Lancet neurology
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Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained about functional consequences of ATP1A3 mutations using a range of in-vitro and animal model systems, and the role of Na(+)/K(+)-ATPases in the brain. Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.
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Most in-hospital deaths of patients with stroke, traumatic brain injury, or postanoxic encephalopathy after cardiac arrest occur after a decision to withhold or withdraw life-sustaining treatments. Decisions on treatment restrictions in these patients are generally complex and are based only in part on evidence from published work. Prognostic models to be used in this decision-making process should have a strong discriminative power. ⋯ These decisions are also complicated because patients often do not have the capacity to communicate their preferences. Additionally, surrogate decision makers might not accurately represent the patient's preferences. Finally, in the acute stage, prediction of how a patient would adapt to a life with major disability is difficult.
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The most common neuropsychiatric outcomes of stroke are depression, anxiety, fatigue, and apathy, which each occur in at least 30% of patients and have substantial overlap of prevalence and symptoms. Emotional lability, personality changes, psychosis, and mania are less common but equally distressing symptoms that are also challenging to manage. ⋯ There are important gaps in knowledge about how to manage these disorders, even for depression, which is the most studied syndrome. Further research is needed to identify causes and interventions to prevent and treat these disorders.
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The effects of ATXN2 expansion on the nervous system arise before the cerebellar syndrome can be diagnosed; however, progression of the underlying early clinical manifestations is unknown. We aimed to assess progression of the main clinical features in early stages of the spinocerebellar ataxia type 2 (SCA2). ⋯ Cuban Ministry of Public Health.