Diagnostic and therapeutic aspects of hemiplegic migraine

Stefano, Vincenzo Di; Rispoli, Marianna Gabriella; Pellegrino, Noemi; Graziosi, Alessandro; Rotondo, Eleonora; Napoli, Christian; Pietrobon, Daniela; Brighina, Filippo; Parisi, Pasquale

doi:10.1136/jnnp-2020-322850

Cited by 90 publications

(106 citation statements)

References 101 publications

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“…According to the hypothesis linking lack of habituation to reduced cortical activation, this would mean that cortical excitability is further reduced in the preictal period, triggering the “brainstorm” of a migraine attack during which the high activation and increased cortical excitability normalize the habituation phenomenon. Interestingly, normal habituation has been proven to occur in familial hemiplegic migraine and CM, headache disorders characterized by a relevant increase in cortical excitability 93,94,97 …”

Section: Findings From Neuroimagingmentioning

confidence: 99%

Migraine as a Cortical Brain Disorder

et al. 2020

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Purpose Migraine is an exclusively human chronic disorder with ictal manifestations characterized by a multifaceted clinical complexity pointing to a cerebral cortical involvement. The present review is aimed to cover the clinical, neuroimaging, and neurophysiological literature on the role of the cerebral cortex in migraine pathophysiology. Overview Converging clinical scenarios, advanced neuroimaging data, and experimental neurophysiological findings, indicate that fluctuating excitability, plasticity, and metabolism of cortical neurons represent the pathophysiological substrate of the migraine cycle. Abnormal cortical responsivity and sensory processing coupled to a mismatch between the brain’s energy reserve and workload may ignite the trigeminovascular system, leading to the migraine attack through the activation of subcortical brain trigeminal and extra‐trigeminal structures, and driving its propagation and maintenance. Discussion The brain cortex emerges as the crucial player in migraine, a disorder lying at the intersection between neuroscience and daily life. Migraine disorder stems from an imbalance in inhibitory/excitatory cortical circuits, responsible for functional changes in the activity of different cortical brain regions encompassing the neurolimbic‐pain network, and secondarily allowing a demodulation of subcortical areas, such as hypothalamus, amygdala, and brainstem nuclei, in a continuous mutual crosstalk.

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Section: Findings From Neuroimagingmentioning

confidence: 99%

Migraine as a Cortical Brain Disorder

et al. 2020

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“…The migraine may be followed by the aura or may occur before the aura, its duration is uncertain, and occasionally absent. The aura lasts from several minutes to hours, and may last up to 4 weeks when hemiplegia acts as the aura (16,17). In rare cases, diplegia has been reported as a motor aura symptom (18).…”

Section: Discussionmentioning

confidence: 99%

“…Compared with FHM, SHM patients tends to have less non-motor auras, longer and more severe attacks, manifesting as acute encephalopathy, characterized by hemiplegia, coma, fever, convulsions, and so on (19). It is thought to be associated with increased glutamic acid release, decreased cortical spreading depression (CSD) threshold, and prolonged and repetitive CSD, all of which lead to cytotoxic and vasogenic edema (17,20). In our cohort, three patients were diagnosed with SHM1, with the age of onset between 2 to 4 years, which was much earlier than that of FHM1 as reported before (17).…”

Section: Discussionmentioning

confidence: 99%

“…It is thought to be associated with increased glutamic acid release, decreased cortical spreading depression (CSD) threshold, and prolonged and repetitive CSD, all of which lead to cytotoxic and vasogenic edema (17,20). In our cohort, three patients were diagnosed with SHM1, with the age of onset between 2 to 4 years, which was much earlier than that of FHM1 as reported before (17). All of them suffered severe acute encephalopathy, which was usually triggered by minor head trauma.…”

