Advances in technology and basic biology have provided opportunities to develop neuroimaging and genetic biomarkers to study CNS (central nervous system) disorders. Functional imaging of brain metabolic activity, biochemistry, and circuitry reveals normal and abnormal physiological conditions and the molecular basis for CNS disorders. The application of MRS (magnetic resonance spectroscopy) and MRI (magnetic resonance imaging), and PET (positron emission tomographic) and SPECT (single photon emission computed tomographic) radiotracers to image CNS receptors and other signaling molecules has provided new opportunities to assess the onset and progression of CNS disorders and to monitor the effectiveness of treatments. Cognitive biomarkers (eg, attention, working memory, and eye movement) have been applied to prospectively assess biological susceptibility in populations at risk for developing neuropsychiatric disorders. Cognitive markers may also be useful in assessing new treatments and long-term functional outcome in neuropsychiatric and neurodegenerative disorders.
Advances in genomic technologies (completion of the human genome and a catalog of human sequence variations) will provide important information about the identity of genes that confer risk to neuropsychiatric disorders and genes involved in their pathogenesis. The development of genetic markers will aid in understanding the developmental time and the molecular and anatomical substrates of neuropsychiatric disorders. The application of genetic markers in clinical studies will ultimately enhance the power of neuroimaging and cognitive markers as tools to understand disease pathogenesis and will aid in the development and assessment of new preventive strategies and therapeutic interventions for CNS disorders. Examples of the application of neuroimaging, cognitive, and genetic markers in clinical studies of neuropsychiatric disorders were presented.
Brady L. Neuroimaging and Genetic Markers in CNS Disorders. Arch Neurol. 2000;57(8):1234. doi: