Continuum, Multiple Sclerosis, October 2007, Volume 13, Issue 5

Making the diagnosis of multiple sclerosis (MS) remains a challenging problem for clinicians. The foundation of diagnosis rests on demonstrating neurologic lesions, predominantly in the white matter, that are disseminated over space and time. Diagnostic criteria guide the clinician through applying clinical, radiologic, and laboratory evidence to secure the diagnosis. Complicating the process, however, is the existence of other conditions that may resemble MS and mislead the clinician to the wrong diagnosis. A familiarity with the differential diagnoses of symptoms commonly associated with MS permits the clinician to make the most accurate diagnosis.(C) 2007 American Academy of Neurology

Multiple sclerosis (MS) is a complex genetic disease. In addition to a modest heritability of risk, multifaceted gene-environment interactions play a role in causing disease. Although the exact mechanisms involved in MS pathogenesis remain unclear, both genetic and environmental factors have been implicated in susceptibility. It seems likely that both heritable and environmental factors also contribute to determine the clinical course of the disease. The challenge for MS research is to identify the primary genetic and environmental etiologic factors and to find ways to minimize their impact. Given the complexities involved, unraveling the relationships between these factors is extremely difficult and to date has had limited success.A role for heritability was suggested in the early descriptions of MS, even before the advent of modern genetics. Epidemiologic studies have provided us with a number of critical insights, including our awareness that the condition may be familial (1896), our appreciation of differences in gender-related and ethnic risks (1921), our understanding of the recurrence risk in families, and our description of the major histocompatibility complex class I and II associations. The evidence for the role of environmental factors in MS pathogenesis includes a higher prevalence of disease at higher latitudes, the apparent presence of clusters in some areas, and the absence of complete penetrance, even in monozygotic twins. The precise nature of the interplay between genetic and environmental factors is unknown.(C) 2007 American Academy of Neurology

MRI has revolutionized the diagnosis of multiple sclerosis (MS). In addition, use of MRI has provided a means to monitor disease and the response to therapy and has been used extensively as an adjunct means to evaluate new therapies. Despite its high sensitivity to detect MS lesions, its specificity for the underlying pathology is low. Furthermore, correlation of MS disability with the extent of abnormalities using several different methods of imaging has been modest at best. This chapter discusses the main imaging techniques used for MS diagnosis, MS management and treatment monitoring, and in clinical trials.(C) 2007 American Academy of Neurology

Symptoms commonly caused by multiple sclerosis include weakness; spasticity; sensory disturbances; tremor; bladder, bowel, and sexual dysfunction; fatigue; affective symptoms; and cognitive impairment. For each of these symptoms, there are pharmacologic and nonpharmacologic treatments that may help to ameliorate symptoms. Such treatments can improve day-to-day function and improve quality of life, making them important adjuncts to disease-modifying therapies.(C) 2007 American Academy of Neurology