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RT Journal Article
SR Electronic
T1 Diffusion Tensor Imaging Detects Areas of Abnormal White Matter Microstructure in Patients with Partial Ornithine Transcarbamylase Deficiency
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1719
OP 1723
DO 10.3174/ajnr.A2122
VO 31
IS 9
A1 Gropman, A.L.
A1 Gertz, B.
A1 Shattuck, K.
A1 Kahn, I.L.
A1 Seltzer, R.
A1 Krivitsky, L.
A1 Van Meter, J.
YR 2010
UL http://www.ajnr.org/content/31/9/1719.abstract
AB BACKGROUND AND PURPOSE: OTCD, an X-linked disorder, is the most common of the UCDs. Neonatal onset is associated with uniformly poor outcome. Males with late-onset OTCD show deficits in executive function, motor planning, and working memory. A broad phenotype is observed in heterozygous females. A specific neurobehavioral phenotype with white matter dysfunction and impaired attention and working memory has been described. The extent to which the deficits involve specific pathways in the brain is unknown. We hypothesized that DTI would disclose white matter microstructure in OTCD correlating with cognitive deficits. MATERIALS AND METHODS: Nineteen adults with partial OTCD and 18 adult control subjects ages 19–59 years participated. MR imaging was performed by using a 3T whole-body scanner. Anisotropy was calculated from the eigenvalues of the diffusion tensor by using the FA metric and was compared between the study and control groups. RESULTS: FA of the frontal white matter was significantly decreased in subjects, indicating changes in white matter microstructure. There was an inverse relationship between FA and disease severity, but not with age. CONCLUSIONS: Findings of MR imaging in OTCD are often normal in patients with late-onset disease, heterozygotes, or in those not in hyperammonemic crisis. DTI was more sensitive than FSE T2-weighted imaging for detecting abnormalities in normal-appearing white matter. The extent of abnormality correlated with cognitive deficits. The location of the deficits in the frontal white matter is important because this area connects fibers that are vital to executive function, attention, and working memory. CTMTComprehensive Trail Making TestDTdiffusion tensorDTIdiffusion tensor imagingEPIecho-planar imagingFAfractional anisotropy indexFLAIRfluid-attenuated inversion recoveryFSEfast spin-echoFSIQfull-scale IQHAhyperammonemiaIncong-Congincongruent-congruentIQintelligence quotientNAnot applicableOTCDornithine transcarbamylase deficiencyPIQperformance IQROIregion of interestUCDurea cycle disorderVIQverbal IQWMwhite matter