Handbook of clinical neurology
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Joubert syndrome (JS) is a rare autosomal recessive condition characterized by a peculiar midbrain-hindbrain malformation, known as the molar tooth sign (MTS). The neurological presentation of JS includes hypotonia that evolves into ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities. This picture is often associated with variable multiorgan involvement, mainly of the retina, kidneys, and liver, defining a group of conditions termed Joubert syndrome and related disorders (JSRDs), that share the MTS. ⋯ Indeed, JSRD present clinical and genetic overlap with a growing field of disorders due to mutations in ciliary proteins, that are collectively known as "ciliopathies." These include isolated nephronophthisis, Senior-Løken syndrome, Bardet-Biedl syndrome and, in particular, Meckel syndrome, which is allelic at JSRD at seven distinct loci. Significant genotype-phenotype correlates are emerging between specific clinical presentations and mutations in JSRD genes, with relevant implications in terms of molecular diagnosis, clinical follow-up, and management of mutated patients. Moreover, the identification of mutations allows early prenatal diagnosis in couples at risk, while fetal neuroimaging may remain uninformative until the late second trimester of pregnancy.
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Tourette syndrome is a neuropsychiatric disorder characterized by motor and vocal tics, often associated with behavioral disorders, with typical onset in early childhood. In most patients, the symptoms decrease spontaneously when adulthood is reached, or can be treated with behavioral therapy or medication. Only a small proportion of patients are candidates for surgical treatment. ⋯ Current knowledge of cortical-basal ganglia-thalamocortical circuits provides explanations for the beneficial effects of DBS on tics. Inclusion and exclusion criteria have been formulated to identify good candidates for DBS. Because of the small number of patients, there is a strong need for multicenter double-blind trials with standard protocols.
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Several countries have adopted laws that regulate physician assistance in dying. Such assistance may consist of providing a patient with a prescription of lethal medication that is self-administered by the patient, which is usually referred to as (physician) assistance in suicide, or of administering lethal medication to a patient, which is referred to as euthanasia. The main aim of regulating physician assistance in dying is to bring these practices into the open and to provide physicians with legal certainty. ⋯ Arguments against the legal regulation of physician assistance in dying include principled arguments, such as the wrongness of hastening death, and arguments that emphasize the negative consequences of allowing physician assistance in dying, such as a devaluation of the lives of older people, or people with chronic disease or disabilities. Opinion polls show that some form of accepting and regulating euthanasia and physician assistance in suicide is increasingly supported by the general population in most western countries. Studies in countries where physician assistance in dying is regulated suggest that practices have remained rather stable in most jurisdictions and that physicians adhere to the legal criteria in the vast majority of cases.
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The advent of magnetic resonance imaging (MRI) has contributed to increase the interest and awareness in childhood white matter disorders. Pediatric inflammatory demyelinating diseases of the central nervous system (CNS) are clinically heterogeneous with respect to their mode of presentation, clinical severity, rate of progression, and prognosis. Acute disseminated encephalomyelitis (ADEM) is an immune-mediated inflammatory disorder of the CNS, typically transitory and self-limiting. ⋯ The occurrence of relapses in children with ADEM poses diagnostic difficulties in its differentiation from multiple sclerosis (MS) and neuromyelitis optica (NMO). With the widespread use of high-dose steroids, the long-term prognosis of ADEM with regard to functional and cognitive recovery is favorable. This chapter summarizes the available literature on ADEM in children, including the proposed consensus definitions for its monophasic and relapsing variants.
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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.