Search results for " Migraine"
showing 10 items of 96 documents
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.
2006
Summary: Purpose: Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition characterized by partial seizures, onset age from 3 to 9 months, and favorable outcome. BFIS loci were identified on chromosomes 19q12-13.1 and 16p12-q12, allelic to infantile convulsions and choreathetosis. The identification of SCN2A mutations in families with only infantile seizures indicated that BFNIS and BFIS may show overlapping clinical features. Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. We have examined the heterogeneous genetics of BFIS by means of linkage analysis. Methods: Sixteen families were examined. Probands …
ATP1A2 mutations in 11 families with familial hemiplegic migraine.
2005
Abstract Familial hemiplegic migraine (FHM) is an autosomal dominant form of migraine with aura. The disease is caused by mutations of at least three genes among which two have been identified, CACNA1A and ATP1A2. Very few mutations have been identified so far in ATP1A2. We screened the coding sequence of ATP1A2 in 26 unrelated FHM probands in whom CACNA1A screening was negative. A total of eight different mutations were identified in 11 of the probands (41%), including six missense mutations, one small deletion leading to a frameshift, and one in frame deletion. All were novel mutations. Two mutations were recurrent, in three and two families, respectively. Genotyping of 94 relatives of th…
Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy
2020
An Italian family with familial hemiplegic migraine (FHM) with the absence of mutations in the known genes associated with this disorder, namely ATP1A2, ATP1A3, CACNA1A, and SCN1A, has recently been reported. Soon afterward, whole exome sequencing allowed the identification of the carrier status of a heterozygous ATP1A4 mutation c.1798 C >T, in four affected members of this family. Here we compare the clinical symptoms of the affected family members with those from the other FHM families linked to mutations in the known genes associated with this disorder. A further two-year follow-up, including clinical response to carbamazepine administered to the proband and the maternal grandmother due …
Cortical excitability changes in chronic migraine vs episodic migraine: evidence by sound-induced flash illusions
2014
Introduction: Sound-induced flash illusions(SIFI) permit to evaluate crossmodal audio-visual perception. When one flash is accompanied by two beeps, it is perceived as two flashes(’fission’illusion); a ‘fusion’ illusion occurs when a single beep causes the fusion of a double flash stimulus. SIFI strictly depends on cortical excitability: healthy controls perceive less illusions by increasing visual cortex excitability through anodal tDCS [1]. Aim: to evaluate if, due to cortical hyperexcitability, differences in SIFI occur in migraine and further changes can be found across migraine cycle, migraine chronification an drug overuse. Methods: we enrolled 64 patients with episodic migraine, 32 w…
SHORT-TERM SYNAPTIC PLASTICITY IN MIGRAINE MOTOR CORTEX: EVIDENCE BY PRECONDITIONING OF HIGH-FREQUENCY REPETITIVE TRANSCRANIAL MAGNETIC STIMULATION (…
2011
Background: Brief 5Hz repetitive transcranial magnetic stimulation (rTMS) trains at 120% of the resting- motorthreshold (RMT) intensity determine in healthy subjects a potentiation of motor evoked potentials (MEPs), likely due to short-term presynaptic plasticity facilitation. We recently showed paradoxical intensity-dependent MEP changes to 5Hz rTMS in migraine with MEP facilitation at 110% and inhibition at 130% RMT. This provides evidence of both hyper-responsivity and self-limiting hyperexcitability capacity in migraine, likely due to earlier activation of inhibitory homeostatic plasticity mechanisms. To explore this, we applied in migraineurs cathodal transcranial Direct Current Stimul…
Neuromodulation of chronic headaches: position statement from the European Headache Federation
2013
The medical treatment of patients with chronic primary headache syndromes (chronic migraine, chronic tension-type headache, chronic cluster headache, hemicrania continua) is challenging as serious side effects frequently complicate the course of medical treatment and some patients may be even medically intractable. When a definitive lack of responsiveness to conservative treatments is ascertained and medication overuse headache is excluded, neuromodulation options can be considered in selected cases.Here, the various invasive and non-invasive approaches, such as hypothalamic deep brain stimulation, occipital nerve stimulation, stimulation of sphenopalatine ganglion, cervical spinal cord sti…
Altered processing of sensory stimuli in patients with migraine.
2014
Migraine is a cyclic disorder, in which functional and morphological brain changes fluctuate over time, culminating periodically in an attack. In the migrainous brain, temporal processing of external stimuli and sequential recruitment of neuronal networks are often dysfunctional. These changes reflect complex CNS dysfunction patterns. Assessment of multimodal evoked potentials and nociceptive reflex responses can reveal altered patterns of the brain's electrophysiological activity, thereby aiding our understanding of the pathophysiology of migraine. In this Review, we summarize the most important findings on temporal processing of evoked and reflex responses in migraine. Considering these d…
Pharmacologic Approaches to CDH: Evidence and Outcomes
2018
Chronic daily headache (CDH) is a highly prevalent condition that severely affects patient’s lives. Most patients with CDH experience chronic migraine (CM). The management of these patients is complex and includes acute and preventive pharmacological treatment. In CDH, the use of acute medication should be restricted to avoid the risk of medication-overuse headache. However, the use of preventive medication should be considered in all patients with CDH. There are few studies investigating the role of preventives in CDH, and the majority have CM. Topiramate and onabotulinumtoxinA are the only two drugs with proved scientific evidence in the prevention of CM. There are other neuromodulators, …
Diagnostic and therapeutic aspects of hemiplegic migraine
2020
Hemiplegic migraine (HM) is a clinically and genetically heterogeneous condition with attacks of headache and motor weakness which may be associated with impaired consciousness, cerebellar ataxia and intellectual disability. Motor symptoms usually last <72 hours and are associated with visual or sensory manifestations, speech impairment or brainstem aura. HM can occur as a sporadic HM or familiar HM with an autosomal dominant mode of inheritance. Mutations in CACNA1A, ATP1A2 and SCN1A encoding proteins involved in ion transport are implicated. The pathophysiology of HM is close to the process of typical migraine with aura, but appearing with a lower threshold and more severity. We review…