| Author/Editor | Trošt, Maja; Carbon, Maren; Edwards, Christine; Ma, Yilong; Raymond, Deborah; Mentis, Marc J; Moeller, James R; Bressman, Susan B; Eidelberg, David | |
| Title | Primary dystonia: is abnormal functional brain architecture linked to genotype? | |
| Type | članek | |
| Source | Ann Neurol | |
| Vol. and No. | Letnik 52, št. 6 | |
| Publication year | 2002 | |
| Volume | str. 853-6 | |
| Language | eng | |
| Abstract | The DYT1 dystonia mutation is associated with an abnormal metabolic brain network characterized by hypermetabolism of the basal ganglia, supplementary motor area, and the cerebellum. In this study, we quantified the activity of this network in carriers of other dystonia mutations to determine whether this functional abnormality is linked to genotype. The findings suggest that the DYT1 metabolic topography is not genotype specific and may be present in carriers of other dystonia mutations. | |
| Descriptors | BRAIN DYSTONIA MOLECULAR CHAPERONES ANALYSIS OF VARIANCE CARRIER PROTEINS AGE FACTORS SEX FACTORS TOMOGRAPHY, EMISSION-COMPUTED PROSPECTIVE STUDIES |