykke, M. Kirchmann Eriksen, S. Faerch Romer, I. Andersen, E. Ostergaard, N. Keiding, J. Olesen, and MB Russell. "An Epidemiological Survey of Hemiplegic Migraine." Cephalalgia 22, no. 5 (June 2002): 361–75. http://dx.doi.org/10.1046/j.1468-2982.2002.00371.x.

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The objective of the present study was to use systematic nation-wide case-finding methods to establish the prevalence and sex ratio of hemiplegic migraine (HM) in the entire Danish population of 5.2 million inhabitants. Affected patients were identified from three different recruitment sources: the National Patient Register, case records from private practising neurologists and advertisements. Based on the observed number of affected patients from each case-finding method, it was attempted to estimate the total number of affected patients by means of the statistical method known as capture- recapture. Two hundred and ninety-one affected patients were identified; 147 were familial HM from 44 different families, 105 were sporadic HM and 39 were unclassifiable HM. The HM sex ratio (M: F) was 1: 3. Based on the identified number of affected patients the prevalence of HM at the end of 1999 was estimated to be 0.01% in Denmark, where the familial and sporadic form were equally frequent.

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Pelzer, Nadine, Anine H. Stam, Johannes A. Carpay, Boukje de Vries, Arn MJM van den Maagdenberg, Michel D. Ferrari, Joost Haan, and Gisela M. Terwindt. "Familial hemiplegic migraine treated by sodium valproate and lamotrigine." Cephalalgia 34, no. 9 (January 17, 2014): 708–11. http://dx.doi.org/10.1177/0333102413520086.

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Background Familial hemiplegic migraine (FHM) is a rare monogenic subtype of migraine with aura that includes motor auras. Prophylactic treatment of FHM often has marginal effects and involves a trial-and-error strategy based on therapeutic guidelines for non-hemiplegic migraine and on case reports in FHM. Methods We assessed the response to prophylactic medication in an FHM family and sequenced the FHM2 ATP1A2 gene in all available relatives. Results A novel p.Met731Val ATP1A2 mutation was identified. Attack frequency was reduced significantly with sodium valproate monotherapy ( n = 1) and attacks ceased completely with a combination of sodium valproate and lamotrigine ( n = 2). Conclusions We report dramatic prophylactic effects of sodium valproate and lamotrigine in an FHM2 family, making these drugs worth considering in the treatment of other FHM patients.

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Karsan, Nazia, David Palethorpe, Ria Bhola, and Juana Marin, Peter Goadsby. "FLUNARIZINE IN PRIMARY HEADACHE DISORDERS." Journal of Neurology, Neurosurgery & Psychiatry 86, no. 11 (October 14, 2015): e4.174-e4. http://dx.doi.org/10.1136/jnnp-2015-312379.80.

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BackgroundFlunarizine is a widely used migraine preventive not licensed in the UK. In September 2014, the National Institute for Clinical Excellence (NICE) published supportive guidelines for flunarizine use in migraine based on available randomised controlled evidence.AimTo collect data for an audit of flunarizine use from our tertiary headache practice in the UK over twenty years, to try to establish indications for its use, typical doses, short and long term side effects, and treatment outcomes, including changes in acute treatment use and change in frequency and intensity of headache on treatment.ResultsFor the first 30 patients audited the most common indication for flunarizine was chronic migraine, followed by migraine with aura, sporadic hemiplegic migraine and familial hemiplegic migraine and then new persistent daily headache of a migrainous type. Doses up to 15mg were generally well tolerated, with only five patients stopping treatment due to adverse effects. Flunarizine is generally effective; with only three patients reporting no clinical effect: two had hemiplegic migraine and one chronic migraine. The commonest dose used was 10mg and a significant proportion of patients continued treatment for more than one year.ConclusionFlunarizine is an effective, well tolerated migraine preventive that can be used for extended periods in a range of migraine sub-types.

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Cuenca-León, E., R. Corominas, N. Fernàndez-Castillo, V. Volpini, M. del Toro, M. Roig, A. Macaya, and B. Cormand. "Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes." Cephalalgia 28, no. 10 (October 2008): 1039–47. http://dx.doi.org/10.1111/j.1468-2982.2008.01645.x.

