Handbook of clinical neurology
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This chapter considers the use of central thalamic deep brain stimulation (CT/DBS) to support arousal regulation mechanisms in the minimally conscious state (MCS). CT/DBS for selected patients in a MCS is first placed in the historical context of prior efforts to use thalamic electrical brain stimulation to treat the unconscious clinical conditions of coma and vegetative state. ⋯ The conceptual foundations for CT/DBS in selected patients in a MCS are then presented with consideration of both circuit and cellular mechanisms underlying recovery of consciousness identified from empirical studies. Directions for developing future generalizable criteria for CT/DBS that focus on the integrity of necessary brain systems and behavioral profiles in patients in a MCS that may optimally response to support of arousal regulation mechanisms are proposed.
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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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Review
Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders.
Hereditary ataxias (HA) encompass an increasing number of degenerative disorders characterized by progressive cerebellar ataxia usually accompanied by extracerebellar semeiology including peripheral nerve involvement. Classically, HA were classified according to their pathological hallmark comprising three main forms: (1) spinal form predominantly with degeneration of spinocerebellar tracts, posterior columns, and pyramidal tracts (Friedreich's ataxia, FA); (2) olivopontocerebellar atrophy (OPCA); and (3) cortical cerebellar atrophy (CCA). In the 1980s Harding proposed a clinico-genetic classification based upon age of onset, modality of transmission, and clinical semeiology. ⋯ In this chapter we will review peripheral nerve involvement in classical pathological entities (OPCA and CCA), ARCA, ADCA, and ILOCA paying special attention to the most prevalent syndromes in each category. As a general rule, nerve involvement is relatively common in any form of ataxia except ILOCA, the most common pattern being either sensory or sensorimotor neuronopathy with a dying-back process. An exception to this rule is AR spastic ataxia of Charlevoix-Saguenay where nerve conduction studies show the characteristic pattern of intermediate neuropathy implying that sacsin mutation causes both axonal and Schwann cell dysfunction.
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Neuropathic pain is a clinical entity that presents unique diagnostic and therapeutic challenges. This chapter addresses the classification, epidemiology, pathophysiology, diagnosis, and treatment of neuropathic pain syndrome. Neuropathic pain can be distinguished from nociceptive pain based on clinical signs and symptoms. ⋯ Nonpharmacological treatments include psychological approaches, physical therapy, interventional therapy, spinal cord stimulation, and surgical procedures. Neuropathic pain is difficult to treat, but a combination of therapies may be more effective than monotherapy. Clinical practice guidelines provide an evidence-based approach to the treatment of neuropathic pain.
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End-of-life care practices and attitudes in Europe are highly diverse, which is unsurprising given the variety of cultural and religious patterns across this region. The most marked differences are in the legal and ethical stances towards assisted dying, although there are also variations in limitation of life-sustaining treatment and the authority of advance directives to decline such treatment. ⋯ Fueled by the politically led process of European harmonization, future policies and laws on end-of-life care might converge. However, at the base of many ethical conflicts there remain deeply rooted differences about promoting the sanctity of life, eradicating suffering, and respecting patients' autonomous wishes.