Magnetic Resonance Spectroscopy
Another research area involves the use of magnetic resonance spectroscopy (MRS) to study brain metabolism in children and adults with psychiatric disorders, environmental neurotoxicant exposures and inherited metabolic diseases.
Dr. Kim M. Cecil provides biochemical and MRS expertise to compliment our neuroradiology staff. These investigations expand our understanding of these disorders by probing the underlying neurochemistry. Pediatric and adult bipolar disorder studies with research collaborators at the University of Cincinnati Medical Center and Cincinnati Children's Hospital Medical Center reveal metabolic differences compared with healthy volunteers. These differences correspond to pathological studies found in similar populations.
Funding for these studies is provided by the Stanley Foundation. Behavioral disorders also appear to be associated with chronic lead intoxication. Dr. Cecil has received funding as part of a NIH Program Project in Environmental Health to study the effects of environmental neurotoxicants. This unique effort with general pediatrics explores the brain-behavior relationship disrupted by lead exposure.
MRS continues to be used in the IRC in collaboration with child neurology to study a variety of metabolic diseases with respect to diagnosis and management. We initiated novel research to investigate the metabolic aspects of brain lesions in tuberous sclerosis complex (TSC). The MRS profiles of lesions in TSC provides a useful pattern for characterizing benign lesions from other more aggressive neoplasms. These profiles are useful for TSC and other patient populations without TSC. Attention deficits have also been found in children and adults with tuberous sclerosis having normal intelligence. Further research has been initiated to better understand the role of gene expression in TSC with respect to brain function and metabolism.
In 2000, we reported finding evidence of a novel creatine deficiency disorder using proton MR spectroscopy. Collaborative work with a genetic laboratory in Amsterdam has identified the specific mutations associated with the creatine transporter (2001). This work has identified eleven affected families as of August 2002 with this genetic disorder.
Collaborations with researchers at UCMC and Vanderbilt University are underway to develop a mouse knockout of this creatine transporter defect to model the disease and provide treatment paradigms. Impairment of creatine transport may be linked to other neuromuscular diseases.
Recent Publications of Dr. Cecil: - Sinson G, Bagley LJ, Cecil KM, Torchia M, Mcgowan JC, Lenkinski RE, Mcintosh TK, Grossman RI. Magnetization transfer imaging and proton MR spectroscopy in the evaluation of axonal injury: correlation with clinical outcome after traumatic brain injury. AJNR Am J Neuroradiol, 22: 143-151, 2001.
- Cecil KM, Jones BV, Williams S, Hedlund GL. CT, MRI and MRS of Epstein-Barr virus infection: case report. Neuroradiology, 42: 619-622, 2000.
- Bagley LJ, Cecil KM. MR and PET assist in workup of patients with epilepsy. Diagn Imaging (San Franc), 22: 55-59, 2000.
- Mcgowan JC, Yang JH, Plotkin RC, Grossman RI, Umile EM, Cecil KM, Bagley LJ. Magnetization transfer imaging in the detection of injury associated with mild head trauma. AJNR Am J Neuroradiol, 21: 875-880, 2000.
- Strakowski SM, Delbello MP, Adler C, Cecil KM, Sax KW. Neuroimaging in bipolar disorder. Bipolar Disord, 2: 148-164, 2000.
- Cecil KM, Jones BV. Magnetic resonance spectroscopy of the pediatric brain. Top Magn Reson Imaging, 12: 435-452, 2001.
- Cecil KM, Schnall MD, Siegelman ES, Lenkinski RE. The evaluation of human breast lesions with magnetic resonance imaging and proton magnetic resonance spectroscopy. Breast Cancer Res Treat, 68: 45-54, 2001.
- Trope I, Lopez-Villegas D, Cecil KM, Lenkinski RE. Exposure to lead appears to selectively alter metabolism of cortical gray matter. Pediatrics, 107: 1437-1442, 2001.
- Salomons GS, Van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine- deficiency syndrome. Am J Hum Genet, 68: 1497-1500, 2001.
- Cecil KM, Salomons GS, Ball WS Jr, Wong B, Chuck G, Verhoeven NM, Jakobs C, Degrauw TJ. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol, 49: 401-404, 2001.