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Familial hemiplegic migraine (FHM) is a rare type of migraine with aura. Mutations in three genes have been described in FHM patients: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). We screened 27 Spanish patients with hemiplegic migraine (HM), basilar-type migraine or childhood periodic syndromes (CPS) for mutations in these three genes. Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cys, and a previously annotated change, p.Cys1534Ser, were identified in individuals with HM, although they have not yet been proven to be pathogenic. Interestingly, p.Tyr1245Cys was detected in a patient displaying a changing, age-specific phenotype that began as benign paroxysmal torticollis of infancy, evolving into benign paroxysmal vertigo of childhood and later becoming HM. This is the first instance of a specific non-synonymous base change being described in a subject affected with CPS. The fact that the molecular screen identified non-synonymous changes in< 15± of our HM patients further stresses the genetic heterogeneity underlying the presumably monogenic forms of migraine.

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Gardner, Kathy, M. Michael Barmada, Louis J. Ptacek, and Eric P. Hoffman. "A new locus for hemiplegic migraine maps to chromosome 1q31." Neurology 49, no. 5 (November 1997): 1231–38. http://dx.doi.org/10.1212/wnl.49.5.1231.

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A single familial hemiplegic migraine locus has been previously mapped to 19p13.1 and associated with mutations in a calcium channel gene (CACNL1A4). We describe a new 39-member four-generation family from Wyoming of German-Native American descent with autosomal dominant familial hemiplegic migraine that is not linked to the chromosome 19p locus. Affected individuals showed a stereotypic pattern of migrainous headache associated with hemisensory and hemiparetic attacks, without other headache types. Eighty-three percent reported minor head trauma as a trigger for individual attacks. Seventy-two percent reported other typical migraine triggers for the attacks. Attack frequency decreased with age and the overall course was benign. Genetic linkage studies of this family found strong evidence for the disease gene in this family being located at chromosome 1q31. Multipoint analysis showed lod scores >3 in a 44-cm region flanked by D1S158 and D1S2781, using 80% penetrance and a phenocopy rate of 1/50. Haplotype and multipoint analysis, including flanking markers, suggested incomplete penetrance and variable expressivity of the disease. A single affected patient who reports atypical symptoms including daily headaches likely represents a phenocopy. This new locus for hemiplegic migraine suggests that mutations of additional calcium channels in the region may cause the disease.

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Müllner, Carmen, Ludo A. M. Broos, Arn M. J. M. van den Maagdenberg, and Jörg Striessnig. "Familial Hemiplegic Migraine Type 1 Mutations K1336E, W1684R, and V1696I Alter Cav2.1 Ca2+Channel Gating." Journal of Biological Chemistry 279, no. 50 (September 23, 2004): 51844–50. http://dx.doi.org/10.1074/jbc.m408756200.

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Mutations in the Cav2.1 α1-subunit of P/Q-type Ca2+channels cause human diseases, including familial hemiplegic migraine type-1 (FHM1). FHM1 mutations alter channel gating and enhanced channel activity at negative potentials appears to be a common pathogenetic mechanism. Different β-subunit isoforms (primarily β4and β3) participate in the formation of Cav2.1 channel complexes in mammalian brain. Here we investigated not only whether FHM1 mutations K1336E (KE), W1684R (WR), and V1696I (VI) can affect Cav2.1 channel function but focused on the important question whether mutation-induced changes on channel gating depend on the β-subunit isoform. Mutants were co-expressed inXenopusoocytes together with β1, β3, or β4and α2δ1subunits, and channel function was analyzed using the two-electrode voltage-clamp technique. WR shifted the voltage dependence for steady-state inactivation of Ba2+inward currents (IBa) to more negative voltages with all β-subunits tested. In contrast, a similar shift was observed for KE only when expressed with β3. All mutations promotedIBadecay during pulse trains only when expressed with β1or β3but not with β4. Enhanced decay could be explained by delayed recovery from inactivation. KE acceleratedIBainactivation only when co-expressed with β3, and VI slowed inactivation only with β1or β3. KE and WR shifted channel activation ofIBato more negative voltages. As the β-subunit composition of Cav2.1 channels varies in different brain regions, our data predict that the functional FHM1 phenotype also varies between different neurons or even within different neuronal compartments.

