Can J Neurol Sci
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Early-onset familial Alzheimer's disease (EOFAD) is a condition characterized by early onset dementia (age at onset < 65 years) and a positive family history for dementia. To date, 230 mutations in presenilin (PS1, PS2) and amyloid precursor protein (APP) genes have been identified in EOFAD. The mutations within these three genes (PS1/PS2/APP) affect a common pathogenic pathway in APP synthesis and proteolysis, which lead to excessive production of amyloid β. ⋯ Studies in presymptomatic mutation carriers reveal biomarkers abnormalities. EOFAD diagnosis is based on clinical and family history, neurological symptoms and examination, biomarker features, as well as genotyping in some cases. New therapeutic agents targeting amyloid formation may benefit EOFAD individuals.
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Neuropathic pain often fails to respond to conventional pain management procedures. here we review the aetiology of neuropathic pain as would result from peripheral neuropathy or injury. We show that inflammatory mediators released from damaged nerves and tissue are responsible for triggering ectopic activity in primary afferents and that this, in turn, provokes increased spinal cord activity and the development of 'central sensitization'. Although evidence is mounting to support the role of interleukin-1β, prostaglandins and other cytokines in the onset of neuropathic pain, the clinical efficacy of drugs which antagonize or prevent the actions of these mediators is yet to be determined. basic science findings do, however, support the use of pre-emptive analgesia during procedures which involve nerve manipulation and the use of anti-inflammatory steroids as soon as possible following traumatic nerve injury.
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Non-convulsive seizures have been reported to be common in neurocritical care patients. Many jurisdictions do not have sufficient resources to enable routine continuous electroencephalography (cEEG) and instead use primarily intermittent EEG, for which the diagnostic yield remains uncertain. Determining risk factors for epileptiform activity and seizures could help identify patients who might particularly benefit from EEG monitoring. ⋯ Approximately 7-8 neurocritical care patients must undergo intermittent EEG monitoring in order to diagnose one with PEDs or seizures. The predictors we identified could potentially help guide use of resources. Repeated intermittent studies, or cEEG, should be considered in patients with multiple risk factors, or when interictal discharges are identified on an initial EEG. It remains unclear whether aggressive prevention and treatment of electrographic seizures improves neurologic outcomes.
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To examine how the introduction of amplitude-integrated electroencephalography (aEEG) to our neonatal intensive care unit (NICU) influenced clinical practice. ⋯ Introduction of aEEG monitors to our NICU has led to less reliance on conventional EEG as a tool for the serial evaluation of brain function. Since the number of neonates diagnosed with seizures did not increase, aEEG monitoring did not appear to uncover a significant subgroup of patients with subclinical seizures that would previously have gone undetected. Conventional EEG and aEEG are complementary tools for the assessment of newborn cerebral function.
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Recognition of autoimmune encephalopathies and epilepsies in children and teenagers with acute or subacute onset of central nervous system dysfunction, through detection of the pertinent antibody on serum or cerebral spinal fluid, or through a response to immunotherapy may lead to an early diagnosis, and thus expedited implementation of immunotherapy and improved neurological outcome. The epidemiology of pediatric autoimmune encephalopathy and epilepsy is not well established, but advances in disease-specific biomarker discovery have lead to identification of disorders with either a cytotoxic T cell mediated pathogenesis or (more recently) possible autoantibody mediated disorders. This review summarizes the clinical presentations and recommended evaluations and treatment of pediatric epileptic encephalopathy suspected to be of autoimmune etiology.