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Primary dystonia: Is abnormal functional brain architecture linked to genotype?
Author(s) -
Tros̆t Maja,
Carbon Maren,
Edwards Christine,
Ma Yilong,
Raymond Deborah,
Mentis Marc J.,
Moeller James R.,
Bressman Susan B.,
Eidelberg David
Publication year - 2002
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10418
Subject(s) - dystonia , hypermetabolism , basal ganglia , abnormality , neuroscience , genotype , cerebellum , biology , medicine , genetics , central nervous system , gene , psychiatry
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.