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Suzuki, Masanobu, Keishi Fujiwara, Takashi Tsubuku, Ichiro Yabe, Hidenao Sasaki, and Satoshi Fukuda. "Time course of downbeat positioning nystagmus in familial hemiplegic migraine type 1 treated with acetazolamide." Journal of the Neurological Sciences 368 (September 2016): 206–8. http://dx.doi.org/10.1016/j.jns.2016.07.020.

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Riant, Florence, Caroline Roos, Agathe Roubertie, Cécile Barbance, Jessica Hadjadj, Stéphane Auvin, Guillaume Baille, et al. "Hemiplegic Migraine Associated With PRRT2 Variations." Neurology 98, no. 1 (October 14, 2021): e51-e61. http://dx.doi.org/10.1212/wnl.0000000000012947.

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Background and ObjectivePRRT2 variants have been reported in a few cases of patients with hemiplegic migraine. To clarify the role of PRRT2 in familial hemiplegic migraine, we studied this gene in a large cohort of affected probands.MethodsPRRT2 was analyzed in 860 probands with hemiplegic migraine, and PRRT2 variations were identified in 30 probands. Genotyping of relatives identified a total of 49 persons with variations whose clinical manifestations were detailed.ResultsPRRT2 variations were found in 12 of 163 probands who previously tested negative for CACNA1A, ATP1A2, and SCN1A variations and in 18 of 697 consecutive probands screened simultaneously on the 4 genes. In this second group, pathogenic variants were found in 105 individuals, mostly in ATP1A2 (42%), followed by CACNA1A (26%), PRRT2 (17%), and SCN1A (15%). The PRRT2 variations included 7 distinct variants, 5 of which have already been described in persons with paroxysmal kinesigenic dyskinesia and 2 new variants. Eight probands had a deletion of the whole PRRT2 gene. Among the 49 patients with variations in PRRT2, 26 had pure hemiplegic migraine and 16 had hemiplegic migraine associated with another manifestation: epilepsy (8), learning disabilities (5), hypersomnia (4), or abnormal movement (3). Three patients had epilepsy without migraine: 2 had paroxysmal kinesigenic dyskinesia without migraine, and 1 was asymptomatic.DiscussionPRRT2 should be regarded as the fourth autosomal dominant gene for hemiplegic migraine and screened in any affected patient, together with the 3 other main genes. Further studies are needed to understand how the same loss-of-function PRRT2 variations can lead to a wide range of neurologic phenotypes, including paroxysmal movement disorder, epilepsy, learning disabilities, sleep disorder, and hemiplegic migraine.

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Kowalska, Marta, Michał Prendecki, Thomas Piekut, Wojciech Kozubski, and Jolanta Dorszewska. "Migraine: Calcium Channels and Glia." International Journal of Molecular Sciences 22, no. 5 (March 7, 2021): 2688. http://dx.doi.org/10.3390/ijms22052688.

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Migraine is a common neurological disease that affects about 11% of the adult population. The disease is divided into two main clinical subtypes: migraine with aura and migraine without aura. According to the neurovascular theory of migraine, the activation of the trigeminovascular system (TGVS) and the release of numerous neuropeptides, including calcitonin gene-related peptide (CGRP) are involved in headache pathogenesis. TGVS can be activated by cortical spreading depression (CSD), a phenomenon responsible for the aura. The mechanism of CSD, stemming in part from aberrant interactions between neurons and glia have been studied in models of familial hemiplegic migraine (FHM), a rare monogenic form of migraine with aura. The present review focuses on those interactions, especially as seen in FHM type 1, a variant of the disease caused by a mutation in CACNA1A, which encodes the α1A subunit of the P/Q-type voltage-gated calcium channel.

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Tao, Jin, Ping Liu, Zheman Xiao, Hucheng Zhao, Benjamin R. Gerber, and Yu-Qing Cao. "Effects of familial hemiplegic migraine type 1 mutation T666M on voltage-gated calcium channel activities in trigeminal ganglion neurons." Journal of Neurophysiology 107, no. 6 (March 15, 2012): 1666–80. http://dx.doi.org/10.1152/jn.00551.2011.

