Rev Neurol France
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Migraine with aura is well known to be associated with an increased risk of ischemic stroke. This risk dramatically increases in smokers and uses of oral contraceptives. Brain MRI studies suggest that migraine is associated with silent brain infarcts. ⋯ A prothrombotic state in migraine is also another possible explanation due to genetic polymorphisms. Appropriate management for primary vascular prevention in migraineurs is not different from that proposed for the general population. Oral contraceptives should be avoided in migraineurs with aura, especially if they smoke.
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The aim of genetic studies in migraine is to identify key proteins in order to better understand the molecular mechanisms of this frequent but still incompletely understood condition. This review describes the current knowledge in the field of migraine genetics. Migraine genes have been, and still are, difficult to identify. ⋯ Three of the four polymorphisms are associated both with migraine without aura and migraine with aura, supporting the existence of molecular mechanisms shared by all varieties of migraine. The vast majority of the migraine genes are still to be identified. Future researches will rely on new GWAS on larger cohorts of patients and controls, with a better phenotypic assessment, and on extensive sequencing.
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Observational studies indicate an increased prevalence of patent foramen ovale (PFO) in migraineurs with aura and an increased prevalence of migraine and migraine with aura in patients with PFO but a recent stratified meta-analysis does not support pairwise association between PFO and migraine. There are conflicting data regarding causal relationship between these two conditions. According to recent studies, microembolization might provoke a decrease in cerebral oxygen saturation, thus triggering cortical spreading depression and, thereafter, migraine with aura attack. ⋯ The MIST study is the only prospective study available with a good design but this study gave a negative response about cure of migraine with aura and revealed a high morbidity for such a benign condition. Although PFO closure sometimes appears to affect migraine patterns favorably, the very low grade of available evidence to support this association precludes definitive conclusions. To date, PFO closure in migraineurs with aura is not recommended in daily practice.
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Review
Rare neurological diseases: a Pandora's box for neurology (an European and Italian perspective).
Rare neurological diseases are a heterogeneous group of disorders mainly affecting the central and peripheral nervous systems and muscle, representing almost 50% of all rare diseases; this means that neurologists are among the main specialists involved in their diagnosis and research. However, the classical interest of neurologists is primarily directed towards the more common diseases such as dementia, multiple sclerosis, headache, epilepsy and stroke, while avoiding the follow-up of rare neurological diseases that have, taken altogether, had such a major impact on health systems in Europe as well as in other countries around the world. Rare diseases are also considered 'orphan' diseases, as only a few of them have treatments. ⋯ In fact, the difficulty of diagnosis and the need for super-specialization in this field has led to the organization of dedicated centers in different countries to collect patients' data within a network for diagnosis, treatment and research. The present report describes our experience in Siena with such a reference center for these disorders and their diagnosis and treatment, and also includes a discussion of the organization of care for rare neurological diseases in Europe and Italy. Finally, this report also covers the new initiative of the Italian Neurological Society to promote an information center for rare neurological diseases to disseminate information and knowledge to all neurologists working in this field.
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The multidisciplinary care of amyotrophic lateral sclerosis (ALS) patients in clinics with expertise in the disease was created in the 1980s and 1990 s specifically to manage the severe functional impairment caused by the disorder. This specialized care for both diagnosis and management led to the creation of the ALS centers. ⋯ French ALS centers are now 10 years old, and their efficient national coordination has provided an improved and homogeneous care delivery in our country, while their recommendations for care have been published both nationally and internationally. Several studies have indicated positive effects on ALS patients'survival after attending ALS centers and receiving such specialized palliative treatments as assisted ventilation.