Rev Neurol France
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The most frequent ophthalmologic sign in multiple sclerosis (MS) is optic neuritis (ON), but internuclear ophthalmoplegia, nystagmus, and ocular motor nerve palsies are also observed. This paper describes the most important signs suggesting an inflammatory origin of ON, most particularly MS. We detail new laboratory exams such as optic coherence tomography (OCT), which could be of potential interest for MS patients. Finally, we summarize the prognosis factors for disability in MS after a first episode of ON.
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Congenital insensitivity to pain (CIP) is a rare syndrome with various clinical expressions, characterized by a dramatic impairment of pain perception since birth. In the 1980s, progress in nerve histopathology allowed to demonstrate that CIP was almost always a manifestation of hereditary sensory and autonomic neuropathies (HSAN) involving the small-calibre (A-delta and C) nerve fibres which normally transmit nociceptive inputs along sensory nerves. Identification of the genetic basis of several clinical subtypes has led to a better understanding of the mechanisms involved, emphasizing in particular the crucial role of nerve growth factor (NGF) in the development and survival of nociceptors. ⋯ This radical impairment of nociception mirrors the hereditary pain syndromes associated with "gain of function" mutations of the same ion channel, such as familial erythromelalgia and paroxysmal extreme pain disorder. Future research with CIP patients may identify other proteins specifically involved in nociception, which might represent potential targets for chronic pain treatment. Moreover, this rare clinical syndrome offers the opportunity to address interesting neuropsychological issues, such as the role of pain experience in the construction of body image and in the empathic representation of others' pain.
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The purpose of the treatment of autoimmune myasthenia gravis is to directly improve neuromuscular transmission, and also to reduce the production or presence of the nicotinic acetylcholine receptor (achR). Acetylcholinesterase inhibitors are the first line treatment with the rapid onset of effect, for all types of myasthenia gravis (ocular, generalized myasthenia gravis, seronegative or seropositive patients). Plasmapheresis or intravenous immunoglobulin (IVIg) is the treatment for exacerbations. ⋯ Corticosteroids are considered a major treatment of myasthenia gravis but the doses and periods of time are still being debated. The combination of corticosteroids and immunosuppressive agents are recommended early to spare corticosteroids. The treatment of myasthenia gravis should be modulated regularly (minimal doses for example).
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Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Advances in imaging and genetics have improved the diagnosis and classification of these conditions. Up to now, eight genes have been involved in different types of MCD. ⋯ Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. It is possible to infer the most likely causative gene by brain imaging studies and other clinical findings. Based on this experience, a detailed phenotype analysis is needed to develop the most efficient research on MCD in the future.
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Headache often accompanies acute ischemic stroke. Observational studies indicate that 15 to 40% of patients with acute ischemic stroke report headache in close temporal relation to the event. ⋯ Transient ischemic attacks (TIA) can also lead to headache. The pathophysiology of headache associated with acute ischemic stroke includes edema, hemorrhagic transformation, and changes in the trigeminovascular system.