Article
Clinical Neurology
Fabio Antonaci, Sabrina Ravaglia, Gaetano S. Grieco, Stella Gagliardi, Cristina Cereda, Alfredo Costa
Summary: In cases of Familial Hemiplegic migraine type 2 caused by ATP1A2 gene mutations, there is a certain hereditary pattern and mild clinical manifestations. Further study on intra-familial variability and functional consequences of the channel protein may help clarify genotype-phenotype correlations.
JOURNAL OF HEADACHE AND PAIN
(2021)
Article
Clinical Neurology
David Fear, Misha Patel, Ramin Zand
Summary: Hemiplegic migraines are a heterogeneous disorder with genetic etiology, classified as sporadic or familial based on family history. MRI changes in Isotropic Diffusion Map (DWI) and Apparent Diffusion Coefficient (ADC) may assist in identifying cases of Hemiplegic Migraine, indicating transient changes throughout the course of an attack.
Article
Clinical Neurology
Buse Rahime Hasirci Bayir, Kemal Tutkavul, Metin Eser, Betul Baykan
Summary: This study systematically reviewed the coexistence of epilepsy in patients with familial hemiplegic migraine, finding that mutations in all three or possibly four FHM genes can cause epilepsy, with the highest number of cases associated with epilepsy belonging to the ATP1A2 mutation. Drug-resistant forms of epilepsy are rare in these patients.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2021)
Article
Clinical Neurology
Marina Romozzi, Guido Primiano, Eleonora Rollo, Lorena Travaglini, Paolo Calabresi, Serenella Servidei, Catello Vollono
Summary: Hemiplegic migraine is a rare form of migraine that can be sporadic or familial. A mutation in the CACNA1A gene, specifically the p.Thr501Met variant, was found in 12 out of 15 patients in a family, leading to familial hemiplegic migraine. The mutation can prevalently occur as hemiplegic migraine without significant cerebellar involvement.
JOURNAL OF HEADACHE AND PAIN
(2021)
Article
Clinical Neurology
Yingji Li, Wenjing Tang, Li Kang, Shanshan Kong, Zhao Dong, Dengfa Zhao, Ruozhuo Liu, Shengyuan Yu
Summary: Mutations in ATP1A2 gene can lead to phenotypes ranging from pure FHM to FHM with epilepsy and intellectual disability due to varying degrees of deficits in the biochemical and electrophysiological properties of Na+/K+-ATPase. Mutations associated with intellectual disability result in severe impairment of Na+/K+-ATPase, while the presence of epilepsy or the type of epilepsy does not seem to affect the degree of pump function impairment.
JOURNAL OF HEADACHE AND PAIN
(2021)
Article
Clinical Neurology
Giuseppe Donato Mangano, Maria Rita Capizzi, Elide Mantuano, Liana Veneziano, Giuseppe Santangelo, Giuseppe Quatrosi, Rosaria Nardello, Vincenzo Raieli
Summary: The aim of this study was to describe a cohort of pediatric patients with genetically confirmed familial hemiplegic migraine (FHM). The knowledge of genotype-phenotype correlations may suggest prognostic factors associated with severe phenotypes. The study data show that most of our patients with early-onset FHM experienced infrequent and non-severe attacks, which improved over time.
Article
Medicine, General & Internal
Huiyan Luan, Lei Zhang, Sijin Zhang, Meng Zhang
Summary: This case report presents a Chinese girl diagnosed with familial hemiplegic migraine type 1 through genetic and clinical assessment. Prophylactic therapy with flunarizine did not show improvement in the intensity of attacks in this patient.
Review
Clinical Neurology
Arathi Nandyala, Tulsi Shah, Jessica Ailani
Summary: This article provides a review of the recent updates in the epidemiology, diagnostic testing, genetics, pathophysiology, and management of hemiplegic migraine. Recent studies have identified two additional genes (PPRT2 and SLC1A3) that may be implicated in hemiplegic migraine, in addition to the three historically associated genes. Hemiplegic migraine is a severe form of migraine with aura that includes reversible hemiparesis and other aura symptoms. Understanding the comprehensive differential diagnosis and work-up is crucial due to the severity of the condition and the presence of mimickers. Further and larger studies are needed to explore the management of these cases.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
(2023)
Review
Medicine, General & Internal
Ilaria Bonemazzi, Francesco Brunello, Jacopo Norberto Pin, Mattia Pecoraro, Stefano Sartori, Margherita Nosadini, Irene Toldo
Summary: This review focuses on the characteristics of pediatric hemiplegic migraine (HM). It was found that unlike in adults, both genders are equally affected by pediatric HM. Early transient neurological symptoms such as prolonged aphasia during a febrile episode, isolated seizures, transient hemiparesis, and prolonged clumsiness after minor head trauma can precede HM in children. The prevalence of non-motor auras among children is lower compared to adults. Further studies are needed to better understand the clinical phenotype and natural history of pediatric HM and to refine genotype-phenotype correlations.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Clinical Neurology
Shanghua Fan, Qian Cao, Bin Peng, Bo Yin, Ting Xiao, Liu Sun, Hongjuan Dong
Summary: GNAL mutations (DYT25) have been identified as the first confirmed cause of focal adult-onset dystonia. This study reports a new mutation in the GNAL gene in two siblings with dystonia. The new mutation is referred to as NM 001,142,339:c.97C > T. The research highlights the potential impact of the new mutation on disease risk and stresses the importance of genetic testing for GNAL mutations in confirming the molecular diagnosis.
