A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study.

Background: Migraine is a multifactorial disorder that is more frequent (two to four times) in women than in men. In recent years, our research group has focused on the role of neurotransmitter release and its regulation. Neurexin (NRXN2) is one of the components of the synaptic vesicle machinery, responsible for connecting intracellular fusion proteins and synaptic vesicles.

[Chronic and Refractory Migraine: How to Diagnose and Treat].

Migraine is highly prevalent and carries a significant personal, social and economic burden. It is the second cause of disability (years living with disability) worldwide and the first cause under 50 years of age. Chronic migraine (occurring for more than 15 days a month) and refractory migraine (treatment resistant), especially when there is also analgesic overuse, are the most disabling forms of migraine.

Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility - A Case-Control Association Study.

Objective: A number of observations, including among our study population, have implicated variants in the syntaxin-1A, a component of the synaptic vesicles, in migraine susceptibility. Therefore, we hypothesize that variants in other components of the vesicle machinery are involved in migraine.

Background: Migraine is a common and complex neurologic disorder that affects approximately 15-18% of the general population.

CADASIL: MRI may be normal in the fourth decade of life - a case report.

Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) manifests by migraine with aura, cerebral ischemic events, mood disturbances and dementia. Brain MRI lesions typically precede the symptoms from 10 to 15 years and previous evidence showed all CADASIL patients above 35 years old have an abnormal MRI, supporting the clinical diagnosis. Case results We present a 37-year-old female patient with migraine without aura, a family history of CADASIL, normal brain 3-Tesla MRI and normal skin biopsy, even though a pathogenic NOTCH3 gene mutation (allele 2, exon 11, c.

SUNCT syndrome: A cohort of 15 Portuguese patients.

Background: In this paper, we describe a cohort of patients with short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT), a rare trigeminal autonomic headache, managed in the outpatient clinic of a tertiary hospital.

Methods: Patients were identified through review of individual records between January 1, 2008 and June 30, 2014.

Results: Fifteen patients were identified (eight males:seven females), with mean age at onset of 49.

Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley.

Background: SCN1A is the most relevant gene in epilepsy. Only seven SCN1A mutations have been identified in 10 familial hemiplegic migraine (FHM) kindreds worldwide.

Cases And Kindreds: In 2009, we presented a kindred with FHM due to the L263V SCN1A mutation.

Monozygotic twin sisters discordant for familial hemiplegic migraine.

Background: The high concordance rate of migraine in monozygotic twin pairs has long been recognised. In the current study, we present a monozygotic twin pair discordant for familial hemiplegic migraine (FHM).

Case Presentations: We evaluated 12 adult family members in 2012.

Interaction between γ-aminobutyric acid A receptor genes: new evidence in migraine susceptibility.

Migraine is a common neurological episodic disorder with a female-to-male prevalence 3- to 4-fold higher, suggesting a possible X-linked genetic component. Our aims were to assess the role of common variants of gamma-aminobutyric acid A receptor (GABAAR) genes, located in the X-chromosome, in migraine susceptibility and the possible interaction between them. An association study with 188 unrelated cases and 286 migraine-free controls age- and ethnic matched was performed.

Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.

Objective: To document and discuss the broad phenotypic variability in a Portuguese family with cerebellar ataxia, hemiplegic migraine, and related syndromes caused by missense mutation c.1748 (p.R583Q) in the CACNA1A gene.

Assessing risk factors for migraine: differences in gender transmission.

Aim: Our aim was to assess which specific factors are contributing to an increased risk of migraine in a group of 131 Portuguese families.

Methods: We studied 319 first-degree relatives, using a multilevel approach to account for the dependency among members from the same family. We included in the model relative's gender, the proband's gender and age-at-onset, to evaluate if any of these variables were associated with relative's affection status.

Migraine-induced epistaxis and sporadic hemiplegic migraine: unusual features in the same patient.

Background: Since the mid-19th century, epistaxis and migraine have been occasionally associated with each other. Nevertheless, we found only two cases in the contemporary medical literature. Sporadic hemiplegic migraine is a subtype of migraine with reversible motor deficits, without similar episodes in relatives.

Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2).

Introduction: Neuropsychological symptoms are rare in familial hemiplegic migraine (FHM). There are no reports of psychotic symptoms in FHM type 2 (ATP1A2). We examined a family with a FHM phenotype due to a M731T mutation in ATP1A2.

Sporadic hemiplegic migraine with normal imaging as the initial manifestation of CADASIL.

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can be present with negative family history and, especially in younger patients, with normal brain magnetic resonance. For this reason, those CADASIL patients that present only with migraine may be misdiagnosed. In the case of migraine with motor aura, sporadic hemiplegic migraine (SHM) is one of the possible misdiagnoses.

BDNF and CGRP interaction: implications in migraine susceptibility.

Objectives: Migraine pathophysiology involves several pathways. Our aims were to explore a possible role of the brain-derived neurotrophic factor gene (BDNF) in migraine susceptibility; to study, for the first time, the calcitonin gene-related peptide gene (CGRP); and a possible interaction between the two.

Methods: Using a case-control approach, four tagging single nucleotide polymorphisms (SNPs) (rs7124442, rs6265, rs11030107, and rs2049046) of BDNF and one tagging SNP-rs1553005-of CGRP were analyzed in 188 cases and 287 controls.

A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.

Migraine with aura is a common, debilitating, recurrent headache disorder associated with transient and reversible focal neurological symptoms. A role has been suggested for the two-pore domain (K2P) potassium channel, TWIK-related spinal cord potassium channel (TRESK, encoded by KCNK18), in pain pathways and general anaesthesia. We therefore examined whether TRESK is involved in migraine by screening the KCNK18 gene in subjects diagnosed with migraine.

Evidence of syntaxin 1A involvement in migraine susceptibility: a Portuguese study.

Objective: To confirm syntaxin 1A as a risk factor for migraine, given that syntaxin 1A interacts with several factors in migraine pathophysiology.

Design: Case-control approach.

Setting: An outpatient clinic.

Guidelines for telematic second opinion consultation on headaches in Europe: on behalf of the European Headache Federation (EHF).

The seeking of a second opinion is the long-established process whereby a physician or expert from the same or a similar specialty is invited to assess a clinical case in order to confirm or reject a diagnosis or treatment plan. Seeking a second opinion has become more common in recent years, and the trend is associated with significant changes in the patient-doctor relationship. Telemedicine is attractive because it is not only fast but also affordable and thus makes it possible to reach highly qualified centres and experts that would otherwise be inaccessible, being impossible, or too expensive, to reach by any surface transport.

The C677T polymorphism in MTHFR is not associated with migraine in Portugal.

Migraine is a debilitating disorder affecting a large proportion of the population. The effect of methylenetetrahydrofolate reductase (GeneID: 4524) polymorphisms in migraine etiology and development has been a theme of great interest. Several populations were evaluated with contradictory results.

Familial clustering of migraine: further evidence from a Portuguese study.

Objective: Our aim was to evaluate familial aggregation of migraine in a large group of Portuguese families, and to assess if familial aggregation differs between MA and MO.

Methods: Familial aggregation was evaluated by estimating relative risk (RR) of migraine in 143 first-degree relatives of 50 probands with MA, in 196 first-degree relatives of 94 probands with MO and also in proband's spouses. Probands were enrolled in the study from a clinical sample and a population sample was used as reference.

Divergent sodium channel defects in familial hemiplegic migraine.

Familial hemiplegic migraine type 3 (FHM3) is a severe autosomal dominant migraine disorder caused by mutations in the voltage-gated sodium channel Na(V)1.1 encoded by SCN1A. We determined the functional consequences of three mutations linked to FHM3 (L263V, Q1489K, and L1649Q) in an effort to identify molecular defects that underlie this inherited migraine disorder.

Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.

Familial hemiplegic migraine is a rare autosomal dominant subtype of migraine with aura. Three genes have been identified, all involved in ion transport. There is considerable clinical variation associated with FHM mutations.