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Familial hemiplegic migraine type 1 (FHM-1), a rare hereditary form of migraine with aura and hemiparesis, serves as a good model for exploring migraine pathophysiology. The FHM-1 gene encodes the pore-forming CaV2.1 subunit of human P/Q-type voltage-gated Ca2+ channels (VGCCs). Some FHM-1 mutations result in a decrease of whole cell P/Q-type current density in transfected cells/neurons. Questions remain as to whether and how these mutations may increase the gain of the trigeminal nociceptive pathway underlying migraine headache. Here, we investigated the effects of T666M, the most frequently occurring FHM-1 mutation, on VGCC currents and neuronal excitability in trigeminal ganglion (TG) neurons. We expressed human wild-type and T666M CaV2.1 subunits in cultured TG neurons from CaV2.1 knockout mice and recorded whole cell VGCC currents in transfected neurons. Currents mediated by individual VGCC subtypes were dissected according to their pharmacological and biophysical properties. TG neurons were sorted into three subpopulations based on their soma size and their affinity to isolectin B4 (IB4). We found that the T666M mutation did not affect total or surface expression of CaV2.1 proteins but caused a profound reduction of P/Q-type current in all subtypes of TG neurons. Interestingly, a compensatory increase in CaV3.2-mediated low-voltage-activated T-type currents only occurred in small IB4-negative (IB4−) TG neurons expressing T666M subunits. Current-clamp recordings showed that the T666M mutation resulted in hyperexcitability of the small IB4− TG population. Taken together, our results suggest a possible scenario through which FHM-1 mutations might increase the gain of the trigeminal nociceptive pathway.

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Li, Dana, Anne F. Christensen, and Jes Olesen. "Field-testing of the ICHD-3 beta/proposed ICD-11 diagnostic criteria for migraine with aura." Cephalalgia 35, no. 9 (November 25, 2014): 748–56. http://dx.doi.org/10.1177/0333102414559731.

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Introduction In 2013 the International Headache Society published the third International Classification of Headache Disorders beta-version, ICHD-3 beta. Its structure is identical to that of the present proposed version of the International Classification of Diseases (ICD-11), although slightly abbreviated to fulfill the needs of ICD-11. In the following, only ICHD-3 beta is mentioned, but findings regarding the validity of ICHD-3 beta categories are equally relevant to the forthcoming ICD-11. Here we field-tested the criteria for 1.2 migraine with aura (MA), 1.2.1 migraine with typical aura (MTA), 1.2.3 hemiplegic migraine, 1.2.2 migraine with brainstem aura, and the alternative criteria A1.2 MA and A1.2.1 MTA. Methods Clinical characteristics were systematically and prospectively collected from patients with 1.2.1 MTA, 1.2.4 familial hemiplegic migraine (FHM), 1.2.5 sporadic hemiplegic migraine (SHM) and 1.2.6 basilar-type migraine according to ICHD-2 in a cross-sectional study design. A database of 2464 patients with 1.1 migraine without aura and 1.2 migraine with non-hemiplegic aura and a database of 252 hemiplegic migraine patients (1.2.4 FHM or 1.2.5 SHM) was collected. We used SPSS 20 for Windows 8.0 for the statistical analysis. Results All ICHD-2 patients fulfilled ICHD-3 beta criteria for 1.2 MA. The ICHD-3 beta criteria for 1.2.1 MTA were more sensitive than ICHD-2 and ICHD-3 beta alternative criteria; they resulted in fewer probable MA diagnoses. Too many patients fulfilled ICHD-2 and ICHD-3 beta criteria for 1.2.2 migraine with brainstem aura. ICHD-3 beta criteria for 1.2.4 FHM and 1.2.5 SHM both comply with ICHD-2. Conclusion The new criteria in ICHD-3 beta/proposed ICD-11 for 1.2 MA, 1.2.1 MTA, 1.2.3.1 FHM and 1.2.3.2 SHM have more desirable properties than ICHD-2 and the ICHD-3 beta alternative criteria. The criteria for 1.2.2 migraine with brainstem aura should be more restrictive.

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Indelicato, Elisabetta, Wolfgang Nachbauer, Andreas Eigentler, Evelin Donnemiller, Michaela Wagner, Iris Unterberger, and Sylvia Boesch. "Ten years of follow-up in a large family with familial hemiplegic migraine type 1: Clinical course and implications for treatment." Cephalalgia 38, no. 6 (August 31, 2017): 1167–76. http://dx.doi.org/10.1177/0333102417715229.