NEUROLOGICAL SCIENCES
(2022)
Article
Neurosciences
Ituki Oda, Daisuke Danno, Kazumasa Saigoh, Johanna Wolf, Norihito Kawashita, Makito Hirano, Makoto Samukawa, Shigekazu Kitamura, Shoji Kikui, Takao Takeshima, Yoshiyuki Mitsui, Susumu Kusunoki, Yoshitaka Nagai
Summary: This study analyzed the clinical symptoms of hemiplegic migraine (HM) and their relevance in four Japanese patients with ATP1A2 mutations. Four heterozygous missense mutations in ATP1A2 were found in these patients, three of which were previously unreported. These mutations may affect the structure of the protein products. The clinical symptoms of the patients included visual, sensory, motor, and verbal symptoms, with varying frequency and duration of headache attacks.
NEUROSCIENCE RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Inge C. M. Loonen, Isabelle Kohler, Mohan Ghorasaini, Martin Giera, Arn M. J. M. van den Maagdenberg, Oleg A. Mayboroda, Else A. Tolner
Summary: Metabolite levels in peripheral body fluids may be associated with attack features in migraine patients, indicating the potential of plasma metabolites as disease biomarkers. Lipid metabolic pathways were found to be affected by CSD, with transient increase in PGD2 and elevated levels of anti-inflammatory lipid mediators in wild-type mice after CSD. Monitoring peripheral changes in lipids could provide insights into central brain mechanisms related to migraine pathophysiology.
Article
Neurosciences
Alina Suleimanova, Max Talanov, Arn M. J. M. van den Maagdenberg, Rashid Giniatullin
Summary: Familial hemiplegic migraine type 3 (FHM3) is caused by gain-of-function mutations in the SCN1A gene, resulting in a dysfunction of Na(V)1.1 sodium channels. Computer modeling revealed that FHM3-mutated Na(V)1.1 channels contribute to abnormal nociceptive signaling in trigeminal pain mechanisms. Mutations leading to loss of Na(V)1.1 function reduce firing of trigeminal nerve fibers, while combined activation of P2X3 and 5-HT3 receptors in mutants results in prolonged and high-frequency spiking activity.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Article
Biology
Nicole A. Terpollili, Reinhard Dolp, Kai Waehner, Susanne M. Schwarzmaier, Elisabeth Rumbler, Boyan Todorov, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Nikolaus Plesnila
Summary: Patients with familial hemiplegic migraine type 1 (FHM1) may have severe outcomes after head trauma, and this study found that mice carrying FHM1 mutations had worse histopathological and functional outcomes after traumatic brain injury (TBI), possibly due to increased cortical spreading depolarizations (CSDs) and seizure activity.
Article
Biochemistry & Molecular Biology
Eleni Panagiotakaki, Francesco D. Tiziano, Mohamad A. Mikati, Lisanne S. Vijfhuizen, Sophie Nicole, Gaetan Lesca, Emanuela Abiusi, Agnese Novelli, Lorena Di Pietro, Aster V. E. Harder, Nicole M. Walley, Elisa De Grandis, Anne-Lise Poulat, Vincent Des Portes, Anne Lepine, Marie-Cecile Nassogne, Alexis Arzimanoglou, Rosaria Vavassori, Jan Koenderink, Christopher H. Thompson, Alfred L. George, Fiorella Gurrieri, Arn M. J. M. van den Maagdenberg, Erin L. Heinzen
Summary: This study identified genetic variants in various neurodevelopmental genes, including SCN2A, that lead to AHC or AHC-like presentation in the majority of ATP1A3-negative patients. However, the genetic cause of some patients remains unknown, suggesting the involvement of other mutational mechanisms or oligo- or polygenic risk factors.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)