Primary dystonia: is abnormal functional brain architecture linked to genotype?
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.
Trost
Maja
M
Center for Neurosciences, North Shore-Long Island Jewish Research Institute, 350 Community Drive, Manhasset, NY 11030, USA.
Carbon
Maren
M
Edwards
Christine
C
Ma
Yilong
Y
Raymond
Deborah
D
Mentis
Marc J
MJ
Moeller
James R
JR
Bressman
Susan B
SB
Eidelberg
David
D
D000328:Adult; D000368:Aged; D000704:Analysis of Variance; D001921:Brain / Q000378:metabolism*; D002352:Carrier Proteins / Q000235:genetics; D020821:Dystonic Disorders / Q000235:genetics* / Q000378:metabolism*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones; D011446:Prospective Studies; D014055:Tomography, Emission-Computed / Q000379:methods
D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human