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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). Brain imaging studies and EEG data were also collected. Results Our long-term follow-up revealed that ictal manifestations, which usually improve after the adolescence, may reoccur later in the adulthood. Permanent neurological signs as assessed by means of clinical evaluation as well as follow-up MRIs, EEGs and neuropsychological testing remained stable. Interval therapy with non-selective calcium antagonists reduced the burden of migraine attacks and was well tolerated in the long term.

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Smeets, MC, CB Vernooy, JHM Souverijn, and MD Ferrari. "Intracellular and Plasma Magnesium in Familial Hemiplegic Migraine and Migraine With and Without Aura." Cephalalgia 14, no. 1 (February 1994): 29–32. http://dx.doi.org/10.1046/j.1468-2982.1994.1401029.x.

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Familial hemiplegic migraine (FHM) is an autosomal dominant type of migraine and probably represents the most extreme end of migraine with aura. Reduced magnesium facilitates the development of spreading depression and possibly aura. Cellular magnesium levels are under genetic control. We hypothesized that FHM patients would have significantly reduced intracellular magnesium levels. We determined intracellular and plasma magnesium levels in blood of 38 afflicted and 11 non-afflicted members of three families with FHM and, in 32 migraine patients (9 with and 23 without aura) and 32 age and sex matched healthy controls. We found no significant differences between the magnesium levels in the five study groups. We conclude that reduced blood magnesium is unlikely to be related to migraine pathophysiology.

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Garza-López, Edgar, Ricardo González-Ramírez, María A. Gandini, Alejandro Sandoval, and Ricardo Felix. "The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels." Cephalalgia 33, no. 6 (February 19, 2013): 398–407. http://dx.doi.org/10.1177/0333102412475236.

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Background Familial hemiplegic migraine type 1 (FHM-1) is an autosomal dominant form of migraine with aura characterized by recurrent migraine, hemiparesis and ataxia. FHM-1 has been linked to missense mutations in the CACNA1A gene encoding the pore-forming subunit of the neuronal voltage-gated P/Q-type Ca2+ channel (CaV2.1α1). Methods Here, we explored the effects of the FHM-1 K1336E mutation on G protein-dependent modulation of the recombinant P/Q-type channel. The mutation was introduced into the human CaV2.1α1 subunit and its functional consequences investigated after heterologous expression in HEK-293 cells using patch-clamp recordings. Results Functional analysis of the K1336E mutation revealed a reduction of Ca2+ current densities, a ∼10 mV left-shift in the current-voltage relationship, and the slowing of current inactivation kinetics. When co-expressed along with the human μ-opioid receptor, application of the agonist DAMGO inhibited whole-cell currents through both the wild-type and the mutant channels. Prepulse facilitation was also reduced by the K1336E mutation. Likewise, the kinetic analysis of the onset and decay of facilitation showed that the mutation affects the apparent dissociation and reassociation rates of the Gβγ dimer from the channel complex. Conclusions These results suggest that the extent of G-protein-mediated inhibition is significantly reduced in the K1336E mutant CaV2.1 Ca2+ channels. This alteration would contribute to render the neuronal network hyperexcitable, possibly as a consequence of reduced presynaptic inhibition, and may help to explain some aspects of the FHM-1 pathophysiology.

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Roth, Christian, Andreas Ferbert, Monika Huegens-Penzel, Ralf Siekmann, and Tobias Freilinger. "Multimodal imaging findings during severe attacks of familial hemiplegic migraine type 2." Journal of the Neurological Sciences 392 (September 2018): 22–27. http://dx.doi.org/10.1016/j.jns.2018.06.019.

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Blicher, Jakob Udby, Anna Tietze, Manus J. Donahue, Seth A. Smith, and Leif Østergaard. "Perfusion and pH MRI in familial hemiplegic migraine with prolonged aura." Cephalalgia 36, no. 3 (May 6, 2015): 279–83. http://dx.doi.org/10.1177/0333102415586064.

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Introduction To investigate tissue flow disturbance and hypoxia during migraine aura, we studied a case of familial hemiplegic migraine (FHM) using novel magnetic resonance imaging (MRI) techniques. Case results A 44-year-old male was admitted with suspected stroke because of confusion and aphasia. Initial gadolinium-based perfusion MRI showed a decrease in cerebral blood flow and an increase in capillary flow disturbances within the left hemisphere. Later during the prolonged aura phase, chemical exchange saturation transfer MRI indicated a drop in pH in the affected area. The patient was diagnosed with an R908Q mutation in the ATP1A2 gene causing FHM type 2. Discussion During prolonged aura in FHM, MRI shows reduced CBF, capillary flow disturbances and a possible pH drop that could indicate tissue hypoxia.

