Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
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Familial hemiplegic migraine (FHM) is the only migraine subtype for which a monogenic mode of inheritance, autosomal dominant has been clearly established. It is genetically heterogeneous and at least three different genes exist (CACNA1A, ATP1A2, and SCN1A), the so-called FHM1, FHM2, and FHM3 genes, respectively. Sporadic hemiplegic migraine (SHM) is a disorder, in which some patients may have their pathophysiology identical to FHM, but others, possibly the majority, may have different pathophysiology, probably related to the mechanisms of typical migraine with aura. ⋯ Only in three patients, 2 sporadic and 1 familial cases, we have described genetic mutations, all of them in the ATP1A2 gene. In our opinion, these results demonstrate a more frequent involvement of the ATP1A2 gene not only in the sporadic form, but probably also in the Italian FHM patients without permanent cerebellar signs. Moreover, the absence of CACNA1A, ATP1A2 and SCN1A mutations in the other 12 familial cases suggests the involvement of still unknown genes.
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Thunderclap headache (TCH) is a head pain that begins suddenly and is severe at onset; TCH might be the first sign of different neurological illnesses, and primary TCH is diagnosed when no underlying cause is discovered. Patients with TCH who have evidence of reversible, segmental, cerebral vasoconstriction of circle of Willis arteries and normal or near-normal results on cerebrospinal fluid assessment are thought to have reversible cerebral vasoconstriction syndrome (RCVS). Herein, we discuss the differential diagnosis of TCH and offer pathophysiological considerations for TCH and RCVS.
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On March 15th 2010, Italy adopted the Law no. 38 "Disposizioni per garantire l'accesso alle cure palliative e alla terapia del dolore" (Provisions aimed at ensuring access to palliative care and pain therapy). The aim of pain therapy is to enable patients with chronic diseases to achieve pain control. Palliative care, as defined by the World Health Organization, aims at "improving the quality of life of patients and families, who face the problems associated with incurable diseases, through prevention and relief from suffering, achieved through an early identification and treatment of pain by pharmacological medication and other physical, psychosocial and spiritual techniques". ⋯ Regarding the headaches, it should be noted that the law 38 cited above includes all forms of pain, and headaches should be integrated into the care networks. In this context, several multi-disciplinary professionals within the centers (hub and spoke) or territory (GPs, specialists from neurologists and other professionals involved) should be integrated to offer the best response to the needs of the citizen. The diagnosis and treatment of various forms of headache have to be integrated into the path of pain, both National and Regional, in line with the rest of the organization.
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Case Reports
Widespread urticaria due to intramuscular interferon beta-1a therapy for multiple sclerosis.
We describe two multiple sclerosis patients who displayed widespread urticaria due to intramuscular interferon beta-1a (INF-β-1a). Clinicians should be aware of this adverse event, since it may be severe and it may lead to the definitive interruption of treatment. Widespread urticaria complicating intramuscular INF-β-1a therapy in multiple sclerosis should be therefore added to the list of dermatological lesions associated with interferon therapy.
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Uric acid (UA) is an endogenous antioxidant. Some studies have described that multiple sclerosis (MS) patients have lower serum UA levels than controls, although it has not been established whether UA is primarily deficient, or secondarily reduced due to its scavenging activity. UA has also been proposed as an indicator of disease activity. ⋯ UA levels were significantly lower when measured during a relapse (n 90) than in a remission period (n 368) (r -0.16, p 0.003) UA levels measured outside a relapse inversely correlated with EDSS score (r -0.15, p 0.001). Lower uric acid levels in MS patients are associated with clinical relapse. This is the first description of an inverse correlation of serum UA levels with disability as assessed by EDSS score.