Handbook of clinical neurology
-
Anti-NMDA receptor encephalitis is a newly characterized severe neuroautoimmune syndrome with a progressive, clinical course. Most often seen in females, it usually begins with a prodromal phase suggestive of an acute or subclinical upper respiratory tract infection that lasts for up to 2 weeks. This is followed by a psychotic and seizure phase in which the child may rapidly develop seizures, behavioral changes, and, less commonly in children, psychiatric symptoms, resulting in frequent misdiagnoses. ⋯ Relapses in children may be multiple and occur in 20-25% of cases. Recovery is slow and may take 3 years or longer. Even so, the child may not always regain its premorbid level of health.
-
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.
-
Multiple system atrophy (MSA) is a sporadic and fatal α-synuclein-linked oligodendrogliopathy manifesting with progressive autonomic failure, poorly levodopa-responsive parkinsonism, and cerebellar ataxia, in any combination. Here we review key aspects of MSA integrating important insights from rapidly emerging fields such as genetics, diagnostic work-up including imaging, and translational therapies aimed at disease modification.
-
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.
-
A variety of noninvasive brain stimulation techniques have been used to study neuronal plasticity. Mostly, noninvasive techniques have been employed, and the bulk of studies have focused on the motor system, because its physiology is more readily accessible and physiological properties can be studied with greater detail than in other systems. ⋯ Several of the phenomena induced by noninvasive brain stimulation have been mapped on to cellular physiological mechanisms such as synaptic long-term potentiation or long-term depression. Although some parallelisms are intriguing, this approach has also its limitations, and more direct verification of physiological phenomena by animal studies is needed.