CACNA1A-Linked Hemiplegic Migraine in GLUT 1 Deficiency Syndrome: A Case Report

Scoppola, Chiara; Magli, Giorgio; Conti, Marta Helena Souza De; Fadda, Maria Elisabetta; Luzzu, Giovanni M; Simula, Delia M.; Carta, Alessandra; Sotgiu, Stefano; Casellato, Susanna

doi:10.3389/fneur.2021.679354

Cited by 4 publications

(2 citation statements)

References 14 publications

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“…Ten pediatric patients with Glut1 deficiency syndrome due to SLC1A2 mutations showed HM-like attacks; only three were tested for typical HM genes and one showed a coexisting mutation in the CACNA1A gene. Further studies are needed to better understand if SLC1A2 mutations alone could cause HM-like acute manifestation or if other secondary mutations are needed to determine the HM phenotype [21].…”

Section: Genetics and Relation With Other Migraine Typesmentioning

confidence: 99%

Hemiplegic Migraine in Children and Adolescents

Bonemazzi

Brunello

et al. 2023

JCM

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Background: Only a few studies have focused on hemiplegic migraine (HM) in children despite its early age of onset. The aim of this review is to describe the peculiar characteristics of pediatric HM. Methods: This is a narrative review based on 14 studies on pediatric HM selected from 262 papers. Results: Different from HM in adults, pediatric HM affects both genders equally. Early transient neurological symptoms (prolonged aphasia during a febrile episode, isolated seizures, transient hemiparesis, and prolonged clumsiness after minor head trauma) can precede HM long before its onset. The prevalence of non-motor auras among children is lower than it is in adults. Pediatric sporadic HM patients have longer and more severe attacks compared to familial cases, especially during the initial years after disease onset, while familial HM cases tend to have the disease for longer. During follow-up, the frequency, intensity, and duration of HM attacks often decrease. The outcome is favorable in most patients; however, neurological conditions and comorbidities can be associated. Conclusion: Further studies are needed to better define the clinical phenotype and the natural history of pediatric HM and to refine genotype–phenotype correlations in order to improve the knowledge on HM physiopathology, diagnosis, and outcome.

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Section: Genetics and Relation With Other Migraine Typesmentioning

confidence: 99%

Hemiplegic Migraine in Children and Adolescents

Bonemazzi

Brunello

et al. 2023

JCM

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“…In addition to being a migraine trigger, hypoglycaemia is thought to have a causative role in fasting headache, defined as occurring following 16 h of fasting and resolving within 72 h of food intake [23]. Another example is the GLUT1 deficiency syndrome: it results in impaired facilitated diffusion of glucose into the brain and can cause epileptic encephalopathy, however, there are milder phenotypes that demonstrate hemiplegic migraine [35,36]. It is plausible that GLUT1 deficiency…”

Section: Dysfunctional Glucose Metabolism In Migrainementioning

confidence: 99%

Alterations in metabolic flux in migraine and the translational relevance

et al. 2022

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Background Migraine is a highly prevalent disorder with significant economical and personal burden. Despite the development of effective therapeutics, the causes which precipitate migraine attacks remain elusive. Clinical studies have highlighted altered metabolic flux and mitochondrial function in patients. In vivo animal experiments can allude to the metabolic mechanisms which may underlie migraine susceptibility. Understanding the translational relevance of these studies are important to identifying triggers, biomarkers and therapeutic targets in migraine. Main body Functional imaging studies have suggested that migraineurs feature metabolic syndrome, exhibiting hallmark features including upregulated oxidative phosphorylation yet depleted available free energy. Glucose hypometabolism is also evident in migraine patients and can lead to altered neuronal hyperexcitability such as the incidence of cortical spreading depression (CSD). The association between obesity and increased risk, frequency and worse prognosis of migraine also highlights lipid dysregulation in migraine pathology. Calcitonin gene related peptide (CGRP) has demonstrated an important role in sensitisation and nociception in headache, however its role in metabolic regulation in connection with migraine has not been thoroughly explored. Whether impaired metabolic function leads to increased release of peptides such as CGRP or excessive nociception leads to altered flux is yet unknown. Conclusion Migraine susceptibility may be underpinned by impaired metabolism resulting in depleted energy stores and altered neuronal function. This review discusses both clinical and in vivo studies which provide evidence of altered metabolic flux which contribute toward pathophysiology. It also reviews the translational relevance of animal studies in identifying targets of biomarker or therapeutic development.

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Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic Disorders

Couto,

Galosi,

Steel

et al. 2024

Movement Disorders

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Acute presentation of severe motor disorders is a diagnostic and management challenge. We define severe acute motor exacerbations (SAME) as acute/subacute motor symptoms that persist for hours‐to‐days with a severity that compromise vital signs (temperature, breath, and heart rate) and bulbar function (swallowing/dysphagia). Phenomenology includes dystonia, choreoathetosis, combined movement disorders, weakness, and hemiplegic attacks. SAME can develop in diverse diseases and can be preceded by triggers or catabolic states. Recent descriptions of SAME in complex neurodevelopmental and epileptic encephalopathies have broadened appreciation of this presentation beyond inborn errors of metabolism. A high degree of clinical suspicion is required to identify appropriately targeted investigations and management. We conducted a comprehensive literature analysis of etiologies. Reported triggers are described and classified as per pathophysiological mechanism. A video of six cases displaying multiple SAME with diverse outcomes is provided. We identified 50 different conditions that manifest SAME, some associated with developmental regression. Etiologies include disorders of metabolism: energy substrate, amino acids, complex molecules, vitamins/cofactors, minerals, and neurotransmitters/synaptic vesicle cycling. Non‐metabolic neurodegenerative and genetic disorders that present with movement disorders and epilepsy can additionally manifest SAME. A limited number of triggers are grouped here, together with an approach to investigations and general management strategies. Several neurogenetic and neurometabolic disorders manifest SAME. Identifying triggers can help in certain cases narrow the differential diagnosis and guide the expeditious application of targeted therapies to minimize adverse developmental and neurological consequences. This process may inform pathogenesis and eventually improve our understanding of the mechanisms that lead to the development of SAME. © 2024 International Parkinson and Movement Disorder Society.

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CACNA1A-Linked Hemiplegic Migraine in GLUT 1 Deficiency Syndrome: A Case Report

Cited by 4 publications

References 14 publications

Hemiplegic Migraine in Children and Adolescents

Hemiplegic Migraine in Children and Adolescents

Alterations in metabolic flux in migraine and the translational relevance

Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic Disorders

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