Genes and Acute Neurologic Disease and Injury: A Primer for the Neurologic Intensive Care Nurse Sheila A. Alexander, RN, PhD * , Michael Beach, MSN, ACNP-BC Department of Acute and Tertiary Care, School of Nursing, University of Pittsburgh, 336 Victoria Building, 3500 Victoria Street, Pittsburgh, PA 15261, USA The completion of sequencing of the human genome and the explosion of clinical research and application of genetic data to the clinical arena have not bypassed the neuroscience community. Although treatments for many neurologic diseases and injuries are supportive in nature, results of research driven by findings from the human genome project are promising. There is little research exploring associations between genes and neurologic disease or injury for patients in the intensive care setting. There is some preclinical work exploring pathways involved in neurologic disease and injury and acute response of the central nervous system to disease and injury. As more of this work is tested in humans, knowledge of pathways influencing response will help us to improve outcomes for these patients. The path- ways involved in neurologic response to disease and injury are influenced by an individual’s genetic makeup. This article serves to educate critical care nurses of the current state of the science of genetic influences on acute neurologic disease and injury commonly seen by nurses in the neurologic intensive care unit. Genetic influences on neurologic disease development There are many neurologic diseases with a known genetic cause, such as Huntington chorea and muscular dystrophy, and even more with a known pattern of inheritance for which no causative gene has yet been identified. Additionally, recent research is identifying genes that influence pathways of many common neurologic diseases. Some of these neurologic diseases with a potential genetic influence are seen in ICUs. There is also much research being done to determine pathways involved in survival in more common neurologic illness and injury. Research exploring the dev- elopment of multiple sclerosis (MS), stroke, and traumatic brain injury (TBI) has been included in this review. Multiple sclerosis MS is an inflammatory disease affecting the central nervous system and is hallmarked by de- myelination and axonal loss from abnormal im- mune response. The disease clusters in families, suggesting a genetic contribution to its develop- ment. Although no single gene responsible for MS has been identified, research exploring genetic influences on development of MS and response to treatment is changing the face of health care for the patient who has MS. Some researchers have explored the association between single genes and MS without success. For instance, Lundmark and colleagues [1] explored the role of the promoter polymorphisms in the myeloperoxidase (MPO) gene in MS. MPO is an enzyme released by neutro- phils during the inflammatory response that causes tissue damage and is therefore believed to be a good candidate gene for predicting MS risk. Although these researchers had a large sample size (871 pa- tients who had MS and 532 healthy controls), they found no significant association with risk for MS. Heggarty and associates [2] have investigated the role of Cytotoxic T-lymphocyte-associated protein 4 (CTLA4) polymorphisms in a population * Corresponding author. E-mail address: salexand@pitt.edu (S.A. Alexander). 0899-5885/08/$ - see front matter Ó 2008 Elsevier Inc. All rights reserved. doi:10.1016/j.ccell.2008.01.001 ccnursing.theclinics.com Crit Care Nurs Clin N Am 20 (2008) 203–212