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Lombardo, Salvo, Emanuela Mazzon, Maria Basile, Eugenio Cavalli, Placido Bramanti, Riccardo Nania, Paolo Fagone, Ferdinando Nicoletti, and Maria Petralia. "Upregulation of IL-1 Receptor Antagonist in a Mouse Model of Migraine." Brain Sciences 9, no. 7 (July 19, 2019): 172. http://dx.doi.org/10.3390/brainsci9070172.

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Migraine is a disorder characterized by attacks of monolateral headaches, often accompanied by nausea, vomiting, and photophobia. Around 30% of patients also report aura symptoms. The cause of the aura is believed to be related to the cortical spreading depression (CSD), a wave of neuronal and glial depolarization originating in the occipital cortex, followed by temporary neuronal silencing. During a migraine attack, increased expression of inflammatory mediators, along with a decrease in the expression of anti-inflammatory genes, have been observed. The aim of this study was to evaluate the expression of inflammatory genes, in particular that of IL-1 receptor antagonist (IL-1RN), following CSD in a mouse model of familial hemiplegic migraine type 1 (FHM-1). We show here that the expression of IL-1RN was upregulated after the CSD, suggesting a possible attempt to modulate the inflammatory response. This study allows researchers to better understand the development of the disease and aids in the search for new therapeutic strategies in migraine.

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Mathew, Rammya, Anna P. Andreou, Linda Chami, Astrid Bergerot, Arn MJM van den Maagdenberg, Michel D. Ferrari, and Peter J. Goadsby. "Immunohistochemical characterization of calcitonin gene-related peptide in the trigeminal system of the familial hemiplegic migraine 1 knock-in mouse." Cephalalgia 31, no. 13 (September 5, 2011): 1368–80. http://dx.doi.org/10.1177/0333102411418847.

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Introduction: Familial hemiplegic migraine type 1 (FHM-1) is caused by mutations in the CACNA1A gene, with the R192Q mutation being the most common. Elevated calcitonin gene-related peptide (CGRP) levels in acute migraine and clinical trials using CGRP receptor antagonists suggest CGRP-related mechanisms are important in migraine. Methods: Wild-type and R192Q knock-in mice were anaesthetized and perfused. Using immunohistochemical staining, the expression of CGRP in the trigeminocervical complex (TCC) and in the trigeminal and dorsal root ganglia was characterized. Results: There was a 38% reduction in the percentage of CGRP-immunoreactive cells in the trigeminal ganglia ( p < 0.001) of R192Q knock-in mice compared to wild-type animals. The size distribution profile of CGRP-immunoreactive cells within the trigeminal ganglia demonstrated no significant difference in cell diameter between the two groups ( p ≥ 0.56). CGRP expression was also reduced in thoracic ganglia of R192Q knock-in mice (21% vs. 27% in wild-type group; p < 0.05), but not in other ganglia. In addition, decreased CGRP immunoreactivity was observed in the superficial laminae of the TCC in R192Q knock-in mice, when compared to the control group ( p < 0.005). Conclusion: The data demonstrates that the FHM-1 CACNA1A mutation alters CGRP expression in the trigeminal ganglion and TCC. This suggests further study of these animals is warranted to characterize better the role of these mutations in the neurobiology of migraine.

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Pierelli, F., GS Grieco, F. Pauri, C. Pirro, G. Fiermonte, A. Ambrosini, A. Costa, et al. "A Novel ATP1A2 Mutation in a Family with FHM Type II." Cephalalgia 26, no. 3 (March 2006): 324–28. http://dx.doi.org/10.1111/j.1468-2982.2006.01002.x.

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Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura with an autosomal dominant pattern of inheritance. Six FHM families underwent extensive clinical and genetic investigation. The authors identified a novel ATP1A2 mutation (E700K) in three patients from one family. In the patients, attacks were triggered by several factors including minor head trauma. In one subject a 3-day coma developed after a cerebral angiography. Overall, the phenotype of the patients closely resembles that of previously reported cases of FHM type II. The E700K variant might be regarded as the cause of the disease in this family, but this was not tested functionally.

