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Headache
Published in Vincenzo Berghella, Maternal-Fetal Evidence Based Guidelines, 2022
Stephen Silberstein, Shuhan Zhu
Migraine is a group of familial disorders with a genetic component. Familial hemiplegic migraine (FHM) is a group of autosomal dominant disorders associated with attacks of migraine, with and without aura, and hemiparesis [6]. FHM1 accounts for approximately two-thirds of cases and is due to at least 10 different missense mutations in the CACNA1A gene, which codes for the α1-subunit of a voltage dependent P/Q Ca2+ channel. FHM2 results from a new mutation in the α2-subunit of the Na/K pump. FHM3 is due to a missense mutation in gene SCN1A (Glnl489Lys), which encodes an α1-subunit of a neuronal voltage-gated Na+ channel (Navl.l)
Vestibular Migraine
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Migraine is well recognized as a familial disorder and there are documented pedigrees of families with VM.19 Rare forms of migraine where there are associated neuro-otological findings have a simple Mendelian inheritance with specified identified mutations (familial hemiplegic migraine Types 1–4 with mutations in CACNA1A, ATP1A and SCN1A and the episodic ataxias Types 1–7 with mutations in KCNA1 and CACNA1A). These data suggest that migraine and its neurological manifestations are mostly likely ionopathies. However, a single genetic mutation for common forms of migraine, including VM, remains elusive, despite extensive work in this area. Genome-wide association studies have identified several candidate variations for common migraine, but the pathological significance of these is yet to be confirmed.20–22 Cortical spreading waves of depression of Leao are thought to be analogous to the aura symptoms of migraine.23 Such a phenomenon affecting brainstem structures such as the vestibular nuclei has been proposed to account for some types of episodes of migraine-associated vertigo.24 However, this theory does not account for all the clinically observed features of VM, including the time course of attacks that commonly last for several hours or days.
Headache associated with vascular disease: migraine and stroke
Published in Stephen D. Silberstein, Richard B. Upton, Peter J. Goadsby, Headache in Clinical Practice, 2018
Stephen D. Silberstein, Richard B. Upton, Peter J. Goadsby
CADASIL, an inherited arterial disease of the brain,73 and familial hemiplegic migraine both map to chromosome 19.74 Familial hemiplegic migraine is distinguished from CADASIL by its early onset, relatively benign prognosis, and normal magnetic resonance imaging (MRI) findings. The main clinical presentation of CADASIL is recurrent sub-cortical ischemic events, either transient or (more often) permanent.75 The vascular presentation is not constant and other symptoms, such as dementia, depression, or migraine with aura, can occur. Although these symptoms are usually associated with a history of recurrent strokes, they may be the prominent, or only, manifestation of the disease. Vascular dementia is found in one-third of affected family members and as many as 90% of subjects before death. Attacks of migraine with aura occur in 22% of cases, while its prevalence in the general population is about 6% (see Chapter 6).
Migraine pathways and the identification of novel therapeutic targets
Published in Expert Opinion on Therapeutic Targets, 2020
Innocenzo Rainero, Fausto Roveta, Alessandro Vacca, Cecilia Noviello, Elisa Rubino
In the last two decades, molecular genetic studies have provided considerable insights into the molecular mechanisms of migraine, suggesting new therapeutic targets. First of all, Familial Hemiplegic Migraine (FHM), a rare MA subtype characterized by an autosomal dominant transmission of the phenotype and presence of transient motor deficits, has been associated with mutations in three different genes, CACNA1A, ATP1A2, and SCN1A, coding for protein linked to ion channels functions [44–46]. In addition, investigating families with rare, monogenic forms of migraine, pathogenic variants in other genes, as KCNK18, PRRT2, PNKD, SLC2A1, SLC1A3, and SLC4A4 have been demonstrated [47,48]. In the more common form of migraine, candidate gene association studies showed that more than 200 genetic variants in approximately 100 different genes may be associated or influence the clinical characteristics of the disease [49]. However, these studies often report conflicting results and have been rarely replicated. Finally, several genome-wide association studies (GWAS) provided evidence that numerous single-nucleotide polymorphisms (SNPs), and related genes, are significantly associated with migraine and its clinical variants. The most recent meta-analysis combined the data from 22 GWAS, comprising 59,674 migraine cases from clinic- and population-based collections as well as 316,078 controls [50]. This study demonstrated that 44 independent SNPs at 38 distinct genomic loci are significantly associated with migraine, providing new molecular insight into the molecular pathways of migraine.
An update on EEG in migraine
Published in Expert Review of Neurotherapeutics, 2019
In familial hemiplegic migraine, coexistence of epilepsy is possible, although EEG may be free of epileptic abnormalities. In this rare disease, unspecific EEG abnormalities, such as diffuse or lateralized abnormal slow activity, persist in the follow-up recordings. However, they remain stable over time and do not have a prognostic valence for clinical outcome(s) [15,16] (Table 1). Considering the lack of randomized controlled studies investigating the clinical valence of spontaneous EEG in the differential diagnosis between epileptic seizures or transient neurological deficit and migraine with aura subtypes, we can conclude that there is insufficient evidence supporting the utility of EEG, even in patients with basilar and hemiplegic migraine.
Do we need to reconsider the classification of vestibular migraine?
Published in Expert Review of Neurotherapeutics, 2021
Patricia Perez-Carpena, Jose A. Lopez-Escamez
A recent study has described a mutation in PRRT2 that could be linked to familial hemiplegic migraine (FHM) [100]. Although there is little evidence on the field, the description of families presenting both FHM and common migraine suggests a common pathophysiology for both conditions. However, no evidence of an association of these genes has been found in VM.