Handbook of clinical neurology
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Skin biopsy with a 3mm disposable circular punch is easy to perform and allows, after proper processing, the visualization of epidermal, dermal, and sweat gland nerve fibers. A technique of sampling the epidermis alone by applying a suction capsule, the "blister" technique, has also been developed. It is most common to stain immunohistochemically for the pan-axonal marker protein gene product 9.5 (PGP 9.5), an ubiquitin C-terminal hydroxylase. ⋯ In several hereditary neuropathies intraepidermal nerve fiber density may be reduced but other abnormalities can also be demonstrated in dermal myelinated fibers. Some small swellings and varicosities may be present in the distal leg skin biopsy of healthy individuals but large axonal swellings are considered as evidence of a pathological process affecting the normal structure of nerves. The indirect immunofluorescence technique with confocal microscopy provides the opportunity to study the complex structure of sensory receptors and cutaneous myelinated fibers and the innervation of sweat glands, arrector pilorum muscles, and vessels.
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Epilepsies associated with inborn errors of metabolism (IEM) represent a major challenge. Seizures rarely dominate the clinical presentation, which is more frequently associated with other neurological symptoms, such as hypotonia and/or cognitive disturbances. Although epilepsy in IEM can be classified in various ways according to pathogenesis, age of onset, or electroclinical presentation, the most pragmatic approach is determined by whether they are accessible to specific treatment or not. ⋯ Folinic acid-dependent seizures are allelic with pyridoxine dependency. Incompletely treatable IEMs include pyridoxal phosphate, serine, and creatine deficiencies. The main IEMs that present with epilepsy but offer no specific treatment are nonketotic hyperglycinemia, mitochondrial disorders, sulfite oxidase deficiency, ceroid-lipofuscinosis, Menkes disease, and peroxisomal disorders.
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Invasive stimulation of the motor (precentral) cortex using surgically implanted epidural electrodes is indicated for the treatment of neuropathic pain that is refractory to medical treatment. Controlled trials have demonstrated the efficacy of epidural motor cortex stimulation (MCS), but MCS outcome remains variable and validated criteria for selecting good candidates for implantation are lacking. Repetitive transcranial magnetic stimulation (rTMS) is a noninvasive approach that could be used as a preoperative tool to predict MCS outcome and also could serve as a therapeutic procedure in itself to treat pain disorders. ⋯ The most studied target is the precentral cortex, but other targets, such as the prefrontal and parietal cortices, could be of interest. The analgesic effects of cortical stimulation relate to the activation of various circuits modulating neural activities in remote structures, such as the thalamus, limbic cortex, insula, or descending inhibitory controls. In addition to the treatment of refractory neuropathic pain by epidural MCS, new developments of this type of strategy are ongoing, for other types of pain syndrome and stimulation techniques.
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Tinnitus is a common disorder and traditional treatment approaches such as medication, active or passive sound enhancement, and cognitive behavioral therapy have limited efficacy. Thus, there is an urgent need for more effective treatment approaches. Functional imaging studies in patients with tinnitus have revealed alterations in neuronal activity of central auditory pathways, probably resulting as a consequence of sensory deafferentation. ⋯ Transcranial direct current stimulation (tDCS) has also shown potential for the treatment of tinnitus. Both auditory and frontal tDCS have shown tinnitus reduction in a subgroup of patients. In spite of the promising results of the different brain stimulation approaches, further research is needed before these techniques can be recommended for routine clinical use.
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To most doctors, brachial and lumbosacral plexopathies are known as difficult disorders, because of their complicated anatomy and relatively rare occurrence. Both the brachial, lumbar, and sacral plexuses are extensive PNS structures stretching from the neck to axillary region and running in the paraspinal lumbar and pelvic region, containing 100000-200000 axons with 12-15 major terminal branches supplying almost 50 muscles in each limb. The most difficult part in diagnosing a plexopathy is probably that it requires an adequate amount of clinical suspicion combined with a thorough anatomical knowledge of the PNS and a meticulous clinical examination. ⋯ The most common cause of brachial plexopathy is probably neuralgic amyotrophy and the most common cause of lumbosacral plexopathy is diabetic amyotrophy. Traumatic and malignant lesions are fortunately rarer but just as devastating. This chapter provides an overview of both common and rarer brachial and lumbosacral plexus disorders, focusing on clinical examination, the use of additional investigative techniques, prognosis, and treatment.