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Kraus, Richard L., Martina J. Sinnegger, Alexandra Koschak, Hartmut Glossmann, Stefania Stenirri, Paola Carrera, and Jörg Striessnig. "Three New Familial Hemiplegic Migraine Mutants Affect P/Q-type Ca2+Channel Kinetics." Journal of Biological Chemistry 275, no. 13 (March 24, 2000): 9239–43. http://dx.doi.org/10.1074/jbc.275.13.9239.

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Marconi, Roberto, Maurizio De Fusco, Paolo Aridon, Katrin Plewnia, Maja Rossi, Sadia Carapelli, Andrea Ballabio, et al. "Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23." Annals of Neurology 53, no. 3 (February 24, 2003): 376–81. http://dx.doi.org/10.1002/ana.10464.

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Luan, Huiyan, Lei Zhang, Sijin Zhang, and Meng Zhang. "Next-generation sequencing identified a novel CACNA1A I1379F variant in a familial hemiplegic migraine type 1 pedigree." Medicine 100, no. 51 (December 23, 2021): e28141. http://dx.doi.org/10.1097/md.0000000000028141.

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Kaja, Simon, Rob C. G. Van de Ven, Ludo A. M. Broos, Rune R. Frants, Michel D. Ferrari, Arn M. J. M. Van den Maagdenberg, and Jaap J. Plomp. "Severe and Progressive Neurotransmitter Release Aberrations in Familial Hemiplegic Migraine Type 1 Cacna1a S218L Knock-in Mice." Journal of Neurophysiology 104, no. 3 (September 2010): 1445–55. http://dx.doi.org/10.1152/jn.00012.2010.

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Familial hemiplegic migraine type 1 (FHM1) is caused by mutations in the CACNA1A gene, encoding neuronal presynaptic CaV2.1 (P/Q-type) Ca2+ channels. These channels mediate neurotransmitter release at many central synapses and at the neuromuscular junction (NMJ). Mutation S218L causes a severe neurological phenotype of FHM and, additionally, ataxia and susceptibility to seizures, delayed brain edema, and fatal coma after minor head trauma. Recently, we generated a Cacna1a S218L knock-in mutant mouse, displaying these features and reduced survival. A first electrophysiological study showed high susceptibility for cortical spreading depression, enhanced neuronal soma Ca2+ influx, and at diaphragm NMJs, a considerable increase of neurotransmitter release. We here assessed the function of S218L knock-in NMJs at several muscle types in great detail. Pharmacological analyses using specific CaV subtype-blocking toxins excluded compensatory contribution of non-CaV2.1 channels. Endplate potentials were considerably broadened at many NMJs. High rate (40 Hz)–evoked acetylcholine release was slightly reduced; however, it was not associated with block of neurotransmission causing weakness, as assessed with grip strength measurements and in vitro muscle contraction experiments. The synaptopathy clearly progressed with age, including development of an increased acetylcholine release at low-rate nerve stimulation at physiological extracellular Ca2+ concentration and further endplate potential broadening. Our results suggest enhanced Ca2+ influx into motor nerve terminals through S218L-mutated presynaptic CaV2.1 channels, likely because of the earlier reported negative shift of activation potential and reduced inactivation. Similar severe aberrations at central synapses of S218L mutant mice and humans may underlie or contribute to the drastic neurological phenotype.

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Shyti, Reinald, Katharina Eikermann-Haerter, Sandra H. van Heiningen, Onno C. Meijer, Cenk Ayata, Marian Joëls, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, and Else A. Tolner. "Stress hormone corticosterone enhances susceptibility to cortical spreading depression in familial hemiplegic migraine type 1 mutant mice." Experimental Neurology 263 (January 2015): 214–20. http://dx.doi.org/10.1016/j.expneurol.2014.10.015.

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Eikermann-Haerter, Katharina, Michal Arbel-Ornath, Nilufer Yalcin, Esther S. Yu, Kishore V. Kuchibhotla, Izumi Yuzawa, Eloise Hudry, et al. "Abnormal synaptic Ca2+homeostasis and morphology in cortical neurons of familial hemiplegic migraine type 1 mutant mice." Annals of Neurology 78, no. 2 (July 6, 2015): 193–210. http://dx.doi.org/10.1002/ana.24449.

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Journal articles on the topic 'Familial hemiplegic migraine type-1'

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