Handbook of clinical neurology
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Fabry disease results from deficient activity of the enzyme α-galactosidase A and progressive lysosomal deposition of globotriaosylceramide (GL-3) in cells throughout the body. The main neurological presentations of Fabry disease patients are painful neuropathy, hypohidrosis, and stroke. Fabry neuropathy is characterized as a length-dependent peripheral neuropathy affecting mainly the small myelinated (Aδ) fibers and unmyelinated (C) fibers. ⋯ Early initiation of ERT before irreversible organ failure is extremely important, and alternative therapeutic approaches are currently being explored. Heterozygotes suffer from peripheral neuropathy at a higher rate than previously shown, significant multisystemic disease, and severely decreased quality of life. As well as being carriers, heterozygotes also display symptoms of Fabry disease, and should be carefully monitored and given adequate therapy.
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Peripheral neuropathies are the most common neurological manifestations occurring in HIV-infected individuals. Distal symmetrical sensory neuropathy is the most common form encountered today and is one of the few that are specific to HIV infection or its treatment. The wide variety of other neuropathies is akin to the neuropathies seen in the general population and should be managed accordingly. ⋯ One is left with cannabis, which cannot be recommended as routine therapy, recombinant human nerve growth factor, which is unavailable, and topical capsaicin with its side-effects. Much has been done to and learned from HIV infection in humans; HIV-infected individuals, treated with ART, are now dying mostly from cardiovascular disease and non-AIDS-related cancers. It hence behooves us to find new approaches to mitigate the residual neurological morbidity that still impacts the quality of life of that population.
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Essential tremor is the most common tremor disorder and is characterized by a postural and kinetic tremor. Most commonly, the disease involves the upper extremities, although other body parts may be affected. Essential tremor is seen most often in adults and may markedly limit abilities to perform daily activities. ⋯ Unilateral VIM DBS may also improve head and voice tremor, although most commonly bilateral stimulation is required for adequate control. However, bilateral thalamic stimulation is associated with a higher incidence of neurological deficits, particularly speech and gait problems. Investigations of DBS of other brain target areas for essential tremor, such as the posterior subthalamic area and the subthalamic nucleus, are ongoing.
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The few reported controlled studies show that bilateral stimulation of the globus pallidus interna (GPi) is a safe and effective long-term treatment for hyperkinetic disorders. However, the recently published data on deep brain stimulation (DBS) applied to different targets or patients (especially those with secondary dystonia) are mainly uncontrolled case reports, precluding a clear determination of its efficacy, and providing little guidance as to the choice of a "good" target in a "good" patient. This chapter reviews the literature on DBS in primary dystonia, paying particular attention to the risk:benefit ratio in focal and segmental dystonias (cervical dystonia, cranial dystonia) and to the predictive factors for a good outcome. ⋯ This chapter provides a comprehensive analysis of the use of the treatment in various types of secondary dystonia, with little to moderate benefit in most cases, based on single cases or small series. Beyond the reduction in the severity of dystonia, the global motor and functional outcome is difficult to determine owing to the paucity of adequate evaluation tools. Because of the large interpatient variability, different targets may be effective depending on the symptoms in each individual.
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Review Historical Article
The surgery of peripheral nerves (including tumors).
Surgical pathology of the peripheral nervous system includes traumatic injury, entrapment syndromes, and tumors. The recent significant advances in the understanding of the pathophysiology and cellular biology of peripheral nerve degeneration and regeneration has yet to be translated into improved surgical techniques and better outcome after peripheral nerve injury. ⋯ Surgery continues to be the primary treatment modality for peripheral nerve tumors and advances in adjuvant oncological treatment has improved outcome after malignant peripheral nerve tumors. The present chapter provides background knowledge of surgical peripheral nerve disease and some general and practical guidance toward its clinical management.