Section: Discussionmentioning

confidence: 99%

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CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes

et al. 2020

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Background: The CACNA1A gene encodes the voltage-dependent P/Q-type calcium channel subunit alpha-1A, which is widely expressed throughout the CNS. The biological roles of the P/Q channel are diverse and the phenotypic spectrum caused by CACNA1A mutations is wide. The aim of this study is to demonstrate its phenotypic diversity and analyze the genotype-phenotype correlations in a cohort of Chinese patients.Methods: Patients with hemiplegic migraine, cerebellar ataxia, developmental delay, or epilepsy without known causes were tested by trios whole-exome sequencing. Patients with pathogenic CACNA1A gene variants were recruited. The clinical information of the patients was collected, and the association between the genotype and the phenotype was investigated.Results: In total, eight patients (six females and two males) were found to have CACNA1A gene variants. All the variants were de novo including six missense variants and one frameshift variant. Four de novo missense variants were found in five patients located in the S4, S5, or S6 transmembrane segments of Domain II and III (p.R1352Q, p.G701V, p.A713T, p.V1393M). All of them were correlated with severe phenotypes, including three with sporadic hemiplegic migraine type 1 and epilepsy, and two with developmental and epileptic encephalopathy. The other two missense variants, p.Y62C and p.F1814L, located in the cytoplasmic side of the N-terminus and C-terminus, respectively. The variant p.Y62C was associated with severe hemiconvulsion-hemiplegia-epilepsy syndrome, and p.F1814L was associated with relatively mild phenotypes. All the missense variants were speculated as gain-of-function (GOF) mutations. The only frameshift variant, p.Q681Rfs*100, a lose-of-function (LOF) mutation, was found in a patient with episodic ataxia type 2. Meanwhile, all the patients had developmental delay ranging from mild to severe, as well as cerebellar ataxia including one with congenital ataxia, one with episodic ataxia, and six with non-progressive ataxia.Conclusions:CACNA1A variants could lead to a wide spectrum of neurological disorders including epileptic or non-epileptic paroxysmal events, cerebellar ataxia, and developmental delay. The variants could be both GOF and LOF mutations. There appeared to be some correlations between genotypes and phenotypes.

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“…1,2 In recent decades much progress has been made in the understanding of the pathophysiology of migraine, especially on genetics, biology, and neurophysiology, thus creating new opportunities for effective management through targeted therapies. [3][4][5][6][7][8] Different factors have been identified as being able to provoke, induce or, in contrast, to protect against the precipitation of migraine attacks. 3 The identification of protective and inducing conditions is important for an effective therapeutic approach, and in some cases can be effective in reducing the need for drug treatment.…”

Section: Introductionmentioning

confidence: 99%

Migraine and Sport in a Physically Active Population of Students: Results of a Cross‐Sectional Study

et al. 2020

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Objective In this study, we explored the relationship between migraine and sport in a physically active population of students, analyzing the risk of migraine among sporty students. Background The relationship between sport and migraine is controversial; moreover, several studies report on sport as a migraine trigger, but there is evidence that physical activity could have a relevant role in migraine prevention. Methods A cross‐sectional survey was conducted using the validated ID‐migraine questionnaire including specific demo‐anthropometric (gender, age, weight, height) and sports variables on a potentially active student population of the University of Palermo. Evaluation in putative migraine subjects of clinical features and disability was explored through the administration of the Italian version of the Migraine Disability Assessment Scale. Statistical analyses were performed using univariate and logistic regression analyses. Results Three hundred and ninety‐three out of 520 students (210 F, mean age: 23.5 ± 0.7 years; 183 M; mean age: 20.5 ± 0.7 years) participated in this study. Migraine screened positive in 102 subjects (26.0%) and its prevalence was significantly higher among females (P < .001). An increased risk of migraine was found in females, and a protective effect of sport on the risk of migraine among females, but not among males. Conclusions The role of exercise in migraine is still unclear. This study supports a protective role of sport in migraine reporting a protective effect in females. Further studies are needed to deepen the association between sport and migraine.

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Diagnostic and therapeutic aspects of hemiplegic migraine

Cited by 90 publications

References 101 publications

Migraine as a Cortical Brain Disorder

Migraine as a Cortical Brain Disorder

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes

Migraine and Sport in a Physically Active Population of Students: Results of a Cross‐Sectional Study

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